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Publications not listed here can be found by finding the author's faculty profile via the list below, then clicking "Search my publications in Pub Med" under the profile's Publications section.

 

Publications

(Updated:  6 July 2011)

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In Press, or Submitted: 

Anderson CD, Biffi A, Rahman R, Ross OA, Jagiella JM, Kissela B, Cole JW, Cortellini L, Rost NS, Cheng YC, Greenberg SM, de Bakker PI, Brown RD Jr, Brott TG, Mitchell BD, Broderick JP, Worrall BB, Furie KL, Kittner SJ, Woo D, Slowik A, Meschia JF, Saxena R, Rosand J; on behalf of the International Stroke Genetics Consortium.  Common mitochondrial sequence variants in ischemic stroke.  Ann Neurol (in press).  PMCID: PMC3003764 [Available on 2012/3/1]

Carsten A. Böger, Ming-Huei Chen, Adrienne Tin, Matthias Olden, Anna Kottgen, ..., Jeffrey R. O'Connell,..., Alan Shuldiner, Braxton Mitchell, ..., Michael Stumvoll, ..., Inga Prokopenko, Afshin Parsa MD MPH, ..., W. H. Linda Kao.  Genetic association studies identify CUBN as a gene locus for albuminuria in diabetic and non-diabetic individuals of African and European descent.  J Amer Soc Nephrol (in press)

Hu Y, Snitker S, Ryan KA, Yang R, Tong G, Mitchell BD, Shuldiner AR, Zhu D, Gong D-W.  Association of ALT and hematocrit with components of metabolic syndrome.  (submitted)

O’Donnell, CJ, Kavousi M, Smith AV, Kardia SLR, Province MA, Hwang S-J, Sun YV, Feitosa MF,  Aspelund T, Dehghan A, Hoffmann U, Bielak LF, Zhang Q, Eiriksdottir G, van Duijn CM, Fox CS, de Andrade M, Kraja AT, Sigurdsson S, Elias-Smale SE, Murabito J, Launer L, van der Lugt A, Kathiresan S, Krestin GP, Herrington DM, Howard TD, Liu Y, Post W, Mitchell BD, O’Connell JR, Shen H, Shuldiner AR, Altshuler D, Elosua R, Salomaa V, Schwartz SM, Siscovick DM, Voight BF, Bis JC, Glazer NL, Psaty BM, Boerwinkle E, Heiss G, Blankenberg S, Zeller T, Wild P, Schnabel RB, Schillert A, Ziegler A, Münzel TF, White C, Rotter JI, Nalls M, Oudkerk M, Johnson AD, Newman AB, Uitterlinden AG, Massaro JM, Cunningham J, Harris TB, Hofman A, Peyser PA, Borecki IB, Cupples LA, Gudnason V, Witteman JC.  Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.  (submitted)

Rampersaud E, Hanis CL, Florez JC, Meigs JB, Hays MG, Dupuis J, Baier LJ, O’Connell JR, Knowler WC, Cox NJ, Shuldiner AR, Cupples LA, Mitchell BD, Hanson RL. Meta-analysis of four genome-wide association scans of type 2 diabetes in diverse ethnic groups: Results from the Type 2 Diabetes 100K Consortium, submitted.  

2011

Böger CA, Chen MH, Tin A, Olden M, Köttgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tönjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarød K, Skorpen F, Syvänen AC, Illig T, Baumert J, Koenig W, Krämer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Völzke H, Stumvoll M, Mägi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia SL, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlöv J, Hallan S, Navis G; CKDGen Consortium, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson NJ, Wichmann HE, Wareham NJ, Loos RJ, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WH.  CUBN is a gene locus for albuminuria.  J Am Soc Nephrol 22(3):555-70, 2011.   PMID 21355061.

Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, Pankratz N, Pankow JS, Shah S, Taylor K, Barnard J, Peters BJ, M Maloney C, Lobmeyer MT, Stanton A, Zafarmand MH, Romaine SP, Mehta A, van Iperen EP, Gong Y, Price TS, Smith EN, Kim CE, Li YR, Asselbergs FW, Atwood LD, Bailey KM, Bhatt D, Bauer F, Behr ER, Bhangale T, Boer JM, Boehm BO, Bradfield JP, Brown M, Braund PS, Burton PR, Carty C, Chandrupatla HR, Chen W, Connell J, Dalgeorgou C, Boer A, Drenos F, Elbers CC, Fang JC, Fox CS, Frackelton EC, Fuchs B, Furlong CE, Gibson Q, Gieger C, Goel A, Grobbee DE, Hastie C, Howard PJ, Huang GH, Johnson WC, Li Q, Kleber ME, Klein BE, Klein R, Kooperberg C, Ky B, Lacroix A, Lanken P, Lathrop M, Li M, Marshall V, Melander O, Mentch FD, J Meyer N, Monda KL, Montpetit A, Murugesan G, Nakayama K, Nondahl D, Onipinla A, Rafelt S, Newhouse SJ, Otieno FG, Patel SR, Putt ME, Rodriguez S, Safa RN, Sawyer DB, Schreiner PJ, Simpson C, Sivapalaratnam S, Srinivasan SR, Suver C, Swergold G, Sweitzer NK, Thomas KA, Thorand B, Timpson NJ, Tischfield S, Tobin M, Tomaszweski M, Verschuren WM, Wallace C, Winkelmann B, Zhang H, Zheng D, Zhang L, Zmuda JM, Clarke R, Balmforth AJ, Danesh J, Day IN, Schork NJ, de Bakker PI, Delles C, Duggan D, Hingorani AD, Hirschhorn JN, Hofker MH, Humphries SE, Kivimaki M, Lawlor DA, Kottke-Marchant K, Mega JL, Mitchell BD, Morrow DA, Palmen J, Redline S, Shields DC, Shuldiner AR, Sleiman PM, Smith GD, Farrall M, Jamshidi Y, Christiani DC, Casas JP, Hall AS, Doevendans PA, D Christie J, Berenson GS, Murray SS, Illig T, Dorn GW 2nd, Cappola TP, Boerwinkle E, Sever P, Rader DJ, Reilly MP, Caulfield M, Talmud PJ, Topol E, Engert JC, Wang K, Dominiczak A, Hamsten A, Curtis SP, Silverstein RL, Lange LA, Sabatine MS, Trip M, Saleheen D, Peden JF, Cruickshanks KJ, März W, O'Connell JR, Klungel OH, Wijmenga C, Maitland-van der Zee AH, Schadt EE, Johnson JA, Jarvik GP, Papanicolaou GJ; Hugh Watkins on behalf of PROCARDIS, Grant SF, Munroe PB, North KE, Samani NJ, Koenig W, Gaunt TR, Anand SS, van der Schouw YT; Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group, Soranzo N, Fitzgerald GA, Reiner A, Hegele RA, Hakonarson H, Keating BJ. Meta-analysis of gene-centric association studies identifies new genes for adult height.  Am J Hum Genet 88:6-18, 2011.  PMID: 21194676.

Roughmann M, Johnson KK, Stine OC, Lydecker A, Ryan K, Mitchell DB, Shuldiner AR.  Persistent Staphylococcus aureus colonization is not a strongly heritable trait in Amish families.  PLoS One 6(2):e17368, 2011. PMID 21386985.

Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Harris TB, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, Hoffmann U, Massaro JM, O'Donnell CJ, Sahani DN, Sanyal A, Voight BF, Carr JJ, Feitosa MF, Gudnason V, Fox CS, Smith AV, Kao WHL, Hirschhorn JN, Borecki IB, for the GOLD Consortium. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have diverse associations with serum lipids. PLoS Genetics 7(3):e1001324, 2011 PMID 2143719.

 

2010

Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS. Genetic loci influencing kidney function and chronic kidney disease (2010) Nat. Genet. 42, 373-5. PMID: 20383145

Cheng YC, Kao WH, Mitchell BD, Sharrett AR, Ryan KA, Vogel RA, Shuldiner AR, Pollin TI.  Genetic effects on postprandial variations of inflammatory markers in healthy individuals.  Obesity (Silver Spring). 18(7):1417-22, 2010.   PMID: 19910936 

Cornelis MC, Agrawal A, Cole JW, Hansel NN, Barnes KC, Beaty TH, Bennett SN, Bierut LJ, Boerwinkle E, Doheny KF, Feenstra B, Feingold E, Fornage M, Haiman CA, Harris EL, Hayes G, Heit JA, Hu FB, Kang JH, Laurie CC, Ling H, Manolio TA, Marazita ML, Mathias RA, Mire DB, Paschall J, Pasquale LR, Pugh EW, Rice JP, Udren J, van Dam RM, Wang X, Wiggs JL, Williams K, Yu K for the GENEVA Consortium.  The Gene, Environment Association Studies Consortium (GENEVA): Maximizing the Knowledge Obtained from GWAS by Collaboration Across Studies of Multiple Conditions. Genet Epidemiol. 2010 May ; 34(4): 364–372. PMCID: PMC2860056.

Dotson CD, Shaw HL, Mitchell BD, Munger SD, Steinle NI.  Variation in the gene TAS2R38 is associated with the eating behavior disinhibition in Old Order Amish women.  Appetite 54(1):93-99, 2010.  PMID: 19782709  PMCID: PMC2938875.

Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N,  ... , O’Connell J, ...,  Mitchell BD, ..., Jarvelin M, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M†, McCarthy MI†, Florez JC† and Barroso I† for the MAGIC investigators.  New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 42(2): 105-16, 2010.  PMID: 20081858  PMCID: PMC3018764.

Hairston KG, Ducharme JD, Treuth MS, Hsueh W-C, Ryan KA, Shi X, Mitchell BD, Shuldiner AR, Snitker S.  Comparison of Physical Activity and Body Composition between Old Order Amish Children and non-Amish Children. 2010_Snitker_THELANCET-S-10-02286-3. 

Hoppman N, McLenithan JC, McBride DJ, Shen H, Bruder J, Bauer RL, O’Connell JR, Streeten EA, Shuldiner AR, Kammerer CM, Mitchell BD.  Common variants in fibroblast growth factor binding protein 1 (FGFBP1) are associated with bone mineral density and influence gene expression in vitro Bone 47(2):272-280, 2010.  PMCID: PMC2902654 [Available on 2011/8/1] PMID: 20450993

Jablonski K.A., McAteer J.B., de Bakker P.I., Franks P.W., Pollin T.I., Hanson R.L., Saxena R., Fowler S., Shuldiner A.R., Knowler W.C., Altshuler D., Florez J.C.; for the Diabetes Prevention Program Research Group. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the Diabetes Prevention Program (2010) Diabetes 59, 2672-2681. PMID: 20682687

Kosova G, Pickrell JK, Kelley JL, McArdle PF, Shuldiner AR, Abney M, Ober C. The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate (2010) PLoS Genet. 6, e1000974. PMID: 20532200

Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A, Teumer A, Paré G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T, Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N, Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF, Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS.   New loci associated with kidney function and chronic kidney disease: The CKDGen Consortium.  Nat Genet 42(5):376-84, 2010.  PMID: 20383146.

Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, Wheeler E, Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Mägi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson A, Carola Zillikens M, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M, Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF, Wiklund F, Xu J, Hua Zhao J, Nyholt DR, Pellikka N, Perola M, Perry JR, Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J, König IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B, Morris AP, Müller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J, Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N, Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W, Illig T, Jula A, Kajantie E, Kilpeläinen TO, Koiranen M, Kolcic I, Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A, Maschio A, Meitinger T, Mulas A, Paré G, Parker AN, Peden JF, Petersmann A, Pichler I, Pietiläinen KH, Pouta A, Ridderstråle M, Rotter JI, Sambrook JG, Sanders AR, Oliver Schmidt C, Sinisalo J, Smit JH, Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M, Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS, Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M, Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren C, Kähönen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer LJ, Lehtimäki T, Melander O, Mosley Jr TH, Musk AW, Nieminen MS, O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR, Siscovick DS, Stumvoll M, Tönjes A, Tuomilehto J, van Ommen GJ, Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P, Gieger C, Grönberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman W, Mark Lathrop G, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI, Caulfield MJ, Adrienne Cupples L, Erdmann J, Fox CS, Gudnason V, Gyllensten U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ, Spector TD, Völzke H, Watkins H, Wilson JF, Groop LC, Haritunians T, Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ, Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM, Hirschhorn JN. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010 Sep 29. [Epub ahead of print] PMID: 20881960

Ma L, Hanson RL, Traurig MT, Muller YL, Kaur BP, Perez JM, Meyre D, Fu M, Körner A, Franks PW, Kiess W, Kobes S, Knowler WC, Kovacs P, Froguel P, Shuldiner AR, Bogardus C, Baier LJ. Evaluation of A2BP1 as an Obesity Gene. (2010) Diabetes [Epub ahead of print] PMID: 20724578

Muller YL, Hanson RL, Bian L, Mack J, Shi X, Pakyz R, Shuldiner AR, Knowler WC, Bogardus C, Baier LJ. Functional variants in MBL2 are associated with type 2 diabetes and pre-diabetes traits in Pima Indians and the old order Amish (2010) Diabetes 59, 2080-5. PMID: 20522590

Musunuru K, Post W, Herzog B, Shen H, O'Connell JR, McArdle PF, Ryan KA, Gibson Q, Cheng Y-C, Clearfield E, Faraday N, Bielak LF, Peyser PA, Shuldiner AR, Mitchell BD. Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for increased vascular disease. Circ Cardiovasc Genet 3:445-453, 2010.  PMID20858905.

Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH; GIANT consortium; MAGIC investigators, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ, Watanabe RM. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet 42(2): 142-148, 2010.  PMID: 20081857, PMCID: PMC2922003.

Shen H, Bielak LF, Ferguson JF, Streeten EA, Yerges-Armstrong L, Liu J, Post W, O’Connell JR, Hixson JE, Kardia SLR, Sun YV, Jhun M, Wang X, Mehta N, Li M, Hakonarson H, Keating BJ, Rader DJ, Shuldiner AR, Peyser PA, Reilly MP, Mitchell BD. Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcium.  Arterioscl Thromb Vasc Biol 2010 Dec;30(12):2648-2654. PMID20847308.  

Shen H, Damcott CM, Rampersaud E, Pollin TI, Horenstein R, McArdle PF, Peyser PA, Bielak LF, Post W, Chang Y-P C, Ryan KA, Miller M, Rumberger JA,Sheedy II, PF, Shelton J, O’Connell JR, Shuldiner AR, Mitchell BD.  Familial Apolipoprotein B-100 and Increased Low-Density Lipoprotein Cholesterol and Coronary Artery Calcification in the Old Order Amish.   Arch Intern Med 170(20):1850-1855, 2010.  PMID 21059979.   (Supplemental Data)
 

2009

Bielak LF, Horenstein RB, Ryan KA, Sheedy II, PF, Post W, Mitchell BD, Shuldiner AR, Peyser PA.  Circulating CD34+ cell count is associated with extent of subclinical atherosclerosis in asymptomatic Amish men, independent of 10-year Framingham risk.  Clinical Medicine: Cardiology 3:53-60, 2009.  PMCID: PMC2856343

Cheng Y-C, Kao W-H L, Mitchell BD, O’Connell JR, Shen H, McArdle PF, Gibson Q, Ryan KA, Shuldiner AR, Pollin TI.  Genome-wide association scan identifies variants near matrix metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.  Circ Cardiovasc Genet 2(4):329-37,2009. PMCID: PMC2801898.

Cheng YC, Kao WH, Mitchell BD, Sharrett AR, Ryan KA, Vogel RA, Shuldiner AR, Pollin TI. Genetic Effects on Postprandial Variations of Inflammatory Markers in Healthy Individuals. Obesity (Silver Spring). 2010 Jul;18(7):1417-22. Epub 2009 Nov 12. PMID: 19910936.

Chu AY, Parekh RS, Astor BC, Coresh J, Berthier-Schaad Y, Smith MW, Shuldiner AR, Kao WH. Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III). Genetic Study. BMC Med Genet. 2009 Oct 23;10:108. PMCID: PMC2770999.

Daley E, Streeten EA, Sorkin JD, Kuznetsova N, Shapses SA, Carleton SM, Shuldiner AR, Marini JC, Phillips CL, Goldstein SA, Leikin S, McBride DJ. Variable Bone Fragility Associated with an Amish COL1A2 Variant and a Knock-in Mouse Model.  J Bone Miner Res. 2009 Jul 13.  PMID: 19594296. 

Dotson CD, Shaw HL, Mitchell BD, Munger SD, Steinle NI. Variation in the gene TAS2R38 is associated with the eating behavior disinhibition in Old Order Amish women. Appetite. 2009 Sep 25. PMID: 19782709.

Giampietro PF, McCarty C, Mukesh B, McKiernan F, Wilson D, Shuldiner A, Liu J, Levasseur J, Ivacic L, Kitchner T, Ghebranious N. The role of cigarette smoking and statins in the development of postmenopausal osteoporosis: a pilot study utilizing the Marshfield Clinic Personalized Medicine Cohort. Osteoporos Int. 2009 Jun 9. PMID: 19506792.

Heard-Costa NL, Zillikens MC, Monda KL, Johansson A, Harris TB, Fu M, Haritunians T, Feitosa MF, Aspelund T, Eiriksdottir G, Garcia M, Launer LJ, Smith AV, Mitchell BD, McArdle PF, Shuldiner AR, Bielinski SJ, Boerwinkle E, Brancati F, Demerath EW, Pankow JS, Arnold AM, Chen YD, Glazer NL, McKnight B, Psaty BM, Rotter JI, Amin N, Campbell H, Gyllensten U, Pattaro C, Pramstaller PP, Rudan I, Struchalin M, Vitart V, Gao X, Kraja A, Province MA, Zhang Q, Atwood LD, Dupuis J, Hirschhorn JN, Jaquish CE, O'Donnell CJ, Vasan RS, White CC, Aulchenko YS, Estrada K, Hofman A, Rivadeneira F, Uitterlinden AG, Witteman JC, Oostra BA, Kaplan RC, Gudnason V, O'Connell JR, Borecki IB, van Duijn CM, Cupples LA, Fox CS, North KE. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet. 2009 Jun;5(6):e1000539. Epub 2009 Jun 26. PMCID: PMC2695005.

Gurbel PA, Bliden KP, Antonino MJ, Stephens G, Gretler DD, Jurek MM, Pakyz RE, Shuldiner AR, Conley PB, Tantry US. The effect of elinogrel on high platelet reactivity during dual antiplatelet therapy and the relation to cyp 2c19*2 genotype: first experience in patients (2009) J Thromb Haemost. 8, 43-53. PMID: 19817997.

Hu Y, Tong G, Xu W, Pan J, Ryan K, Yang R, Shuldiner AR, Gong D-W, Zhu D, Anti-inflammatory effects of simvastatin on adipokines in type 2 diabetic patients with carotid atherosclerosis (2009) Diabetes Vascul. Dis. Res. 6, 262-268. PMID: 20368220.

McArdle PF, Whitcomb BW, Improper Adjustment for Baseline in Genetic Association Studies of Change in Phenotype.   Human Heredity 67(3):176-182,2009. PMID: 19077436.

Michos ED, Streeten EA, Ryan KA, Rampersaud E, Peyser PA, Bielak LF, Shuldiner AR, Mitchell BD, Post W.  Serum 25-hydroxyvitamin D levels are not associated with subclinical vascular disease or C-reactive protein in the Old Order Amish. Calcif Tissue Int 84(3):195–202,2009 . PMID: 19148561, PMCID PMC2908302. 

Naj AC, Kao WH, O'Connell JR, Mitchell BD, Silver KD. Sequence variation in IGF1R is associated with differences in insulin levels in nondiabetic old order Amish. Diab Metab Res Rev 25:773-779,2009. PMID: 19877134, PMCID PMC2837841.

Perry JR, Stolk L, Franceschini N, Lunetta KL, Zhai G, McArdle PF, Smith AV, Aspelund T, Bandinelli S, Boerwinkle E, Cherkas L, Eiriksdottir G, Estrada K, Ferrucci L, Folsom AR, Garcia M, Gudnason V, Hofman A, Karasik D, Kiel DP, Launer LJ, van Meurs J, Nalls MA, Rivadeneira F, Shuldiner AR, Singleton A, Soranzo N, Tanaka T, Visser JA, Weedon MN, Wilson SG, Zhuang V, Streeten EA, Harris TB, Murray A, Spector TD, Demerath EW, Uitterlinden AG, Murabito JM. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet. 2009 May 17. PMID: 19448620.

Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, Frayling TM, Groves CJ, Gwilliam R, Scott LJ, Voight BF, Hattersley AT, Hu C, Morris AD, Ng M, Palmer CN, Tello-Ruiz M, Vaxillaire M, Wang CR, Stein L, Chan J, Jia W, Froguel P, Elbein SC, Deloukas P, Bogardus C, Shuldiner AR, McCarthy MI; International Type 2 Diabetes 1q Consortium. Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes 58:1704-9,2009. PMCID: PMC2699860.

Shuldiner AR, O’Connell JR, Bliden KP, Gandhi A, Ryan K, Horenstein RB, Damcott CM, Pakyz R, Gibson Q, Pollin TI, Post W, Parsa A, Mitchell BD, Faraday N, Herzog W, Gurbel PA.  Association of cytochrome p450 2C19 genotype with the anti-platelet effect and clinical efficacy of clopidogrel therapy.  JAMA 302: 849-858, 2009.  PMID: 19706858. 

Sanna S, Busonero F, Maschio A, McArdle PF, Usala G, Dei M, Lai S, Mulas A, Piras MG, Perseu L, Masala M, Marongiu M, Crisponi L, Naitza S, Galanello R, Abecasis GR, Shuldiner AR, Schlessinger D, Cao A, Uda M. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet. 2009 Jul 15;18(14):2711-8. PMCID: PMC2701337 [Available on 2010/7/15].

Shen H, Herzog W, Drolet M, Pakyz R, Newcomer S, Sack P, Karon H, Ryan KA, Zhao Y, Shi X, Mitchell BD, Shuldiner AR. Aspirin Resistance in healthy drug-naive men versus women from the Heredity and Phenotype Intervention Heart Study. Am J Cardiol 104(4):606-12,2009. PMID: 19660620.

Shen H, Pollin TI, Damcott CM, McLenithan JC, Mitchell BD, Shuldiner AR. Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study. Hum Genet 126:567-574,2009. PMID: 19526250, PMCID PMC2918876.

Shuldiner AR, O'Connell JR, Bliden KP, Gandhi A, Ryan K, Horenstein RB, Damcott CM, Pakyz R, Tantry US, Gibson Q, Pollin TI, Post W, Parsa A, Mitchell BD, Faraday N, Herzog W, Gurbel PA. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA. 2009 Aug 26;302(8):849-57. PMID: 19706858.

Tarasov KV, Sanna S, Scuteri A, Strait JB, Orrù M, Parsa A, Lin P-I, Maschio A, Lai S, Piras MG Masala M, Tanaka T,  Post WS, O’Connell JR, Schlessinger D, Cao A, Nagaraja R, Mitchell BD,  Abecasis GR, Shuldiner AR, Uda M, Lakatta EG, Najjar SS.  COL4A1 is associated with arterial stiffness by genome wide association scan.  Circ Cardiovasc Genet 2(2):151-158, 2009PMCID: PMC2801872. 

Van Hout CV, Levin AM, Rampersaud E, Shen H, O'Connell JR, Mitchell BD, Shuldiner AR, Douglas JA. Extent and distribution of linkage disequilibrium in the Old Order Amish. Genet Epidemiol. 2009 Aug 20;34(2):146-150. PMID: 19697356, PMCID: PMC2811753.     

Wang Y, O'Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ, Shi X, Pan L, Rampersaud E, Shen H, Kim JD, Subramanya AR, Steinle NI, Parsa A, Ober CC, Welling PA, Chakravarti A, Weder AB, Cooper RS, Mitchell BD, Shuldiner AR, Chang Y-PC.      Whole-genome association study identifies STK39 as a novel hypertension susceptibility gene. Proc Natl Acad Science 106:226-31,2009. PMCID: PMC2629209.

 

2008

Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S. Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. Am J Human Genet 82:1270-1280, 2008. PMCID: PMC2427267.

Atzmon G., Pollin T.I., Crandall J., Tanner K., Schechter C.B., Scherer P.E., Rincon M., Siegel G., Katz M., Lipton R.B., Shuldiner A.R., Barzilai (2008) Adiponectin levels and genotype: A potential regulator of life-span in humans. (2008) J. Gerontol. A. Biol. Sci. Med. Sci., 63, 447-453. PMID: 18511746.

Bielak LF, Yu PF, Ryan KA, Rumberger JA, Sheedy, II PF, Turner ST, Shuldiner AR, Mitchell BD, Peyser PA.  Differences in prevalence and severity of coronary artery calcification between two European American populations with diverse lifestyles.   Atherosclerosis 196:888-895, 2008. PMCID: PMC2277512.

Chen WM, Erdos MR, Jackson AU, Saxena R, Sanna S, Silver KD, Timpson NJ, Hansen T, Orrù M, Piras MG, Bonnycastle LL, Willer CJ, Lyssenko V, Shen H, Wang J, Ebrahim S, Sestu N, Duren WL, Spada MC, Stringham HM, Scott LJ, Olla N, Swift AJ, Najjar S, Mitchell BD, Lawlor DA, Smith GD, Ben-Shlomo Y, Andersen G, Borch-Johnsen K, Jorgensen T, Buchanan TA, Shuldiner AR, Lakatta E, Bergman RN, Uda M, Tuomilehto J, Pedersen O, Cao A, Groop L, Mohlke KL, Laaskso M, Schlessinger D, Collins FS, Altshuler D, Abecasis GR, Boehnke M, Scuteri A, Watanabe R.   Variations in the G6PC2/ABCB11 genomic region associated with fasting glucose levels.  J Clin Invest 118, 2620-2628, 2008. PMCID: PMC2398737.  

Dotson CD, Zhang L, Xu H, Shin YK, Vigues S, Ott SH, Elson AE, Choi HJ, Shaw H, Egan JM, Mitchell BD, Li X, Steinle NI, Munger SD. Bitter taste receptors influence glucose homeostasis. PLosOne 3(12):e3974,2008. PMCID: PMC2597743.

Douglas JA, Roy-Gagnon MH, Zhou C, Mitchell BD, Shuldiner AR, Chan HP, Helvie MA. Mammographic breast density--evidence for genetic correlations with established breast cancer risk factors. Cancer Epidemiol Biomarkers Prev. 17:3509-16,2008. PMID: 19029399 PMCID: PMC2843541.

Guan W, Pluzhnikov A, Cox NJ, Boehnke M. for the International Type 2 Diabetes Linkage Analysis Consortium. Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium.   Hum Hered 66, 35-49, 2008. PMID: 18223311, PMCID: PMC2855874.

Kottgen A, Hsu CC, Coresh J, Shuldiner AR, Berthier-Schaad Y, Gambhir TR, Smith MW, Boerwinkle E, Kao WH.  The association of podocinR229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of U S adults. Am J Kidney Dis, 2008 November; 52(5): 868-875.  PMCID: PMC2597304.  

Köttgen A., Hwang S.J., Rampersaud E., Coresh J., North K.E., Pankow J.S., Meigs J.B., Florez J.C., Parsa A., Levy D., Boerwinkle E., Shuldiner A.R., Fox C.S. & Kao W.H.L. TCF7L2 variants associate with CKD progression and renal function in population-based studies. (2008) J. Am. Soc. Nephrol. 52, 868-875. PMCID: PMC2551569 

Lin P-I, Mitchell BD Approaches for Unraveling the Joint Genetic Determinants of Schizophrenia and Bipolar Disorder.    Schizophrenia Bulletin Advance Access published, May 22, 2008; Schizophrenia Bulletin doi:10.1093/schbul/sbn050. PMCID: PMC2617774.

McArdle PF, Parsa A, Chang Y -PC, Weir MR, O’Connell JR, Mitchell BD, Shuldiner AR.  Association of a Common Nonsynonymous Variant in GLUT9 with Serum Uric Acid Levels in Old Order Amish. Arthritis Rheum 58, 2874-2881, 2008. PMCID: PMC2779583.

McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YPC, Levy D, Steinle N.  Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.   BMC Med Genet. 2008 Jul 14;9(1):67  PMCID: PMC2478679 ---  (Supplemental Data).

Mitchell BD, McArdle PF, Shen H, Rampersaid E, Pollin TI, Bielak LF, Jaquish C, Douglas JA, Roy-Gagnon MH, Sack P, Naglieri R, Hines S, Horenstein RB, Chang Y-.PC, Post W, Ryan KA, Sorkin J, Damcott CM, O’Connell JR, Corretti M, Vogel R, Herzog W, Weir MR, Peyser PA, Shuldiner AR.  The genetic response to short-term interventions affecting cardiovascular function:  Rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study.   Am Heart J 823:828, 2008. PMCID: PMC2443415. 

Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR (2008). A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection. Science, 322, 1702-1705, 2008. PMCID: PMC2673993 . 

Pollin TI, McBride DJ, Agarwala R, Schaffer AA, Shuldiner AR, Mitchell BD, O’Connell JR.   Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish.  Hum Hered 65:91-104, 2008. PMID: 2857628.

Rampersaud E, Bielak LF, Parsa A, Shen H, Post W, Ryan KA, Rumberger JA, Sheedy PF II, Peyser PA, Shuldiner AR, Mitchell BD.  The Association of Coronary Artery Calcification and Carotid Artery Intima-Media Thickness with Distinct, Traditional Coronary Artery Disease Risk Factors in Asymptomatic Adults.  Am J Epidemiol, 168:1016-1023,  2008. PMCID: PMC2720772.

Rampersaud E, Mitchell BD, Pollin TI, Fu M, Shen H, O'Connell J, Ducharme JL, Hines S, Sack P, Naglieri R, Shuldiner AR, Snitker S.  Physical Activity and the Association of common FTO Gene Variants with Body Mass Index and Obesity. Arch Intern Med 168:1791-1797,2008  PMID: 18779467,  PMCID: PMC2720772.      (Supplemental Data) 

Roy-Gagnon MH, Weir MR, Sorkin JD, Ryan KA, Sack PA, Hines S., Bielak LF, Peyser PA, Post W, Mitchell BD, Shuldiner AR, Douglas JA.   Genetic influences on blood pressure response to the cold pressor test:  results from the Heredity and Phenotype Intervention Heart Study.  J Hypertens 26:729-736, 2008. PMID: 18327083.

Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen W.-M, Bonnycastle LL., Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM., Scott LJ, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny KF, Pugh EW, Shlomo YB, Ebrahim S, Lawlor DA, Bergman RN, Watanabe RM, Uda M, Tuomilehto J, Coresh J, Hirschhorn JN, Shuldiner AR, Schlessinger D, Collins FS, DaveySmith G, Boerwinkle E, Cao A, Boehnke M, Abecasis GR, Mohlke KL.  Common variants in the GDF5 - UQCC region are associated with variationin human height. Nat Genet 40, 199-203, 2008. PMID: 18193045.

Streeten EA, McBride DJ, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton H.  Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates. Bone 43, 584-590, 2008. PMID: 18555766, PMCID: PMC2591020.   

Streeten EA, Beck TJ, O’Connell JR, Rampersaud E, McBride DJ, Takala SL, Pollin TI, Usi-Rasi K, Mitchell BD, Shuldiner AR. Autosome-wide linkage analysis of hip structural phenotypes in the Old Order Amish. Bone 43, 607-612, 2008. PMCID: PMC2591020.

Stirnadel H, Lin X, Ling H, Song K, Barter P, Kesäniemi YA, Mahley R, McPherson R, Waeber G, Bersot T, Cohen J, Grundy S, Mitchell B, Mooser V, Waterworth D.  Genetic and phenotypic architecture of metabolic syndrome-associated components in dyslipidemic and normolipidemic subjects – The GEMS Study.  Atherosclerosis 197:868-876, 2008, PMID: 17888929. 

Willer CJ, Sanna S, Jackson AU, Scuteri A,  Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A,  Albai G, Swift AJ, Morken MA, Narisu N, Bennett  D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen W.-M, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S,  Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R,  Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR.  Newly identified loci that influence lipid concentrations and risk of coronary artery disease.  Nat Genet 40, 161-169, 2008. PMID: 18193043.

  

2007

Chu WS, Das SK, Wang H, Chan JC, Deloukas P, Froguel P, Baier LJ, Hanson RL, Jia W, McCarthy MI, Ng MCY., Shuldiner AR, Zeggini E, Elbein SC.  Activating transcription factor 6 (ATF6) sequence polymorphism in type 2 diabetes and prediabetic traits.  Diabetes 56, 856-862, 2007. 

de Souza Batista CM, Yang R-Z, Lee M-J, Glynn NM, Yu D-Z, Pray J, Ndubuizu K, Patil S, Schwartz A, Fried SK, Gong D-W, Shuldiner AR, Pollin TI, McLenithan JC.   Omentin plasma levels and gene Expression are decreased in obesity.   Diabetes 56, 1655-1661, 2007. 

Fu M, Sabra MM, Damcott C, Pollin TI, Ma L, Ott  S, Shelton JC, Shi X, Reinhart L, O’Connell  JR, Mitchell BD, Baier LJ, Shuldiner AR.   Evidence that rho guanine nucleotide exchange factor 11 (ARHGEF11) on 1q21 is a type 2 diabetes susceptibility gene in the Old Order Amish.   Diabetes 56:1363-1368, 2007. 

Hsueh WC, Silver KD, Pollin TI, Bell CJ, O’Connell JR, Mitchell BD, Shuldiner AR.   A genome-wide linkage scan of insulin level derived traits:  the Amish Family Diabetes Study.   Diabetes 56:2643-2648, 2007.

Ma L, Hanson RL, Que LN, Cali AM, Fu M, Mack JL, Infante AM, Kobes S, Bogardus C, Shuldiner AR, Baier LJ.   Variants in ARGHEF11, a candidate gene for the linkage to type 2 diabetes mellitus on chromosome 1q, are nominally associated with insulin resistance and type 2 diabetes in Pima Indians.  Diabetes 56, 1454-1459, 2007. 

McArdle PF, O’Connell JR, Pollin TI, Baumgarten M, Shuldiner AR, Peyser, PA, Mitchell BD. Accounting for genealogy in family-based genetic association studies.    Hum Hered 64:234-242, 2007. 

McArdle PF, Dytch H, O’Connell JR, Shuldiner AR, Mitchell BD, Abney M.   Homozygosity by descent mapping of blood pressure in the Old Order Amish:  evidence for sex specific genetic architecture.   BMC Genet.8:66, 2007. 

Njajou OT, Cawthon RM, Damcott CM, Wu S-H, Ott S, Garant MJ, Blackburn EH, Mitchell BD, Shuldiner AR, Hsueh W-C.  Telomere length is paternally inherited and is associated with parental lifespan. PNAS 104:12135-12139, 2007.

Owen KR, Groves CJ, Hanson RL, Knowler WC, Shuldiner AR, Elbein SC, Mitchell BD, Froguel P, Ng MC, Chan JC, Jia W, Deloukas P, Hitman GA, Walker M, Frayling TM, Hattersley AT, Zeggini E, McCarthy MI.  Common Variation in the LMNA Gene (Encoding Lamin A/C) and Type 2 Diabetes:  Association Analyses in 9,518 Subjects.   Diabetes 56(3):879-83,Mar 2007. 

Post W, Bielak LF, Ryan KA, Cheng YC, Shen H, Rumberger JA, Sheedy PF II, Shuldiner AR, Peyser PA, Mitchell BD. Determinants of coronary artery and aortic calcification in the Old Order Amish.  Circulation 115(6):717-24, 2007. 

Post W, Shen H, Damcott C, Arking DE, Kao WHL, Sack PA,  Ryan KA, Chakravarti A, Mitchell BD,  Shuldiner AR.  Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the Old Order Amish.  Hum Hered 64:214-219, 2007. 

Rampersaud E, Damcott CM, Fu M, Shen H, McArdle P, Shi X, Shuldiner AR, Yin J, Chang YP, Ott SH, Zhang L, Zhao Y, Mitchell BD, O’Connell J, Shuldiner AR.  Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish:  evidence for replication from diabetes-related quantitative traits and from independent populations. Diabetes 56:3053-3062, 2007; Supplemental Data: (28,307 KB pdf) or (46,136KB Word doc). 

Roberts CGP, Shen H, Mitchell BD, Damcott CM, Shuldiner AR, Rodriguez A.  Variants in scavenger receptor class B type I are associated with HDL cholesterol levels in younger women.   Hum Hered 54:107-113, 2007.

Silver KD, Shi X, Mitchell BD.  Betacellulin variants and type 2 diabetes in the Old Order Amish.  Experimental and Clinical Endocrinology & Diabetes  115:229-231, 2007. 

Shen H, Bielak LF, Streeten EA, Ryan KA, Rumberger JA, Sheedy PF II, Shuldiner AR, Peyser PA, Mitchell, BD.  Relationship between vascular calcification and bone mineral density in the Old-Order Amish.  Calcif. Tissue Int. 80, 244-250, 2007. 

Presentations at American Society of Human Genetics 2007 meeting.   ASHG_2007_Amish_Presentations.doc 

 

2006

Damcott CM, Pollin TI, Reinhart LJ, Ott SH, Shen H, Silver K, Mitchell BD, Shuldiner AR.  Polymorphisms in the transcription factor 7-like 2 (TCF7L2)gene are associated with type 2 diabetes in the Amish: Replication and evidence for a role in both insulin resistance and insulin secretion.  Diabetes 55: 2654-2659, 2006 

McArdle PF, Pollin TI, O’Connell JR, Sorkin JD, Agarwala R, Schäffer AA, Streeten EA, King TM, Shuldiner AR, Mitchell BD.  Does having children extend lifespan?  A genealogical study of parity and longevity in the Amish.   J Gerontol A Biol Sci Med Sci 61: 90-95, 2006. 

Streeten EA, McBride DJ, Pollin TI, Ryan KA, Shapiro J, Ott S, Mitchell BD, Shuldiner AR, O’Connell JR.  Quantitative trait loci for bone mineral density identified by genome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis Study.   J Bone Miner Res 21:1433-1442, 2006 . 

Zeggini E, Damcott C, Karim MA, Rayner NW, Groves CJ, Baier LJ, Cox NJ, Hale TC, Hanson RL, Hattersley AT, Hitman GA, Hunt SE, Knowler WC, Mitchell BD, Ng MCY, O’Connell J, Pollin TI, Prochazka M, Vaxillaire M, Walker M, Wang X, Whittaker P, Xiang K, Jia W, Chan JC, Froguel P, Bogardus C, Deloukas P, Shuldiner AR, Elbein SC, McCarthy MI, for the International type 2 diabetes 1q consortium.  Variation within the gene encoding the Upstream Stimulatory Factor 1 (USF1) does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q.   Diabetes 55: 2541-2548, 2006. 

 

2005

Brown LB, Streeten EA, Shapiro JR, McBride D, Shuldiner AR, Peyser PA, Mitchell BD.  Genetic and environmental influences on bone mineral density in pre- and post-menopausal women Osteoporosis Internat 16:1849-1856, 2005.

Damcott CM, Ott SH, Pollin TI, Reinhart LJ, Wang J, O'Connell JR, Mitchell BD, Shuldiner AR.  Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order Amish.  Diabetes 54:2245-50, 2005. 

Mentuccia D, Thomas MT, Coppotelli G, Reinhart L, Mitchell BD, Shuldiner AR, Celi FS.  The Thr92Ala deiodinase type 2 polymorphism is not associated with indexes of insulin resistance in the Old Order Amish.  Thyroid 15: 1223-1227, 2005.

Pollin TI, Tanner K, O'Connell JR, Ott SH, Damcott CM, Shuldiner AR, McLenithan JC, Mitchell BD.  Linkage of plasma adiponectin levels to 3q27 explained by association with variation in the APM1 gene.  Diabetes 54:268-274, 2005.

Sabra M, Damcott C, Fu M, Ott S, O'Connell J, Mitchell BD, Shuldiner AR.  Vesicle-associated membrane protein 4 (VAMP4), a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order Amish.   Molec Genetics Metab 85:133-139, 2005.

Sorkin J, Post W, Pollin TI, O'Connell JR, Mitchell BD, Shuldiner AR.  Exploring the genetics of longevity in the Old Order Amish.   Mech Aging Dev 126:347-350, 2005.

Steinle NI, Pollin TI, O’Connell JR, Mitchell BD, Shuldiner AR.  Variants in the ghrelin gene are associated with metabolic syndrome and related traits in the Old Order Amish.  J Clin Endo & Metabolism 90(12):6672-6677, 2005 

Streeten, EA, Ryan KA, McBride D, Pollin TI, Shuldiner AR, Mitchell BD.  The relation between parity and bone mineral density in women characterized by a homogeneous lifestyle and high parity.  J Clin Endocrinol Metab 90:4536-4541, 2005 

 

2004

Brown LB, Streeten EA, Shuldiner AR, Almasy LA, Peyser PA, Mitchell BD. Assessment of sex-specific genetic and environmental effects on bone mineral density.  Genetic Epid 27:153-161, 2004
Damcott C, Hoppman N, Reinhart LJ, Wang J, O'Connell JR, Mitchell BD, Shuldiner AR.  Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the Amish. Diabetes 53:3337-3341, 2004 

Fu M, Damcott C, Sabra M, Pollin TI, Ott S, Wang J, Garant M, O'Connell J, Mitchell BD, Shuldiner AR.  Polymorphism in the Calsequestrin 1 gene on chromosome 1q21 is associated with type 2 diabetes in the Old Order Amish.   Diabetes 53:3292-3299, 2004. 

Pollin TI, Hsueh W-C, Steinle NI, Snitker S, Shuldiner AR, Mitchell BD.  A genome-wide scan of lipid levels in the Old Order Amish.   Atherosclerosis 173:89-96, 2004 (pdf);  (Supplemental Data). 

Snitker S., Shuldiner A.R. BMI in the Old Order Amish (letter).  Med Sci Sports Exerc 36, 1447, 2004. 

Streeten EA, McBride DJ, Lodge A, Pollin T, Stinchcomb DG, Agarwala R, Schäffer AA, Shapiro JR, Shuldiner AR, Mitchell BD.  Reduced Incidence of Hip Fracture in the Old Order Amish.   J Bone Miner Res 19:308-313, 2004 . 

Steinle NI, Kazlauskaite R, Imumorin IG, Hsueh W-C, Pollin TI, Mitchell BD, Shuldiner AR.  Variation in the lamin A/C (LMNA) gene: Associations with metabolic syndrome. Arterio Thromb Vasc Biol 24:1708-13, 2004. 

 

2003

Allen EM, Hsueh W-C, Sabra MM, Pollin TI, Ladenson PW, Silver KD, Mitchell BD, Shuldiner AR.  A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: Replication of genetic linkage on chromosome 5q11.2-q14.3. J Clin Endocrinol Metab 88:1292-1296, 2003. 

Hsueh W-C, St. Jean PL, Mitchell BD, Pollin TI, Knowler WC, Ehm MG, Bell CJ, Sakul H, Wagner MJ, Burns DK, Shuldiner AR.  Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: Evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24.   Diabetes 52:550-557,  2003.

Miura J, Pollin T, Hu Y, Notkins AL, Shuldiner AR.  Autoantibodies in type 2 and type 2 diabetes in the Old Order Amish of Pennsylvania.  Diabetologia 46, 1024-1025, 2003.  

Snitker S, Mitchell BD, Shuldiner AR.  Physical activity and prevention of type 2 diabetes (letter). Lancet 361:87-88, 2003.

 

2000 thru 2002

Hsueh W-C, Mitchell BD, Aburomia R, Sakul H, Ehm MG, Michelsen B, Wagner MJ, St. Jean PL, Knowler WC, Burns DK, Bell CJ, Shuldiner AR.  Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study.  Diab Care 23:595-601, 2000.  

Hsueh W-C, Mitchell BD, Schneider JL, Wagner M, Bell CJ, Nanthakamur E, Shuldiner AR.  A QTL influencing blood pressure maps to the region of PPH1 on chromosome 2q31-34 in the Old Order Amish. Circulation 101:2810-2816, 2000.

Hsueh W-C, Mitchell BD, Schneider JL, St. Jean PL, Pollin TI, Ehm MG, Wagner MJ, Burns DK, Bell CJ, Shuldiner AR.  Genome-wide scan of obesity and leptin levels in the Old Order Amish. J Clin Endocrinol Metab 86:1199-1205, 2001.

Mitchell BD, Hsueh W-C, King TM, Pollin TI, Sorkin J, Agarwala R, Schaffer AA, Shuldiner AR.  Heritability of life span in the Old Order Amish.  Am J Med Genet 102:346-352, 2001.
   
Steinle N, Hsueh W-C, Snitker S, St. Jean PL, Sakul H, Ehm MG, Burns DK, Bell CJ, Mitchell BD, Shuldiner AR.  Eating behavior in the Old Order Amish: heritability analysis and a genome wide scan.  Am J Clin Nutr 75:1098-1106, 2002. 

Steinle N, Shuldiner AR. The Old Order Amish: A unique model to study aging.  J Brit Menop Soc 6, 127-128, 2000.