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Toni I. Pollin

Toni I. Pollin Ph.D.

Academic Title: Associate Professor
Primary Appointment: Medicine
Secondary Appointments: Epidemiology & Public Health
Additional Title(s): Track Leader, Human Genetics and Genomic Medicine; Program in Epidemiology and Human Genetics, Graduate Program in Life Sciences
Location: Howard Hall, Room 445C
Phone: (410) 706-1630
Fax: (410) 706-1622

Personal History:

  • PhD, Human Genetics, University of Maryland Baltimore
  • MS, Molecular, Cellular, Developmental Biology and Genetics/Genetic Counseling, University of Minnesota

Research Interests:

My research focuses on using statistical methods to discern the genetic factors in conjunction with environmental factors causing common complex diseases primarily with adult onset. Particular diseases of interest to me are type-2 diabetes mellitus and cardiovascular disease. One approach I am using is to look at influences on quantitative traits related to the diseases such as fasting triglycerides and triglyceride response to a high fat meal. Through a genome-wide association study of participants in the Heredity and Phenotype Intervention (HAPI) Heart Study who completed a high fat challenge, I recently identified a mutation in the APOC3 gene that prevents the production of apoC-III protein from the mutated allele. This mutation is present in 5% of the Lancaster County Old Order Amish and appears rare or absent in the general population. Mutation carriers have low triglycerides and LDL cholesterol levels, high HDL cholesterol levels and apparent cardioprotection as measured by decreased prevalence of coronary artery calcification. I am conducting additional studies of the role of this protein and mutation in lipid metabolism, cardiovascular disease, and related morbidity and mortality.

Recently a multi-center clinical trial known as the Diabetes Prevention Program (DPP) showed that either intensive lifestyle intervention or metformin could reduce or delay the incidence of diabetes in a vulnerable population (individuals with impaired glucose tolerance, also known as pre-diabetes). To learn what the genetic differences are between responders and non-responders (those who developed diabetes even with intervention), I am currently collaborating with colleagues at the Broad Institute, NIDDK in Phoenix and the George Washington University Data Coordinating Center to perform association studies in approximately 50 candidate genes in DPP participants. We believe that by identifying genetic variants associated with responses to interventions, we are enhancing our ability to develop and customize tools to better predict, prevent and treat diabetes.

As a genetic counselor, I am also concerned with making sure that available research becomes available clinically in a timely manner. To that end I am developing a project which will (1) assess the prevalence of a monogenic form of diabetes called MODY (maturity onset diabetes of the young) in a diabetes clinic population and in women with gestational diabetes, (2) evaluate the interest and utility of clinical testing for MODY in these populations.


Search My Publications in Pub Med


Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith AC (1999). Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. Am J Med Genet. 85(4):369-75.

Davidson ME, Weingarten K, Pollin TI, Wilson MA, Wilker N, Hsu N, Weiss JO (2000). Consumer perspectives on genetic testing: implications for building family-centered public policies. Families, Systems and Health 18(2):217-235.

Pollin TI, Hsueh W-C, Steinle NI, Snitker S, Shuldiner AR, Mitchell BD (2004). A Genome-Wide Scan of Serum Lipid Levels in the Old Order Amish. Atherosclerosis 173:89-96.

Shuldiner AR, Hoppman N, Pollin TI (2004). Invited Editorial: Hepatic Lipase Genotype, Diabetes Risk and Implications for Preventative Medicine. Journal of Clinical Endocrinology and Metabolism 89:2015-2018.

Pollin TI, Tanner K, O'Connell JR, Ott SH, Damcott CM, Shuldiner AR, McLenithan JC, Mitchell BD (2005). Linkage of plasma adiponectin levels to 3q27 explained by association with variation in the APM1 gene. Diabetes 54(1):268-274.

Damcott CM, Ott SH, Pollin TI, Reinhart LJ, Wang J, O'Connell JR, Mitchell BD, Shuldiner AR (2005). Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order Amish. Diabetes 54(7):2245-2250.

Florez JC, Jablonski KA, Bayley N, Pollin TI, de Bakker PI, Shuldiner AR, Knowler WC, Nathan DM, Altshuler D; Diabetes Prevention Program Research Group (2006). TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med. 355(3):241-50.

Damcott CM, Pollin TI, Reinhart LJ, Ott SH, Shen H, Silver KD, Mitchell BD, Shuldiner AR (2006). 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 secretion and insulin resistance. Diabetes 55(9):2654-9.

Pollin TI, McBride DJ, Agarwala R, Schäffer AA, Shuldiner AR, Mitchell BD, O'Connell JR (2008). Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish. Human Heredity 65(2):91-104.

Mitchell BD, McArdle PF, Shen H, Rampersaud E, Pollin TI, Bielak LF, Jaquish C, Douglas JA, Roy-Gagnon MH, Sack P, Naglieri R, Hines S, Horenstein RB, Chang YP, Post W, Ryan KA, Brereton NH, Pakyz RE, Sorkin J, Damcott CM, O'Connell JR, Mangano C, Corretti M, Vogel R, Herzog W, Weir MR, Peyser PA, Shuldiner AR (2008). 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. 155(5):823-8.

Rampersaud E, Mitchell BD, Pollin TI, Fu M, Shen H, O'Connell JR, Ducharme JL, Hines S, Sack P, Naglieri R, Shuldiner AR, Snitker S (2008). Physical activity and the association of common FTO gene variants with body mass index and obesity. Arch Intern Med. 168(16):1791-7.

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.