The goal of T2D-GENES is to identify both common and rare genetic variants for type 2 diabetes and related traits by utilizing both exome and whole genome sequencing of individuals from existing, well-characterized, multiethnic human studies. These studies seek to elucidate both shared and ethnic-specific genetic risk and protective variants for type 2 diabetes, to explore the underlying mechanisms and interactions of the identified genetic components with each other and/or the environment the potential to uncover new therapeutic targets, predictive markers, and preventive strategies.

The T2D-GENES consortium currently is focusing on two sequencing projects:

1) Whole Exome Sequencing in T2D Case/Control samples from multiple studies consisting of different ethnic groups.

a. Type 2 diabetes in African Americans (Wake Forest University): 1091 African American individuals from the southeastern US, 548 with type 2 diabetes and kidney disease, and 543 controls.

b. Starr County Health Studies’ Genetics of Diabetes Study: 1623 Mexican American individuals from Starr County, Texas,838 with type 2 diabetes and 785 controls.

c. NHLBI Jackson Heart Study: 1148 African American individuals from Jackson, Mississippi metropolitan area, 574 with type 2 diabetes and 574 controls.

d. San Antonio Family Studies: 584 Mexican American individuals from San Antonio, Texas, 313 with type 2 diabetes and 256 controls.

e. Metabolic Syndrome in Men (METSIM): 1040 men from Kuopio, Finland, 520 with type 2 diabetes and 520 controls.

f. Other T2D-GENES samples :

i. Singapore Chinese/Singapore Asian Indian: 2276 South Indian individuals residing in Singapore, 1074 with type 2 diabetes and 1202 controls.

ii. Korean Association Resource (KARE ): 1124 Korean individuals, 541 with type 2 diabetes and 583 controls.

iii. Lolipop: 1200 Asian Indian individuals residing in the UK, 600 with type 2 diabetes and 600 controls.

iv. Ashkenazi : 1078 Ashkenazi individuals from the USA and Israel, 550 with type 2 diabetes cases and 528 controls.

2) Whole Genome Sequencing in Individuals from Pedigrees with Diabetes

a. San Antonio Family Studies: 600 members from 20 multiplex Mexican American Families selected from two ongoing studies: the San Antonio Family Heart Study (SAFHS) and the San Antonio Family Diabetes/Gallbladder Study (SAFDGS). Variants identified by sequencing will be imputed throughout the pedigrees.