Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

JAMA: June 11, 2014

Importance  Latino populations have one of the highest prevalences of type 2 diabetes worldwide.

Objectives  To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships.

Design, Setting, and Participants  Whole-exome sequencing was performed on DNA samples from 3756 Mexican and US Latino individuals (1794 with type 2 diabetes and 1962 without diabetes) recruited from 1993 to 2013. One variant was further tested for allele frequency and association with type 2 diabetes in large multiethnic data sets of 14 276 participants and characterized in experimental assays.

Main Outcome and Measures  Prevalence of type 2 diabetes. Secondary outcomes included age of onset, body mass index, and effect on protein function. Read More