Insights into type 1 diabetes provided by genetic analyses

Curr Opin Endocrinol Diabetes Obes. 2012 Aug;19(4):263-70. doi: 10.1097/MED.0b013e328355b7fe.

Abstract

Purpose of review: Recent identification of over 60 loci contributing to the susceptibility of developing type 1 diabetes (T1D) provides a timely opportunity to assess what is currently known of the genetics of T1D, and what these discoveries may tell us about the disease itself.

Recent findings: The major findings will be discussed under five main themes: T1D risk gene identification, molecular mechanisms of susceptibility, shared genetic cause with other diseases, development of novel analytical methods, and understanding disease heterogeneity.

Summary: The plethora of T1D risk genes that have been identified risk overwhelming clinicians with lists of gene names and symbols that have little bearing on management, and provide a challenge for researchers to place the genetics of T1D in a more amenable clinical context.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Female
  • Genetic Loci / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • HLA-DQ Antigens / genetics
  • HLA-DR Antigens / genetics
  • Humans
  • Male
  • Polymorphism, Single Nucleotide*

Substances

  • HLA-DQ Antigens
  • HLA-DR Antigens