Major histocompatibility complex class I chain related gene-A microsatellite polymorphism shows secondary association with type 1 diabetes and celiac disease in North Indians

Tissue Antigens. 2012 Oct;80(4):356-62. doi: 10.1111/j.1399-0039.2012.01931.x. Epub 2012 Jul 26.

Abstract

Microsatellite polymorphism in exon 5 of major histocompatibility complex class I chain related gene-A (MIC-A) has been implicated in the etiology of autoimmune diseases including type 1 diabetes (T1D) and celiac disease (CD). In this study on North Indian population, the MIC-A5.1 allele, carrying a premature termination codon in transmembrane region, was observed with increased frequency in T1D (29.6%, odds ratio OR = 2.1, P = 0.00017) and CD patients (40.3%, OR = 3.37, P = 1.67E-05) than in controls (16.7%). When the MIC-A5.1 association was adjusted for linkage with human leukocyte antigen (HLA)-DR3, the statistical significance of the association was abolished. This implies that the observed association of MIC-A5.1 is due to its linkage disequilibrium (D' = 0.94) with HLA-B8-DR3-DQ2 haplotype and is secondary to the overall association with DR3 positive MHC haplotypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Case-Control Studies
  • Celiac Disease / genetics*
  • Celiac Disease / immunology
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Female
  • Gene Frequency
  • HLA-B8 Antigen / genetics
  • HLA-B8 Antigen / immunology
  • HLA-DQ Antigens / genetics
  • HLA-DQ Antigens / immunology
  • HLA-DR3 Antigen / genetics
  • HLA-DR3 Antigen / immunology
  • Haplotypes
  • Histocompatibility Antigens Class I / genetics*
  • Histocompatibility Antigens Class I / immunology
  • Humans
  • India
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Protein Isoforms / genetics
  • Protein Isoforms / immunology
  • White People

Substances

  • HLA-B8 Antigen
  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DR3 Antigen
  • Histocompatibility Antigens Class I
  • MHC class I-related chain A
  • Protein Isoforms