The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population

J Cell Mol Med. 2002 Jan-Mar;6(1):75-81. doi: 10.1111/j.1582-4934.2002.tb00312.x.

Abstract

Several studies suggested that part of the genetic susceptibility for Type 1 diabetes (T1DM) is encoded by some polymorphisms of CTLA-4 gene (2q33) and of Vitamin D Receptor gene (VDR; 12q12-14). Our aim was to assess their contribution to T1DM genetic susceptibility in the Romanian population. We typed CTLA-4 49 A/G and VDR FokI (F/f), ApaI (A/a) and TaqI (T/t) polymorphisms by Sequence Specific Primer PCR (SSP-PCR) in 204 Romanian diabetic families (756 individuals: 212 T1DM probands and 544 unaffected parents and siblings). We studied alleles transmission using the Transmission Disequilibrium Test (TDT). We found an increased transmission of CTLA-4 49G allele to diabetics (54.8%, p=0.11). The transmission of F (56.1%, p=0.063), a (55.7%, p=0.061) and T (51.8%, p=0.37) alleles of VDR gene to diabetics was increased but did not reach statistical significance. In conclusion we found the same increased transmission of CTLA-4 49 G allele to diabetics as previously reported. VDR FoqI F allele seems to be predisposing while TaqI T allele seems to be protective.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abatacept
  • Adolescent
  • Adult
  • Alleles
  • Antigens, CD
  • Antigens, Differentiation / genetics*
  • CTLA-4 Antigen
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Humans
  • Immunoconjugates*
  • Immunoglobulin Fc Fragments / genetics
  • Infant
  • Male
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*
  • Romania

Substances

  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Immunoconjugates
  • Immunoglobulin Fc Fragments
  • Receptors, Calcitriol
  • Abatacept