Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population

BMC Med Genet. 2010 Jan 20:11:11. doi: 10.1186/1471-2350-11-11.

Abstract

Background: Type 1 diabetes is a multifactorial disease with a strong genetic component. The aim of the study was to assess the impact of single nucleotide polymorphisms (SNPs) in several genes as susceptible markers in the risk of type 1 diabetes in the Estonian population.

Methods: The rs6679677 (1p13), rs17696736 (12q24) and rs763361 (18q22) were genotyped in a total of 230 controls and 154 type 1 diabetes patients of Estonian origin.

Results: The rs6679677 A (OR = 2.13, 95%CI = 1.48-3.08, p = 0.00001), rs17696736 G (OR = 1.53, 95%CI = 1.14-2.04, p = 0.0046) and rs763361 T (OR = 1.48, 95%CI = 1.11-1.98, p = 0.0084) alleles were associated with risk of type 1 diabetes.

Conclusions: The current study supports the rs6679677 (PHTF1-PTPN22), rs17696736 (C12orf30) and rs763361 (CD226) SNPs as susceptibility factors for type 1 diabetes outside the major histocompatibility region (MHC) region. The full study had 80% or above to detect an odds ratio of 1.8 under the assumption of an additive model at type 1 error rate, alpha = 0.05.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Antigens, Differentiation, T-Lymphocyte / genetics*
  • Case-Control Studies
  • Diabetes Mellitus, Type 1 / genetics*
  • Estonia
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Homeodomain Proteins / genetics*
  • Humans
  • Major Histocompatibility Complex / genetics
  • Male
  • Middle Aged
  • N-Terminal Acetyltransferase B
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Proteins / genetics*
  • Risk Factors
  • Transcription Factors / genetics*
  • White People / genetics*

Substances

  • Antigens, Differentiation, T-Lymphocyte
  • CD226 antigen
  • Homeodomain Proteins
  • NAA25 protein, human
  • PHTF1 protein, human
  • Proteins
  • Transcription Factors
  • N-Terminal Acetyltransferase B
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22