Genetic variation and significant association of polymorphism rs7700944 G>A of TIM-4 gene with rheumatoid arthritis susceptibility in Chinese Han and Hui populations

Int J Immunogenet. 2012 Oct;39(5):409-13. doi: 10.1111/j.1744-313X.2012.01103.x. Epub 2012 Feb 21.

Abstract

The T-cell immunoglobulin and mucin domains 1 (TIM-1) and 3 (TIM-3) have been shown to be associated with susceptibility to rheumatoid arthritis (RA) in many ethnicities. In this study, we investigated the rs7700944 polymorphism of the intron region of TIM-4 gene in Chinese Han and Hui populations, with and without RA in Ningxia Hui Autonomous Region of China. Our results demonstrated genetic variations of the TIM-4 gene, along with significantly different distributions of genotypes and alleles at rs7700944 site in these two populations, with or without RA (P < 0.01). In addition, a strong association between the polymorphism with RA susceptibility was found in the studies of Chinese Han and Hui ethnic groups (P < 0.01), although the risk genotype contributed to RA susceptibility was different between the Han and Hui groups (P < 0.01). The AG was the risk genotype for RA in Han population, while GG was the risk genotype at rs7700944 site of TIM-4 gene in Hui ethnicity. In addition to the genotype, the risk alleles of this single nucleotide polymorphism for RA in these two populations were also different, individuals with A allele was more susceptible to RA in Chinese Han [odds ratio (OR) = 1.930; 95% CI 1.412, 2.636; P < 0.01], but the risk allele in Hui was G in this study (OR = 1.823; 95% CI 1.330, 2.498; P < 0.01). These findings strongly suggest that polymorphism of rs7700944 of TIM-4 may be a potential genetic variant among distinguished populations, as well as an important genetic factor associated with the RA susceptibility in many ethnicities.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine / metabolism
  • Alleles
  • Arthritis, Rheumatoid / epidemiology
  • Arthritis, Rheumatoid / genetics*
  • Arthritis, Rheumatoid / metabolism
  • Asian People / genetics
  • Case-Control Studies
  • China / epidemiology
  • Ethnicity / genetics*
  • Female
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Guanine / metabolism
  • Humans
  • Introns
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Risk Factors

Substances

  • Membrane Proteins
  • TIMD4 protein, human
  • Guanine
  • Adenine