Research Article

Polymorphisms of the TIM-1 gene are associated with rheumatoid arthritis in the Chinese Hui minority ethnic population

Published: January 09, 2012
Genet. Mol. Res. 11 (1) : 61-69 DOI: 10.4238/2012.January.9.7

Abstract

The T-cell immunoglobulin and mucin domain 1 (TIM-1) is known to be associated with susceptibility to rheumatoid arthritis (RA). We investigated the association of four single-nucleotide polymorphisms (SNPs) in the promoter region of the TIM-1 gene with susceptibility to RA in a Chinese Hui ethnic minority group. Using RFLP or sequence specific primer-PCR, 118 RA patients and 118 non-arthritis control individuals were analyzed for the -1637A>G, -1454G>A, -416G>C, and -232A>G SNPs in the TIM-1 gene. The polymorphisms -232A>G and -1637A>G in the promoter region of TIM-1 were found to be associated with susceptibility to the RA gene in the Hui population, while -416G>C and -1454G>A SNPs were not. Of these, the polymorphism of -232A>G is inconsistent with that found in a Korean population, suggesting that genetic variations of the TIM-1 gene contribute to RA susceptibility in different ways among different populations. Based on haplotype analysis, individuals with haplotypes AGCA (Χ2 = 22.0, P 1), AGCG (Χ2 = 18.16, P 1) and AGGA (Χ2 = 5.58, P 1) are at risk to develop RA in the Chinese Hui population; those with the GAGA (Χ2 = 7.44, P G and -232A>G polymorphisms of TIM-1 are associated with susceptibility to RA in the Chinese Hui population.

The T-cell immunoglobulin and mucin domain 1 (TIM-1) is known to be associated with susceptibility to rheumatoid arthritis (RA). We investigated the association of four single-nucleotide polymorphisms (SNPs) in the promoter region of the TIM-1 gene with susceptibility to RA in a Chinese Hui ethnic minority group. Using RFLP or sequence specific primer-PCR, 118 RA patients and 118 non-arthritis control individuals were analyzed for the -1637A>G, -1454G>A, -416G>C, and -232A>G SNPs in the TIM-1 gene. The polymorphisms -232A>G and -1637A>G in the promoter region of TIM-1 were found to be associated with susceptibility to the RA gene in the Hui population, while -416G>C and -1454G>A SNPs were not. Of these, the polymorphism of -232A>G is inconsistent with that found in a Korean population, suggesting that genetic variations of the TIM-1 gene contribute to RA susceptibility in different ways among different populations. Based on haplotype analysis, individuals with haplotypes AGCA (Χ2 = 22.0, P 1), AGCG (Χ2 = 18.16, P 1) and AGGA (Χ2 = 5.58, P 1) are at risk to develop RA in the Chinese Hui population; those with the GAGA (Χ2 = 7.44, P G and -232A>G polymorphisms of TIM-1 are associated with susceptibility to RA in the Chinese Hui population.