title: Polymorphisms of the TIM-1  gene are associated with rheumatoid arthritis in the Chinese Hui minority  ethnic population.
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 (Χ(2) = 22.0, P < 0.01, OR (95%CI) >1), AGCG (Χ(2) =  18.16, P < 0.01, OR (95%CI) >1) and AGGA (Χ(2) =  5.58, P < 0.05, OR (95%CI) >1) are at risk to develop RA in the Chinese  Hui population; those with the GAGA (Χ(2) =  7.44, P < 0.01, OR (95%CI) <1) haplotype may have a decreased likelihood  of RA. GGCA and GGCG are more common in both RA and non-RA subjects. We  conclude that -1637A>G and -232A>G polymorphisms of TIM-1 are associated  with susceptibility to RA in the Chinese Hui population.
authors.affiliation: Key Laboratory of the Ministry of Education for Conservation and Utilization of Special Biological Resources in Western China,  Yinchuan, China.
authors.forename: J R
authors.initials: JR
authors.lastname: Xu
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: X M
authors.initials: XM
authors.lastname: Liu
authors.forename: J Y
authors.initials: JY
authors.lastname: Sun
authors.forename: Y J
authors.initials: YJ
authors.lastname: Wang
mesh_terms: D001172:Arthritis, Rheumatoid / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D005006:Ethnicity / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D000072596:Hepatitis A Virus Cellular Receptor 1; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011991:Receptors, Virus / Q000235:genetics*
chemical_list: C491143:HAVCR1 protein, human; D000072596:Hepatitis A Virus Cellular Receptor 1; D008562:Membrane Glycoproteins; D011991:Receptors, Virus