论文部分内容阅读
Objective: TNFSF4 and TNFAIP3 polymorphisms have been related to susceptibility for different autoimmune diseases including SSc in Caucasian population.Whether the polymorphisms in the TNFSF4 and TNFAIP3 contribute to the development of SSc in Asians has not been identified.Therefore we sought to explore genetic variants associated with TNFSF4 and TNFAIP3 in SSc and subphenotype.Methods: The TNFSF4 SNPs(rs1234314,rs2205960,rs12039904 and rs844648)and TNFAIP3 SNPs(rs5029939 and rs6932056)were genotyped in a cohort of 1030 SSc patients and 1215 healthy controls,using the Sequenom MassArray system method.Results: The rs844648 in TNFSF4 region was significantly associated with SSc in the allelic and genotypic frequencies(p =1.7×10-3and p=5.0×10-3).The allelic frequencies of the rs6932056 in the TNFAIP3 was significant difference between SSc patients and the controls(p=5.0×10-3).Other three TNFSF4 SNPs(rs1234314,rs2205960 and rs12039904)and the TNFAIP3 SNP(rs5029939)demonstrated weak association with SSc for the allelic frequency(p<0.05).In addition,all of the six SNPs were associated with ILD(p<0.05).The rs1234314-rs2205960 haplotypes CG and GT were related to SSc(p=0.024 and p=0.022).The rs12039904-rs844648 haplotypes CG and TA were related to SSc(p=0.005 and p=0.026).Conclusion: This was the first study to identify TNFSF4 and TNFAIP3 polymorphisms were associated with SSc/ILD patients in a Chinese Han population,indicating that TNFSF4 and TNFAIP3 might be susceptibility genes for SSc/ILD in Chinese Han population.