机构：[1]Department of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China风湿免疫科首都医科大学宣武医院[2]Department of Vascular Surgery, Xuanwu Hospital, Capital Medical University, Beijing, China血管外科首都医科大学宣武医院[3]Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China.
Objectives We aimed to evaluate the association between polymorphisms of TNFSF4 and primary Sjogren's syndrome (pSS) and primary biliary cirrhosis (PBC) in a Chinese Han population. Methods A total of 250 pSS patients, 221 PBC patients, and 393 healthy controls were enrolled. All individuals were ethnic Chinese Han, and each group was matched for gender ratio and age. We identified single nucleotide polymorphisms (SNPs) via the HapMap Han Chinese Beijing databank for a genetic region containing TNFSF4, and then identified haplotype tagging SNPs with the Tagger programme of Haploview. DNA samples were amplified through polymerase chain reaction (PCR) and extension products were differentiated via mass spectrometry. Association analyses were performed using PLINK software. Results In TNFSF4, T allele and IT genotype of rs2205960, and G allele of rs1234313, were associated with pSS (p<0.05); T allele of rs2205960 was correlated with PBC (p<0.05) as a risk factor. In the haplotype analysis, TAGG and TGGT were correlated with pSS (p<0.05). In genetic additive, dominant, and recessive models analysis, rs2205960 had a significant association with both pSS and PBC, and rs1234313 presented a significant association with pSS (p<0.05). However, no statistically significant difference was found after Bonferroni corrections. Conclusion Overall, no association between the allele, or genotype, or haplotype frequencies of TNFSF4 and the risk of pSS or PBC was found. TNFSF4 may have little significance as a common genetic component of pSS and PBC in the Chinese Han population.
基金：
National Science and Technology Pillar Programme in the 11th five-year plan of China [2008BAI59B03]; National Science and Technology Major Programme for "Major New Drugs Innovation and Development" [2008ZX09312-016]; Key Disciplines Fund of Ministry of Public Health and the National Natural Science Foundation of China [30471618]
第一作者机构：[1]Department of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[2]Department of Vascular Surgery, Xuanwu Hospital, Capital Medical University, Beijing, China[3]Department of Rheumatology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China.
推荐引用方式(GB/T 7714)：
F. Kong,J.-X. Li,P. Li,et al.Association of TNFSF4 polymorphisms with susceptibility to primary Sjogren's syndrome and primary biliary cirrhosis in a Chinese Han population[J].CLINICAL AND EXPERIMENTAL RHEUMATOLOGY.2013,31(4):546-551.
APA：
F. Kong,J.-X. Li,P. Li,Y.-Z. Li,F.-C. Zhang&J. Zhang.(2013).Association of TNFSF4 polymorphisms with susceptibility to primary Sjogren's syndrome and primary biliary cirrhosis in a Chinese Han population.CLINICAL AND EXPERIMENTAL RHEUMATOLOGY,31,(4)
MLA：
F. Kong,et al."Association of TNFSF4 polymorphisms with susceptibility to primary Sjogren's syndrome and primary biliary cirrhosis in a Chinese Han population".CLINICAL AND EXPERIMENTAL RHEUMATOLOGY 31..4(2013):546-551
