Department of Rheumatology and Allergy, Capital Medical University, Beijing, China.
Clin Exp Rheumatol. 2013 Jul-Aug;31(4):546-51. Epub 2013 Apr 22.
We aimed to evaluate the association between polymorphisms of TNFSF4 and primary Sjögren's syndrome (pSS) and primary biliary cirrhosis (PBC) in a Chinese Han population.
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.
In TNFSF4, T allele and TT 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.
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.
我们旨在评估中国人中 TNFSF4 多态性与原发性干燥综合征(pSS)和原发性胆汁性肝硬化(PBC)之间的关联。
共纳入 250 例 pSS 患者、221 例 PBC 患者和 393 名健康对照者。所有个体均为汉族,每组均按性别比例和年龄匹配。我们通过 HapMap 汉族北京数据库确定包含 TNFSF4 的遗传区域中的单核苷酸多态性(SNP),然后使用 Haploview 的 Tagger 程序确定单倍型标签 SNP。通过聚合酶链反应(PCR)扩增 DNA 样本,通过质谱法区分延伸产物。使用 PLINK 软件进行关联分析。
在 TNFSF4 中,rs2205960 的 T 等位基因和 TT 基因型,以及 rs1234313 的 G 等位基因与 pSS 相关(p<0.05);rs2205960 的 T 等位基因与 PBC 相关(p<0.05),是其风险因素。在单倍型分析中,TAGG 和 TGGT 与 pSS 相关(p<0.05)。在遗传加性、显性和隐性模型分析中,rs2205960 与 pSS 和 PBC 均具有显著相关性,rs1234313 与 pSS 具有显著相关性(p<0.05)。但是,经 Bonferroni 校正后无统计学差异。
总体而言,TNFSF4 的等位基因、基因型或单倍型频率与 pSS 或 PBC 的风险之间没有关联。TNFSF4 可能作为中国人中 pSS 和 PBC 的常见遗传成分意义不大。