跨膜蛋白39A基因单核苷酸多态性与中国南方汉族人群系统性红斑狼疮相关性研究

Polymorphisms of transmembrane protein 39A gene and risk of SLE in southern Chinese Han population

目的探讨跨膜蛋白39A(TMEM39A)基因2个单核苷酸多态性位点(rs1132202,rs13082536)与中国南方汉族人群系统性红斑狼疮(SLE)易感性有无关联。方法采用PCR和直接测序法分别对116例SLE患者和90例健康对照者TMEM39A基因rs1132202、rs13082536的基因多态性进行检测,比较组间基因型和等位基因频率的差异,并与主要临床指标进行相关性分析。结果中国南方汉族人群SLE患者rs1132202 GG基因型缺失,CC、CG基因型及C、G基因频率与正常对照组间差异无统计学意义(P>0.05)。rs13082536 TT基因型缺失,GG、GT基因型及G、T基因频率与正常对照组间差异无统计学意义(P>0.05)。TMEM39A rs1132202、rs13082536基因型及等位基因频率与中国南方汉族人群SLE患者抗核抗体及肾损害临床表现均无关(P>0.05)。结论 TMEM39A rs1132202、rs1308253基因多态性与中国南方汉族人群SLE易感性及抗核抗体,肾损害主要临床指标均无显著相关性。

【Objective】 To investigate the relationship between single nucleotide polymorphism sites rs1132202 and rs13082536 of transmembrane protein 39A（TMEM39A） gene and systemic lupus erythematosus（SLE） in southern Chinese Han population.【Methods】 First,the two SNP sites（rs1132202 and rs13082536）were genotyped using polymerase chain reaction and direct sequencing in 116 SLE patients and 90 healthy controls from South China.Then the differences in genotypes and allele frequencies between the two groups were analyzed.In addition,the association between the two SNPs and the main clinical indicators of SLE was also analyzed.【Results】 The GG genotype of rs1132202 was missing in southern Chinese Han population,and no statistical difference in CC/CG genotypic frequency or C/G allelic frequency was found between the SLE patients and the healthy controls（P〉0.05）.The TT genotype of rs13082536 was also missing and GG/GT genotypic frequency or G/T allelic frequency had no significant difference between both groups（P〉0.05）.TMEM39 A rs1132202 and rs13082536 genotypes and allele frequencies in the SLE patients were not correlated with antinuclear antibody（ANA） positivity or kidney damage（P〉0.05）.【Conclusions】 There is no association between SLE susceptibility and the two polymorphisms（rs1132202 and rs1308253） of TMEM39 A gene in southern Chinese Han population.The two polymorphisms in the SLE patients are not correlated with ANA or renal damage.