南方医科大学学报

南方医科大学学报 ›› 2014, Vol. 34 ›› Issue (04): 556-.

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中国汉族TMEM39A基因单核苷酸多态性与系统性红斑狼疮的相关性

章俊，马亚琼，邱敏姿，杨蕾，卜阳，汤珣   

  • 出版日期:2014-04-20 发布日期:2014-04-20

Correlation between TMEM39A gene polymorphism and systemic lupus erythematosus
in Chinese Han patients

  • Online:2014-04-20 Published:2014-04-20

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摘要： 目的探讨跨膜蛋白39A（TMEM39A）基因的3个位点（1880G/A，2442T/G，2456A/T）单核苷酸多态性与系统性红斑狼疮
（SLE）发病的相关性。方法采用聚合酶链式反应-限制性内切酶片段长度多态性（PCR-RFLP）方法分别对110例中国汉族SLE
患者及80例健康对照者TMEM39A基因1880G/A、2442T/G、2456A/T位点进行多态性检测，应用χ2检验统计分析病例组和对照
组基因型频率、等位基因频率。结果SLE患者TMEM39A基因1880G/A位点的AA、GA、GG基因型频率与健康对照组间有显
著差异（P=0.002），两组间A、G等位基因频率分布有显著差异（P=0.044）；2442T/G位点的GG、TG、TT基因型频率与健康对照组
间有显著差异（P=0.001），两组间G、T等位基因频率分布有显著差异（P=0.041）；2456A/T位点的TT、AT、AA基因型频率与健康
对照组间无显著差异（P>0.05），两组间T、A等位基因频率分布无显著差异（P>0.05）；3个位点（1880G/A、2442T/G、2456A/T）的
基因型频率和等位基因频率在狼疮性肾炎患者组和非狼疮性肾炎患者组间分布差异均无统计学意义（P>0.05）。结论
TMEM39A基因1880G/A、2442T/G多态性与汉族人群SLE的遗传易感性有关，TMEM39A基因2456 A/T位点的多态性与汉族
人群SLE的易感性无相关性；1880G/A、2442T/G、2456 A/T的基因型和等位基因对狼疮性肾炎的发生无显著影响。

Abstract: Objective To investigate the association between single nucleotide polymorphisms (SNPs) of the transmembrane
protein 39A (TMEM39A) at the loci 1880G/A, 2442T/G, and 2456A/T and systemic lupus erythematosus (SLE) in Chinese Han
patients. Methods TMEM39A gene polymorphisms at 3 loci (1880G/A, 2442T/G, 2456 A/T) were analyzed using polymerase
chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 110 Chinese Han patients with SLE and 80 normal
control subjects, and the allele and genotype frequencies were compared by Chi-square test between the two groups. Results
Both the genotype frequencies (AA, GA and GG) and allele frequencies (A and G) at 1880G/A differed significantly between
SLE cases and the normal controls (P=0.002 and P=0.044, respectively). The two groups also showed significant differences in
the genotype frequencies (GG, TG and TT) (P=0.001) and allele frequencies (G and T) (P=0.041) at 2442T/G. No significant
differences were found in the genotype frequencies (TT, AT and AA) or allele frequencies (T and A) at 2456A/T between the
two groups (P>0.05). The allele and genotype frequencies of the 3 SNPs showed no significant differences between lupus
nephritis (LN) patients and non-LN patients. Conclusion The TMEM39A polymorphisms at 1880G/A and 2442T/G, but not at
2456 A/T gene, may be associated with the susceptibility to SLE in Chinese Han population. The genotype or allele frequencies
of the 3 SNPs have no effect on the incidence of lupus nephritis.