CAJ | 학술논문

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。
목적：탐토과막단백39A（TMEM39A）기인적3개위점（1880G/A，2442T/G，2456A/T）단핵감산다태성여계통성홍반랑창（SLE）발병적상관성。방법채용취합매련식반응-한제성내절매편단장도다태성（PCR-RFLP）방법분별대110례중국한족SLE환자급80례건강대조자TMEM39A기인1880G/A、2442T/G、2456A/T위점진행다태성검측，응용χ2검험통계분석병례조화대조조기인형빈솔、등위기인빈솔。결과 SLE환자TMEM39A기인1880G/A위점적AA、GA、GG기인형빈솔여건강대조조간유현저차이（P=0.002），량조간A、G등위기인빈솔분포유현저차이（P=0.044）；2442T/G위점적GG、TG、TT기인형빈솔여건강대조조간유현저차이（P=0.001），량조간G、T등위기인빈솔분포유현저차이（P=0.041）；2456A/T위점적TT、AT、AA기인형빈솔여건강대조조간무현저차이（P>0.05），량조간T、A등위기인빈솔분포무현저차이（P>0.05）；3개위점（1880G/A、2442T/G、2456A/T）적기인형빈솔화등위기인빈솔재랑창성신염환자조화비랑창성신염환자조간분포차이균무통계학의의（P>0.05）。결론TMEM39A기인1880G/A、2442T/G다태성여한족인군SLE적유전역감성유관，TMEM39A기인2456 A/T위점적다태성여한족인군SLE적역감성무상관성；1880G/A、2442T/G、2456 A/T적기인형화등위기인대랑창성신염적발생무현저영향。
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.