MYH9、STAT4、uPA基因多态性与特发性膜性肾病的相关性

Association of MYH9,STAT4 and uPA gene single nucleotide polymorphism with idiopathic membranous nephropathy

目的：探讨MYH9（rs12107）、STAT4（rs3024912）、uPA（rs4065）单核苷酸多态性与特发性膜性相关性。方法：2011年6月至2015年5月在新疆维吾尔自治区人民医院确诊的45例特发性膜性肾病（IMN）患者为病例组（IMN组），45例IgA肾病（IgAN）患者为疾病对照组（IgAN组），45例健康体检者为健康对照组，选取直接测序方法检测rs12107、rs3024912、rs4065位点单核苷酸多态性（SNP），分析3个位点基因型及等位基因频率与IMN相关性。结果：A组rs12107位点CC基因型、C等位基因频率（48．9％、65．6％）高于B组（13.3％、33．3％）和C组（20．0％、46．7％），差异有统计学意义（P〈0．05）：C等位基因携带者患IMN的风险是T等位基因的2．18倍（95％CI1．19～3．97）：单因素Logistic回归分析rs12107位点CC基因型较非CC基因型的患者发生肾功能衰竭的风险高（OR=5．56，95％CI 1．27～24．29，P=0．023）；rs3024912基因型和等位基因频率在3组之间差异均无统计学意义；rs3024912位点GG基因型的患者是非GG基因型的患者发生肾功能衰竭风险的6．30倍（95％CI1．48～26．83，P=0．013）；rs4065位点只有TT一种基因型，未见到TC、CC基因型。结论：MYH9基因m12107位点CC基因型和C等位基因是新疆维吾尔族IMN的易感因素，且CC基因型与肾功能相关：STAT4基因rs3024912位点GG基因型与新疆维吾尔族IMN易感性无关．但与肾功能相关。

Objective To investigate thecorrelation between nonmusle myosin heavy chain 9 gene （MYH9） rs12107, signal transducer and activator of transcription （STAT4） rs3024912, Urokinase plasminogen activator （uPA） rs4065 single nucleotide polymorphism and idiopathic Uighur membranous nephropathy （IMN）. Methods Patients admittedby People＇s Hospital of Xinjiang Uyghur Autonomous Region from June 2011 to May 2015 were selected in the research, of which 45 with IMN （group A）, 45 patients with IgA nephropathy （group B） and 45 healthy controls （group C）. The polymorphisms of rs12107, rs3024912 and rs4065 were measured with direct sequencing, in order to analyzing the correlation between genotype and allele with IMN. Results Group Ars12107 （MYH9） locus genotype CC, C allele （48.9%, 65.6%） frequency were higher than those in group B （13.3%, 33.3%） and group C （20.0%, 46.7%）, and the difference was statistically significance （P 〈 0.05）. C allele carriers of the risk of IMN is 2.18 times that of the T allele（95% CI： 1.19-3.97）. Univariate Logistic regression analysis of rs12107 CC genotype showed patients with CC genotype faced with high risk of renal failure （OR = 5.56,95% CI： 1.27-24.29, P = 0.023） compared with non-CC genotype patients, rs3024912 genotype and allele frequencies showed no significant difference among the three groups （P 〉 0.05）. rs3024912 GG genotype patients showed higher risk of renal failure compared with non-GG genotype patients （95% CI： 1.48- 26.83, P = 0.013）. Only TT genotype was detected on rs4065 locus. TC and CC genotype were not detected. Conclusions MYH9 gene rs12107 locus CC genotype and C allele are associated with susceptibility to IMN in Xinjiang Uygur, and CC genotypes associated with renal function, rs3024912 （STAT4）GG genotype are not susceptibility gene, but associated with renal function in patients with IMN.