M型磷脂酶A2受体基因单核苷酸多态性与膜性肾病的相关性  

Association of single nucleotide polymorphism in M-type phospholipase A2 receptor gene with membranous nephropathy

作　　者：周广宇[1] 

机构地区：[1]吉林大学中日联谊医院肾病内科,长春130033

出　　处：《中华医学遗传学杂志》2013年第6期706-710,共5页Chinese Journal of Medical Genetics

基　　金：吉林省科技厅国际科技合作项目（20100738）;吉林大学基本科研业务费项目--科学前沿与交叉学科创新项目;吉林大学与日本北里大学校际交流项目

摘　　要：目的探讨M型磷脂酶A2受体（M—typephospholipaseA2receptor，PLA2R）基因单核苷酸多态性与膜性肾病（membranousnephropathy，MN）的相关性。方法选取145例特发性膜性肾病（idiopathicmembranousnephropathy，IMN）患者、53例继发性MN患者和232名正常对照。用聚合酶链反应=限制性片段长度多态性分析PLA2R基因rs35771982位点的单核苷酸多态；用Western印迹法检测IMN患者血清抗PLA2R抗体。结果三组人群PLA2R基因rs35771982位点的基因型和等位基因频率差异均有统计学意义（P=0．004；P〈0．001）；IMN组CC基因型和C等位基因的频率显著高于正常对照组（P=0．002；P〈0．001）和继发性MN组（P=0．011；P=0．001）。CC基因型是IMN的风险因素（OR=8．927，95％CI：2．107～37．821，P=0．003）。CC基因型患者血清Alb水平明显低于CG和GG基因型患者（P〈O．001），24h尿蛋白量和抗PLA2R抗体阳性率明显高于其它基因型患者（P〈0．001，P=0．010）。结论中国汉族人群PLA2R基因rs35771982位点CC基因型和c等位基因是IMN的易感因素，CC基因型与病情和血清抗PLA2R抗体相关，表明IMN患者抗PLA2R自身抗体的产生可能与rs35771982位点的基因突变相关。Objective To assess the association between single nucleotide polymorphism in M type phospholipase A2 receptor （PLA2R）gene and membranous nephropathy （MN） in a Chinese Han population. Methods A total of 430 non-related Chinese Hans were enrolled, which included 145 patients with idiopathic membranous nephropathy （IMN）, 53 patients with secondary MN and 232 normal controls （NC）. The polymorphism of rs35771982 in PLA2R gene was determined with polymerase chain reaction- restriction fragment length polymorphism assay. Serum anti-PLA2R antibodies were detected by Western blotting. Results The genotypic and allelic frequencies for rs35771982 was significantly different among the three groups （P=0. 004; P〈0. 001）. CC genotype and C allele were significantly more common in IMN group compared with NC group （P=0. 002; P〈0. 001） or secondary MN group （P〈0. 011; P=0. 001）. In the IMN group, the CC genotype was correlated with serum albumin （Alb）, 24-hour urine protein （24h UP） and positive rate of serum anti-PLA2R antibody （P〈0. 001, P%0. 001, P= 0. 010）, and was a risk factor for IMN （OR=8.927, 95CI：2. 107-37. 821, P=0.003）. Conclusion The CC genotype and C allele at rs35771982 in PLA2R gene are associated with susceptibility to IMN in Chinese Hans. The associations between CC genotype and severity of IMN as well as serum anti-PLA2R antibody have indicated that production of anti-PLA2R autoantibody in IMN patients is associated with mutation at the rs35771982locus of PLA2R gene.

关 键 词：肾小球.肾炎 膜性 M型磷脂酶A2受体 单核苷酸多态性 

分 类 号：R692.3[医药卫生—泌尿科学]