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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].

作者信息

Zhou Guang-yu, Liu Feng, Zhang Wen-long

机构信息

Department of Nephrology, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):706-10. doi: 10.3760/cma.j.issn.1003-9406.2013.06.016.

DOI:10.3760/cma.j.issn.1003-9406.2013.06.016
PMID:24327152
Abstract

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, 95%CI: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 rs35771982 locus of PLA2R gene.

摘要

目的

评估中国汉族人群中M型磷脂酶A2受体(PLA2R)基因单核苷酸多态性与膜性肾病(MN)之间的关联。

方法

共纳入430名无血缘关系的中国汉族人,其中包括145例特发性膜性肾病(IMN)患者、53例继发性MN患者和232名正常对照(NC)。采用聚合酶链反应-限制性片段长度多态性分析法检测PLA2R基因rs35771982的多态性。通过蛋白质印迹法检测血清抗PLA2R抗体。

结果

rs35771982的基因型和等位基因频率在三组之间存在显著差异(P=0.004;P<0.001)。与NC组(P=0.002;P<0.001)或继发性MN组(P=0.011;P=0.001)相比,CC基因型和C等位基因在IMN组中显著更常见。在IMN组中,CC基因型与血清白蛋白(Alb)、24小时尿蛋白(24h UP)及血清抗PLA2R抗体阳性率相关(P<0.001,P<0.001,P=0.010),并且是IMN的危险因素(OR=8.927,95%CI:2.107-37.821,P=0.003)。

结论

PLA2R基因rs35771982位点的CC基因型和C等位基因与中国汉族人对IMN的易感性相关。CC基因型与IMN严重程度及血清抗PLA2R抗体之间的关联表明,IMN患者抗PLA2R自身抗体的产生与PLA2R基因rs35771982位点的突变有关。

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