Association of single nucleotide polymorphism in M-type phospholipase A2 receptor gene with membranous nephropathy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%CI2.107-37.821, P=0.003).</p><p><b>CONCLUSION</b>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.</p>