ABSTRACT
Introduction: Associations of variations in PLA2R1 and HLA-DQA1 genes with susceptibility to
idiopathic membranous nephropathy (IMN) have been well documented. Association with spontaneous
remission, however, is poorly defined in the Chinese Han population.
Methods: A Chinese cohort of 117 IMN patients and 138 healthy controls were recruited between
July 2009 and November 2019. Case-control studies for single-nucleotide polymorphisms (SNPs) within
HLA-DQA1 (rs2187668) and PLA2R1 (rs35771982, rs4664308, rs3749117, rs3749119) genes were
performed. The contributions of these polymorphisms to predict susceptibility, titre of autoantibodies
against the M-type phospholipase A2 receptor (anti-PLA2R1), glomerular PLA2R1 expression, and
spontaneous remission were analysed.
Results: We found that variations in PLA2R1 (SNPs rs35771982, rs4664308, rs3749117) were strongly
associated with IMN susceptibility, while SNP (rs2187668) within HLA-DQA1 did not increase the risk
of IMN. All SNPs in PLA2R1 and HLA-DQA1 were not statistically associated with anti-PLA2R1 titre,
glomerular PLA2R1 expression and spontaneous remission after Bonferroni correction (P>0.0167). Clinical
and pathological parameters such as lower levels of serum albumin, higher levels of anti-PLA2R1 and
glomerular PLA2R1 expression were independent risk factors for non-spontaneous remission.
Conclusion: This study confirms that variations in PLA2R1 (SNPs rs35771982, rs4664308, rs3749117)
are risk factors for IMN. We found excellent association of serum albumin level, anti-PLA2R1 titre and
glomerular PLA2R1 positivity with non-spontaneous remission in IMN.
Keywords: HLA-DQA1, idiopathic membranous nephropathy, PLA2R1, susceptibility, spontaneous
remission
HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy
