Association of HLA ‐ DQA 1 gene polymorphisms with the risk of children primary nephrotic syndrome in Chinese population

Background The association between gene polymorphisms and the risk of primary nephrotic syndrome ( PNS ) is uncovering recently. This study aims to investigate the relationship between single nucleotide polymorphisms ( SNP s) on HLA ‐ DQA 1 gene and the risk of PNS . Methods In this study, we genotyped eight single nucleotide polymorphisms ( SNP s) in the HLA ‐ DQA 1 gene in 501 PNS patients and 532 healthy people in Chinese population. Then we analyzed associations of these SNP s with the clinical features in primary nephrotic syndrome of children in Chinese population. Results Significant associations with PNS were found on missense SNP rs1129740 ( GG vs AA , odds ratio ( OR ) = 1.987, 95% confidence interval ( CI ) = 1.468‐2.652, P  = 0.00177049) and rs1047992 ( AA vs GG , OR  = 1.857, 95% CI  = 1.325‐2.391, P  = 1.1073E‐10) of the HLA ‐ DQA 1 gene. Conclusions This work suggests SNP s of HLA ‐ DQA 1 are risk factors for PNS in Chinese population, which implies roles of immune response in the pathogenesis of PNS .