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Single-nucleotide polymorphisms in the PLA2R1 gene are associated with systemic lupus erythematosus and lupus nephritis in a Chinese Han population

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Abstract

Several novel susceptibility genes for systemic lupus erythematosus (SLE) and other nephropathy have been identified in recent genome-wide association studies. Membranous nephropathy is the most common diagnosis in adults with the nephrotic syndrome, and both idiopathic membranous nephropathy (IMN) and lupus nephritis (LN) are autoimmune diseases of the kidney; they may share common disease mechanisms that overlap with genetic susceptibility. Therefore, we sought to identify genetic variants associated with IMN in SLE/LN. The PLA2R1 single-nucleotide polymorphisms rs4664308, rs3828323, rs3792189, and rs3792192 were genotyped in a cohort of 1247 SLE patients and 1174 healthy controls, using the Sequenom MassArray system method. PLA2R1 displayed a nominally significantly genetic association with SLE [for rs4664308, P = 0.02, odds ratio (OR) 1.16, 95 % confidence interval (CI) 1.02–1.31; for rs3792192, P = 7.9 × 10−3, OR 1.18, 95 % CI 1.05–1.34] and LN (for rs4664308, P = 0.04). The frequencies of genotypes of rs3792189 and rs3828323 were significantly different between the SLE patients and controls (all P < 0.05), and the haplotype (AA) formed by rs3792189 and rs3792192 was associated with SLE (P = 0.019). This was the first study to reveal that PLA2R1 polymorphisms were associated with SLE/LN patients, indicating that PLA2R1 might be a susceptibility gene for SLE/LN in a Chinese Han population.

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Acknowledgments

This work was supported by funding from the Research Special Fund for Public Welfare Industry of Health (201202004), the National Natural Science Foundation of China Grants (81172857, 81373188), the Chinese National High Technology Research and Development Program, Ministry of Science and Technology Grants (2011AA02A113), the National Science Technology Pillar Program in the 12th Five-year Plan (2014BAI07B00), and the Capital Health Research and Development of Special (2014-1-4011).

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Correspondence to Yongzhe Li.

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The authors declared that they have no conflicts of interest with this work.

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Yuan Li, Aihong Zhou, and Guanting Lv contributed equally to this work.

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Li, Y., Zhou, A., Lv, G. et al. Single-nucleotide polymorphisms in the PLA2R1 gene are associated with systemic lupus erythematosus and lupus nephritis in a Chinese Han population. Immunol Res 64, 324–328 (2016). https://doi.org/10.1007/s12026-015-8755-9

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  • DOI: https://doi.org/10.1007/s12026-015-8755-9

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