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Abstract: PO1648

Genome-wide Association Study of Lupus Nephritis in Chinese Han Population

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Song, Kangkang, Department of Nephrology, the First Medical Centre, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Kidney Diseases., Beijing, China
  • Zheng, Xiaodong, Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, China
  • Liu, Xiaomin, Department of Nephrology, the First Medical Centre, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Kidney Diseases., Beijing, China
  • Zhang, Xuejun, Institute of Dermatology and Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, China
  • Chen, Xiangmei, Department of Nephrology, the First Medical Centre, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Kidney Diseases., Beijing, China
Background

Lupus nephritis (LN) is one of the most common and serious complications of systemic lupus erythematosus (SLE). The genetic factors play a vital role in the pathogenesis of LN. The purpose of this study was to screen for susceptible variants of LN in Chinese Han populations in whole genome.

Methods

A genome-wide association study (GWAS) was performed in 592 LN patients and 453 SLE patients without LN. Fifty-six single nucleotide polymorphisms (SNPs) in 34 loci were selected for replication in independent cohort of 188 LN and 171 SLE without LN patients. Besides, gene-based analysis of selected loci was performed in the enlarged population (2336 LN and 2466 SLE without LN patients) based on exome Asian array data.

Results

We identified 9 SNPs suggesting a correlation with LN (P<10-4). The most significant SNP was rs12606116 (18p11.32) with P=6.75×10−6. The rest SNPs were rs11826924 (11p15.2, INSC), rs10151371 and rs17124022 (14q31.3, GPR65), rs10435744 (9p24.1, CD274), rs203339 and rs433091 (12q24.23, CIT), rs7157731 (14q32.2, WDR25), rs2372192 (3p14.1, MAGI1). Gene-based analysis results showed 11 suggestive LN related genes in 11 loci (P<0.05): GPR139 (16p12.3), TH (11p15.5), SEMA6D (15q21.1), EPHA5 (4q13.1), ADAM8 (10q26.3), BDKRB2 (14q32.2), SLC26A7 (8q21.3), AQPEP (5q23.1), C15orf55 (15q14), TGM1 (14q12), GRIP1 (12q14.3). The relation of 14q32.2 and LN was showed in both replication stages.

Conclusion

Association Analysis of LN was performed in Chinese Han SLE patients for the first time. Multiple susceptible genes were identified moderately associated with LN which may advance our understanding of the genetic basis of LN.

study design

Manhattan plot of genome-wide association analysis of LN.

Funding

  • Government Support - Non-U.S.