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ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

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Kidney Week

Abstract: SA-OR26

Genome-wide Analyses Provide Insights into the Architecture of Kidney Function and CKD in African Americans in the Million Veteran Program (MVP)

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Rowan, Bryce, Nashville VAMC, Nashville, Tennessee, United States
  • Robinson-Cohen, Cassianne, Nashville VAMC, Nashville, Tennessee, United States
  • Akwo, Elvis A., VUMC, Nashville, Tennessee, United States
  • Chen, Hua-Chang, VUMC, Nashville, Tennessee, United States
  • Tao, Ran, VUMC, Nashville, Tennessee, United States
  • Chung, Cecilia P., VUMC, Nashville, Tennessee, United States
  • Kovesdy, Csaba P., Memphis VA, Memphis, Tennessee, United States
  • Susztak, Katalin, Penn Medicine, Philadelphia, Pennsylvania, United States
  • O'Donnell, Christopher Joseph, Boston VA, Nahsville, Massachusetts, United States
  • Siew, Edward D., Nashville VAMC, Nashville, Tennessee, United States
  • Hung, Adriana, Nashville VAMC, Nashville, Tennessee, United States

End-stage kidney disease (ESKD) incidence rates for African Americans are more than 3 times higher than for European-Americans. This disparity has been only partly explained by known determinants of ESKD and the presence of high-risk APOL1 variants. The identification of “second hit” triggers may explain kidney outcome disparities observed in African Americans.


We performed a GWAS of eGFR among 84,544 African Americans from the MVP at or closest to enrollment. Exclusion criteria were: dialysis, kidney transplant, and BMI<18. We evaluated the association of common (minor allele frequency > 1%) SNPs with linear eGFR (by CKD-EPI equation), adjusted for age, sex, BMI, and the top ten principal components of ancestry. Analyses were performed by strata of diabetes and estimates were aggregated with fixed-effects meta-analysis.


We identified 2,275 SNPs in 22 independent loci associated with eGFR (p<5x10-8). The SNP with the strongest signals replicated previously detected associations at SPATA5L1/GATM (rs2486272, p = 1.7 x 10-60). Of these, 19 represented previously reported loci from GWAS of kidney function or CKD. Known CKD genes from case-control studies such as APOL1 (rs73885319 p=9.09x10-28) were included in the known loci. Three were novel loci for the association with kidney function in African Americans. Of the novel variants, we discovered SNPs in ABCA1 (rs10991574 p = 2.97x10-8) associated with accelerated atherosclerosis and lipid metabolism through PPAR alpha , PIK3AP1(rs556476 p = 3.1 x10-09) associated with leukocyte count and BLNK(rs9664029 p=2.49 10-8) associated with colorectal adenoma. Some of the strongest signals previously reported for kidney phenotypes included: DAB2 (rs2542713 p=1.5 x 10-8), OCT2 (rs2279463, p=1.98 10-14), UNCX (rs62435145 p=1.97 10-12) and PRKAG2 (rs10253736 p=3.0x10-8 ). 70 SNPs were exonic variants overall. SNPs within UMOD/PDILT, the top hits for kidney function GWAS and CKD progression among European-Americans, did not reach genome-wide (p=9.19x10-8) significance.


In this large GWAS of eGFR among African Americans to date, we replicate over 19 previously identified loci, identify 3 novel loci associate with kidney function.


  • Veterans Affairs Support