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MYH9 and APOL1 are both associated with sickle cell disease nephropathy.

Publication ,  Journal Article
Ashley-Koch, AE; Okocha, EC; Garrett, ME; Soldano, K; De Castro, LM; Jonassaint, JC; Orringer, EP; Eckman, JR; Telen, MJ
Published in: Br J Haematol
November 2011

Renal failure occurs in 5-18% of sickle cell disease (SCD) patients and is associated with early mortality. At-risk SCD patients cannot be identified prior to the appearance of proteinuria and the pathobiology is not well understood. The myosin, heavy chain 9, non-muscle (MYH9) and apolipoprotein L1 (APOL1) genes have been associated with risk for focal segmental glomerulosclerosis and end-stage renal disease in African Americans. We genotyped 26 single nucleotide polymorphisms (SNPs) in MYH9 and 2 SNPs in APOL1 (representing the G1 and G2 tags) in 521 unrelated adult (18-83 years) SCD patients screened for proteinuria. Using logistic regression, SNPs were evaluated for association with proteinuria. Seven SNPs in MYH9 and one in APOL1 remained significantly associated with proteinuria after multiple testing correction (P < 0·0025). An MYH9 risk haplotype (P = 0·001) and the APOL1 G1/G2 recessive model (P < 0·0001) were strongly associated with proteinuria, even when accounting for the other. Glomerular filtration rate was negatively correlated with proteinuria (P < 0·0001), and was significantly predicted by an interaction between MYH9 and APOL1 in age-adjusted analyses. Our data provide insight into the pathobiology of renal dysfunction in SCD, suggesting that MYH9 and APOL1 are both associated with risk.

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Published In

Br J Haematol

DOI

EISSN

1365-2141

Publication Date

November 2011

Volume

155

Issue

3

Start / End Page

386 / 394

Location

England

Related Subject Headings

  • Young Adult
  • Polymorphism, Single Nucleotide
  • Myosin Heavy Chains
  • Molecular Motor Proteins
  • Middle Aged
  • Male
  • Lipoproteins, HDL
  • Kidney Diseases
  • Immunology
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Ashley-Koch, A. E., Okocha, E. C., Garrett, M. E., Soldano, K., De Castro, L. M., Jonassaint, J. C., … Telen, M. J. (2011). MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol, 155(3), 386–394. https://doi.org/10.1111/j.1365-2141.2011.08832.x
Ashley-Koch, Allison E., Emmanuel C. Okocha, Melanie E. Garrett, Karen Soldano, Laura M. De Castro, Jude C. Jonassaint, Eugene P. Orringer, James R. Eckman, and Marilyn J. Telen. “MYH9 and APOL1 are both associated with sickle cell disease nephropathy.Br J Haematol 155, no. 3 (November 2011): 386–94. https://doi.org/10.1111/j.1365-2141.2011.08832.x.
Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, et al. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. 2011 Nov;155(3):386–94.
Ashley-Koch, Allison E., et al. “MYH9 and APOL1 are both associated with sickle cell disease nephropathy.Br J Haematol, vol. 155, no. 3, Nov. 2011, pp. 386–94. Pubmed, doi:10.1111/j.1365-2141.2011.08832.x.
Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. 2011 Nov;155(3):386–394.
Journal cover image

Published In

Br J Haematol

DOI

EISSN

1365-2141

Publication Date

November 2011

Volume

155

Issue

3

Start / End Page

386 / 394

Location

England

Related Subject Headings

  • Young Adult
  • Polymorphism, Single Nucleotide
  • Myosin Heavy Chains
  • Molecular Motor Proteins
  • Middle Aged
  • Male
  • Lipoproteins, HDL
  • Kidney Diseases
  • Immunology
  • Humans