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Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B
Author(s) -
Nolan Vikki G.,
Ma Qianli,
Cohen Herbert T.,
Adewoye Adeboye,
Rybicki Anne C.,
Baldwin Clinton,
Mahabir Rhea N.,
Homan Erica P.,
Wyszynski Diego F.,
Fabry Mary E.,
Nagel Ronald L.,
Farrer Lindsay A.,
Steinberg Martin H.
Publication year - 2007
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20800
Subject(s) - sickle cell anemia , renal function , haplotype , single nucleotide polymorphism , medicine , biology , endocrinology , disease , genotype , gene , genetics
Abstract Renal disease is common in sickle cell anemia. In this exploratory work, we used data from a longitudinal study of the natural history of sickle cell disease to examine the hypothesis that polymorphisms (SNPs) in selected candidate genes are associated with glomerular filtration rate (GFR). DNA samples and clinical and laboratory data were available for 1,140 patients with sickle cell anemia. GFR was estimated using the Cockcroft–Gault and Schwartz formulas for adults and children, respectively. We examined ∼175 haplotype tagging (ht) SNPs in about 70 genes of the TGFβ/BMP pathway for their association with GFR using linear regression. Four SNPs in BMPR1B , a bone morphogenetic protein (BMP) receptor gene, yielded statistically significant associations ( P values ranging from 0.015 to 0.046). Three haplotypes in this gene were also associated with GFR. The TGF‐β/BMP pathway has been associated with the development of diabetic nephropathy, which has some features in common with sickle cell nephropathy. Our results suggest that, as with other subphenotypes of sickle cell disease, renal function may be genetically modulated. Am. J. Hematol., 2007. © 2006 Wiley‐Liss, Inc.