Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B
Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B
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DOI：
10.1002/ajh.20800
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发表时间：
2007-03-01
影响因子：
12.8
通讯作者：
Steinberg, Martin H.
中科院分区：
文献类型：
--
作者：
Nolan, Vikki G.;Ma, Qianli;Steinberg, Martin H.
肾脏疾病常见于镰状细胞性贫血。在这项探索性工作中，我们使用镰状细胞病自然史的纵向研究数据来检验选定候选基因中的多态性 (SNP) 与肾小球滤过率 (GFR) 相关的假设。获得了 1,140 名镰状细胞性贫血患者的 DNA 样本以及临床和实验室数据。分别使用成人和儿童的 Cockcroft-Gault 和 Schwartz 公式估算 GFR。我们使用线性回归检查了 TGF beta/BMP 通路的约 70 个基因中的类似 175 个单倍型标记 (ht) SNP，以了解它们与 GFR 的关联。 BMPR1B（一种骨形态发生蛋白（BMP）受体基因）中的四个SNP产生了统计学上显着的关联（P值范围为0.015至0.046）。该基因中的三个单倍型也与 GFR 相关。 TGF-β/BMP 通路与糖尿病肾病的发生有关，糖尿病肾病与镰状细胞肾病具有一些共同特征。我们的结果表明，与镰状细胞病的其他亚表型一样，肾功能可能受到基因调节。是。 J.赫马托尔。 82：179-184，2007。 (c) 2006 Wiley-Liss, Inc.
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 similar to 175 haplotype tagging (ht) SNPs in about 70 genes of the TGF beta/BMP pathway for their association with GFR using linear regression. Four SNPs in BMPRlB, a bone morphogenetic protein (BMP) receptor gene, yielded statistically significant associations (Pvalues ranging from 0.015 to 0.046). Three haplotypes in this gene were also associated with GFR. The TGF-beta/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. 82:179-184,2007. (c) 2006 Wiley-Liss, Inc.