Koller Daniel L, Imel Erik A, Lai Dongbing, Padgett Leah R, Acton Dena, Gray Amie, Peacock Munro, Econs Michael J, Foroud Tatiana
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Blood Cells Mol Dis. 2016 Mar;57:50-3. doi: 10.1016/j.bcmd.2015.12.002. Epub 2015 Dec 3.
A genome-wide association study was performed on 1130 premenopausal women to detect common variants associated with three serum iron-related phenotypes. Total iron binding capacity was strongly associated (p=10(-14)) with variants in and near the TF gene (transferrin), the serum iron transporting protein, and with variants in HFE (p=4×10(-7)), which encodes the human hemochromatosis gene. Association was also detected between percent iron saturation (p=10(-8)) and variants in the chromosome 6 region containing both HFE and SLC17A2, which encodes a phosphate transport protein. No significant associations were detected with serum iron, but variants in HFE were suggestive (p=10(-6)). Our results corroborate prior studies in older subjects and demonstrate that the association of these genetic variants with iron phenotypes can be detected in premenopausal women.
对1130名绝经前女性进行了全基因组关联研究,以检测与三种血清铁相关表型相关的常见变异。总铁结合力与转铁蛋白(TF基因)及其附近的变异(转铁蛋白,血清铁转运蛋白)以及HFE基因(p = 4×10(-7))中的变异密切相关(p = 10(-14)),HFE基因编码人类血色素沉着病基因。在铁饱和度百分比(p = 10(-8))与包含HFE和SLC17A2(编码一种磷酸盐转运蛋白)的6号染色体区域中的变异之间也检测到关联。未检测到与血清铁有显著关联,但HFE基因中的变异具有提示性(p = 10(-6))。我们的结果证实了先前在老年受试者中的研究,并表明这些基因变异与铁表型的关联在绝经前女性中也可检测到。