Suppr超能文献

欧洲血统绝经前女性血清铁表型的全基因组关联研究。

Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.

作者信息

Koller Daniel L, Imel Erik A, Lai Dongbing, Padgett Leah R, Acton Dena, Gray Amie, Peacock Munro, Econs Michael J, Foroud Tatiana

机构信息

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.

出版信息

Blood Cells Mol Dis. 2016 Mar;57:50-3. doi: 10.1016/j.bcmd.2015.12.002. Epub 2015 Dec 3.

Abstract

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.

摘要

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。

相似文献

1
Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.
Blood Cells Mol Dis. 2016 Mar;57:50-3. doi: 10.1016/j.bcmd.2015.12.002. Epub 2015 Dec 3.
2
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
Am J Hum Genet. 2009 Jan;84(1):60-5. doi: 10.1016/j.ajhg.2008.11.011. Epub 2008 Dec 11.
3
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
J Hepatol. 2015 Mar;62(3):664-72. doi: 10.1016/j.jhep.2014.10.017. Epub 2014 Oct 18.
5
Effects of hemochromatosis and transferrin gene mutations on iron dyshomeostasis, liver dysfunction and on the risk of Alzheimer's disease.
Neurobiol Aging. 2012 Aug;33(8):1633-41. doi: 10.1016/j.neurobiolaging.2011.03.005. Epub 2011 Apr 21.
8
A population-based study of the clinical expression of the hemochromatosis gene.
N Engl J Med. 1999 Sep 2;341(10):718-24. doi: 10.1056/NEJM199909023411002.
10
Tumor necrosis factor-alpha promoter variants and iron phenotypes in 785 hemochromatosis and iron overload screening (HEIRS) study participants.
Blood Cells Mol Dis. 2010 Apr 15;44(4):252-6. doi: 10.1016/j.bcmd.2010.01.007. Epub 2010 Feb 23.

引用本文的文献

1
Using Mendelian Randomization to Study the Role of Iron in Health and Disease.
Int J Mol Sci. 2023 Aug 30;24(17):13458. doi: 10.3390/ijms241713458.
2

本文引用的文献

3
The contribution of diet and genotype to iron status in women: a classical twin study.
PLoS One. 2013 Dec 31;8(12):e83047. doi: 10.1371/journal.pone.0083047. eCollection 2013.
7
Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.
PLoS One. 2012;7(6):e38339. doi: 10.1371/journal.pone.0038339. Epub 2012 Jun 22.
8
Iron status and fibroblast growth factor-23 in Gambian children.
Bone. 2012 Jun;50(6):1351-6. doi: 10.1016/j.bone.2012.03.010. Epub 2012 Mar 16.
9
Iron overload in human disease.
N Engl J Med. 2012 Jan 26;366(4):348-59. doi: 10.1056/NEJMra1004967.
10
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans.
J Clin Endocrinol Metab. 2011 Nov;96(11):3541-9. doi: 10.1210/jc.2011-1239. Epub 2011 Aug 31.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验