FUT2的常见变异与血浆维生素B12水平相关。

Common variants of FUT2 are associated with plasma vitamin B12 levels.

作者信息

Hazra Aditi, Kraft Peter, Selhub Jacob, Giovannucci Edward L, Thomas Gilles, Hoover Robert N, Chanock Stephen J, Hunter David J

机构信息

Department of Epidemiology, Harvard School of Public Health, Program in Molecular and Genetic Epidemiology, Boston, Massachusetts 02115, USA.

出版信息

Nat Genet. 2008 Oct;40(10):1160-2. doi: 10.1038/ng.210. Epub 2008 Sep 7.

DOI:10.1038/ng.210

PMID:18776911

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2673801/

Abstract

We identified a strong association (P = 5.36 x 10(-17)) between rs492602 in FUT2 and plasma vitamin B(12) levels in a genome-wide scan (n = 1,658) and an independent replication sample (n = 1,059) from the Nurses' Health Study. Women homozygous for the rs492602[G] allele had higher B(12) levels. This allele is in strong linkage disequilibrium with the FUT2 nonsecretor variant encoding W143X, suggesting a plausible mechanism for altered B(12) absorption and plasma levels.

摘要

在一项全基因组扫描（n = 1658）以及来自护士健康研究的一个独立重复样本（n = 1059）中，我们发现FUT2基因中的rs492602与血浆维生素B12水平之间存在强关联（P = 5.36 x 10(-17)）。rs492602[G]等位基因纯合的女性B12水平较高。该等位基因与编码W143X的FUT2非分泌型变体处于强连锁不平衡状态，这提示了B12吸收和血浆水平改变的一种可能机制。