期刊
CIRCULATION-CARDIOVASCULAR GENETICS
卷 2, 期 2, 页码 142-U111出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/CIRCGENETICS.108.829804
关键词
genetics; metabolism; amino acids
资金
- National Heart, Lung, and Blood Institute
- National Cancer Institute (Bethesda, Md) [HL080467, HL043851, CA047988]
- Donald W. Reynolds Foundation (Las Vegas, Nev)
- Doris Duke Charitable Foundation (New York, NY)
- Fondation Leducq (Paris, France)
- European Commission [LSHM-2007-027273]
- British Heart Foundation
- Knut and Alice Wallenberg Foundation
- Swedish Medical Research Council [8691]
- Swedish Heart-Lung Foundation
- Karolinska Institutet
- Stockholm County Council [560183]
- FRSQ
- MRC [MC_U137686857] Funding Source: UKRI
- Medical Research Council [MC_U137686857] Funding Source: researchfish
Background-Homocysteine is a sulfur amino acid whose plasma concentration has been associated with the risk of cardiovascular diseases, neural tube defects, and loss of cognitive function in epidemiological studies. Although genetic variants of MTHFR and CBS are known to influence homocysteine concentration, common genetic determinants of homocysteine remain largely unknown. Methods and Results-To address this issue comprehensively, we performed a genome-wide association analysis, testing 336 469 single-nucleotide polymorphisms in 13 974 healthy white women. Although we confirm association with MTHFR (1p36.22; rs1801133; P=8.1X10(-35)) and CBS (21q22.3; rs6586282; P=3.2X10(-10)), we found novel associations with CPS1 (2q34; rs7422339; P=1.9X10(-11)), MUT (6p12.3; rs4267943; P=2.0X10(-9)), NOX4 (11q14.3; rs11018628; P=9.6X10(-12)), and DPEP1 (16q24.3; rs1126464; P=1.2X10(-12)). The associations at MTHFR, DPEP1, and CBS were replicated in an independent sample from the PROCARDIS study, whereas the association at CPS1 was only replicated among the women. Conclusions-These associations offer new insight into the biochemical pathways involved in homocysteine metabolism and provide opportunities to better delineate the role of homocysteine in health and disease. (Circ Cardiovasc Genet. 2009; 2: 142-150.)
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据