Genome-wide association study of selenium concentrations

source extracted confidence: high 2026-04-09
#coronary-artery-disease #genetic-loci #genetic-predisposition-to-disease #genome-wide-association-study #genotype

Genome-wide association study of selenium concentrations

Cornelis et al., 2015 | Hum Mol Genet | Meta Analysis

Citation

Cornelis Marilyn C, Fornage Myriam, ... He Ka. Genome-wide association study of selenium concentrations. Hum Mol Genet. 2015-Mar-01;24(5):1469-77. doi:10.1093/hmg/ddu546

Abstract

Selenium (Se) is an essential trace element in human nutrition, but its role in certain health conditions, particularly among Se sufficient populations, is controversial. A genome-wide association study (GWAS) of blood Se concentrations previously identified a locus at 5q14 near BHMT. We performed a GW meta-analysis of toenail Se concentrations, which reflect a longer duration of exposure than blood Se concentrations, including 4162 European descendants from four US cohorts. Toenail Se was measured using neutron activation analysis. We identified a GW-significant locus at 5q14 (P < 1 × 10(-16)), the same locus identified in the published GWAS of blood Se based on independent cohorts. The lead single-nucleotide polymorphism (SNP) explained ∼1% of the variance in toenail Se concentrations. Using GW-summary statistics from both toenail and blood Se, we observed statistical evidence of polygenic overlap (P < 0.001) and meta-analysis of results from studies of either trait (n = 9639) yielded a second GW-significant locus at 21q22.3, harboring CBS (P < 4 × 10(-8)). Proteins encoded by genes at 5q14 and 21q22.3 function in homocysteine (Hcy) metabolism, and index SNPs for each have previously been associated with betaine and Hcy levels in GWAS. Our findings show evidence of a genetic link between Se and Hcy pathways, both involved in cardiometabolic disease.

Key Findings

Our findings show evidence of a genetic link between Se and Hcy pathways, both involved in cardiometabolic disease.

Outcomes Measured

  • Requires manual extraction

Population

Field Value
Population See abstract
Sample Size 9639
Age Range See abstract
Condition See abstract

MeSH Terms

  • Coronary Artery Disease
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Genotyping Techniques
  • Homocysteine
  • Humans
  • Nails
  • Polymorphism, Single Nucleotide
  • Selenium
  • Selenoproteins
  • Thioredoxin Reductase 1

Evidence Classification

  • Level: Meta Analysis
  • Publication Types: Journal Article, Meta-Analysis, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.
  • Vertical: selenium

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09