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GWAS Study

Genome-wide association study of serum minerals levels in children of different ethnic background.

Chang X, Li J, Guo Y et al.

25886283 PubMed ID
GWAS Study Type
3600 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

CX
Chang X
LJ
Li J
GY
Guo Y
WZ
Wei Z
MF
Mentch FD
HC
Hou C
ZY
Zhao Y
QH
Qiu H
KC
Kim C
SP
Sleiman PM
HH
Hakonarson H
Chapter II

Abstract

Summary of the research findings

Calcium, magnesium, potassium, sodium, chloride and phosphorus are the major dietary minerals involved in various biological functions and are commonly measured in the blood serum. Sufficient mineral intake is especially important for children due to their rapid growth. Currently, the genetic mechanisms influencing serum mineral levels are poorly understood, especially for children. We carried out a genome-wide association (GWA) study on 5,602 European-American children and 4,706 African-American children who had mineral measures available in their electronic medical records (EMR). While no locus met the criteria for genome-wide significant association, our results demonstrated a nominal association of total serum calcium levels with a missense variant in the calcium -sensing receptor (CASR) gene on 3q13 (rs1801725, P = 1.96 × 10(-3)) in the African-American pediatric cohort, a locus previously reported in Caucasians. We also confirmed the association result in our pediatric European-American cohort (P = 1.38 × 10(-4)). We further replicated two other loci associated with serum calcium levels in the European-American cohort (rs780094, GCKR, P = 4.26 × 10(-3); rs10491003, GATA3, P = 0.02). In addition, we replicated a previously reported locus on 1q21, demonstrating association of serum magnesium levels with MUC1 (rs4072037, P = 2.04 × 10(-6)). Moreover, in an extended gene-based association analysis we uncovered evidence for association of calcium levels with the previously reported gene locus DGKD in both European-American children and African-American children. Taken together, our results support a role for CASR and DGKD mediated calcium regulation in both African-American and European-American children, and corroborate the association of calcium levels with GCKR and GATA3, and the association of magnesium levels with MUC1 in the European-American children.

2,317 European ancestry children, 1,283 African American ancestry children

Chapter III

Study Statistics

Key metrics and study information

3600
Total Participants
GWAS
Study Type
No
Replicated
European, African American or Afro-Caribbean
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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