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GWAS Study

Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.

Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM et al.

23400010 PubMed ID
GWAS Study Type
767 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

DJ
Del-Aguila JL
BA
Beitelshees AL
CR
Cooper-Dehoff RM
CA
Chapman AB
GJ
Gums JG
BK
Bailey K
GY
Gong Y
TS
Turner ST
JJ
Johnson JA
BE
Boerwinkle E
Chapter II

Abstract

Summary of the research findings

Hydrochlorothiazide (HCTZ) is one of the most widely prescribed antihypertensive medications. Although it is well known that HCTZ is associated with hyperglycemia and hypertriglyceridemia, the mechanisms underlying these adverse effects are not well understood. We performed a genome-wide association study and meta-analysis of the change in fasting plasma glucose and triglycerides in response to HCTZ from two different clinical trials: the Pharmacogenomic Evaluation of Antihypertensive Responses and the Genetic Epidemiology of Responses to Antihypertensive studies. Two single-nucleotide polymorphisms (rs12279250 and rs4319515 (r(2)=0.73)), located at 11p15.1 in the NELL1 gene, achieved genome-wide significance for association with change in fasting plasma triglycerides in African Americans, whereby each variant allele was associated with a 28 mg dl(-1) increase in the change in triglycerides. NELL1 encodes a cytoplasmic protein that contains epidermal growth factor-like repeats and has been shown to represses adipogenic differentiation. These findings may represent a novel mechanism underlying HCTZ-induced adverse metabolic effects.

425 European ancestry cases, 342 African American cases

Chapter III

Study Statistics

Key metrics and study information

767
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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