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GWAS Study

Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.

Mullin BH, Walsh JP, Zheng HF et al.

26911590 PubMed ID
GWAS Study Type
6696 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MB
Mullin BH
WJ
Walsh JP
ZH
Zheng HF
BS
Brown SJ
SG
Surdulescu GL
CC
Curtis C
BG
Breen G
DF
Dudbridge F
RJ
Richards JB
ST
Spector TD
WS
Wilson SG
Chapter II

Abstract

Summary of the research findings

Osteoporosis is a common and debilitating bone disease that is characterised by a low bone mineral density (BMD), a highly heritable trait. Genome-wide association studies (GWAS) have proven to be very successful in identifying common genetic variants associated with BMD adjusted for age, gender and weight, however a large portion of the genetic variance for this trait remains unexplained. There is evidence to suggest significant genetic correlation between body size traits and BMD. It has also recently been suggested that unintended bias can be introduced as a result of adjusting a phenotype for a correlated trait. We performed a GWAS meta-analysis in two populations (total n = 6,696) using BMD data adjusted for only age and gender, in an attempt to identify genetic variants associated with BMD including those that may have potential pleiotropic effects on BMD and body size traits.

1,042 Northern European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

6696
Total Participants
GWAS
Study Type
Yes
Replicated
5,654 Northern European ancestry individuals
Replication Participants
European
Ancestry
U.K.
Recruitment Country
Chapter IV

AI-Generated Summary

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