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GWAS Study

HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.

Menzel S, Garner C, Rooks H et al.

23043469 PubMed ID
GWAS Study Type
4038 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MS
Menzel S
GC
Garner C
RH
Rooks H
ST
Spector TD
TS
Thein SL
Chapter II

Abstract

Summary of the research findings

Using a genome-wide association study, we found that common inter-individual differences in haemoglobin A(2) (HbA(2) , α(2) δ(2) ) levels are largely governed by genetic factors (42% of variability). The influence of age (1%) and sex (4%) was small. HbA(2) levels were influenced by two loci: the HBS1L-MYB locus on chromosome 6q, which has been shown to have pleiotropic effects on other haematological traits; and a second locus surrounding HBB, the gene encoding β-globin. Our results suggest that HbA(2) levels in adults are influenced by two different biological processes: one via kinetics of erythropoiesis, and the other, via competition between HBB and HBD activity.

2,322 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

4038
Total Participants
GWAS
Study Type
Yes
Replicated
1,716 European ancestry individuals
Replication Participants
European
Ancestry
U.K.
Recruitment Country
Chapter IV

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