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GWAS Study

A genome-wide association study of early menopause and the combined impact of identified variants.

Perry JR, Corre T, Esko T et al.

23307926 PubMed ID
GWAS Study Type
25431 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PJ
Perry JR
CT
Corre T
ET
Esko T
CD
Chasman DI
FK
Fischer K
FN
Franceschini N
HC
He C
KZ
Kutalik Z
MM
Mangino M
RL
Rose LM
VS
Vernon Smith A
SL
Stolk L
SP
Sulem P
WM
Weedon MN
ZW
Zhuang WV
AA
Arnold A
AA
Ashworth A
BS
Bergmann S
BJ
Buring JE
BA
Burri A
CC
Chen C
CM
Cornelis MC
CD
Couper DJ
GM
Goodarzi MO
GV
Gudnason V
HT
Harris T
HA
Hofman A
JM
Jones M
KP
Kraft P
LL
Launer L
LJ
Laven JS
LG
Li G
MB
McKnight B
MC
Masciullo C
ML
Milani L
ON
Orr N
PB
Psaty BM
RP
Ridker PM
RF
Rivadeneira F
SC
Sala C
SA
Salumets A
SM
Schoemaker M
TM
Traglia M
WG
Waeber G
CS
Chanock SJ
DE
Demerath EW
GM
Garcia M
HS
Hankinson SE
HF
Hu FB
HD
Hunter DJ
LK
Lunetta KL
MA
Metspalu A
MG
Montgomery GW
MJ
Murabito JM
NA
Newman AB
OK
Ong KK
ST
Spector TD
SK
Stefansson K
SA
Swerdlow AJ
TU
Thorsteinsdottir U
VD
Van Dam RM
UA
Uitterlinden AG
VJ
Visser JA
VP
Vollenweider P
TD
Toniolo D
MA
Murray A
Chapter II

Abstract

Summary of the research findings

Early menopause (EM) affects up to 10% of the female population, reducing reproductive lifespan considerably. Currently, it constitutes the leading cause of infertility in the western world, affecting mainly those women who postpone their first pregnancy beyond the age of 30 years. The genetic aetiology of EM is largely unknown in the majority of cases. We have undertaken a meta-analysis of genome-wide association studies (GWASs) in 3493 EM cases and 13 598 controls from 10 independent studies. No novel genetic variants were discovered, but the 17 variants previously associated with normal age at natural menopause as a quantitative trait (QT) were also associated with EM and primary ovarian insufficiency (POI). Thus, EM has a genetic aetiology which overlaps variation in normal age at menopause and is at least partly explained by the additive effects of the same polygenic variants. The combined effect of the common variants captured by the single nucleotide polymorphism arrays was estimated to account for ∼30% of the variance in EM. The association between the combined 17 variants and the risk of EM was greater than the best validated non-genetic risk factor, smoking.

3,493 European ancestry cases, 13,598 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

25431
Total Participants
GWAS
Study Type
Yes
Replicated
3,412 European ancestry cases, 4,928 European ancestry controls
Replication Participants
European
Ancestry
Italy, U.K., Switzerland, U.S., Iceland, Netherlands
Recruitment Country
Chapter IV

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