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GWAS Study

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

Mathieson I, Day FR, Barban N et al.

36864135 PubMed ID
GWAS Study Type
819971 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MI
Mathieson I
DF
Day FR
BN
Barban N
TF
Tropf FC
BD
Brazel DM
VA
Vaez A
VZ
van Zuydam N
BB
Bitarello BD
GE
Gardner EJ
AE
Akimova ET
AA
Azad A
BS
Bergmann S
BL
Bielak LF
BD
Boomsma DI
BK
Bosak K
BM
Brumat M
BJ
Buring JE
CD
Cesarini D
CD
Chasman DI
CJ
Chavarro JE
CM
Cocca M
CM
Concas MP
DS
Davey Smith G
DG
Davies G
DI
Deary IJ
ET
Esko T
FJ
Faul JD
FO
Franco O
GA
Ganna A
GA
Gaskins AJ
GA
Gelemanovic A
DG
de Geus EJC
GC
Gieger C
GG
Girotto G
GB
Gopinath B
GH
Grabe HJ
GE
Gunderson EP
HC
Hayward C
HC
He C
VH
van Heemst D
HW
Hill WD
HE
Hoffmann ER
HG
Homuth G
HJ
Hottenga JJ
HH
Huang H
HE
Hyppӧnen E
IM
Ikram MA
JR
Jansen R
JM
Johannesson M
KZ
Kamali Z
KS
Kardia SLR
KM
Kavousi M
KA
Kifley A
KT
Kiiskinen T
KP
Kraft P
KB
Kühnel B
LC
Langenberg C
LG
Liew G
LP
Lind PA
LJ
Luan J
MR
Mägi R
MP
Magnusson PKE
MA
Mahajan A
MN
Martin NG
MH
Mbarek H
MM
McCarthy MI
MG
McMahon G
MS
Medland SE
MT
Meitinger T
MA
Metspalu A
ME
Mihailov E
ML
Milani L
MS
Missmer SA
MP
Mitchell P
MS
Møllegaard S
MD
Mook-Kanamori DO
MA
Morgan A
VD
van der Most PJ
DM
de Mutsert R
NM
Nauck M
NI
Nolte IM
NR
Noordam R
PB
Penninx BWJH
PA
Peters A
PP
Peyser PA
PO
Polašek O
PC
Power C
PA
Pribisalic A
RP
Redmond P
RJ
Rich-Edwards JW
RP
Ridker PM
RC
Rietveld CA
RS
Ring SM
RL
Rose LM
RR
Rueedi R
SV
Shukla V
SJ
Smith JA
SS
Stankovic S
SK
Stefánsson K
SD
Stöckl D
SK
Strauch K
SM
Swertz MA
TA
Teumer A
TG
Thorleifsson G
TU
Thorsteinsdottir U
TA
Thurik AR
TN
Timpson NJ
TC
Turman C
UA
Uitterlinden AG
WM
Waldenberger M
WN
Wareham NJ
WD
Weir DR
WG
Willemsen G
ZJ
Zhao JH
ZW
Zhao W
ZY
Zhao Y
SH
Snieder H
DH
den Hoed M
OK
Ong KK
MM
Mills MC
PJ
Perry JRB
Chapter II

Abstract

Summary of the research findings

Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identified 43 genomic loci associated with either number of children ever born (NEB) or childlessness. These loci span diverse aspects of reproductive biology, including puberty timing, age at first birth, sex hormone regulation, endometriosis and age at menopause. Missense variants in ARHGAP27 were associated with higher NEB but shorter reproductive lifespan, suggesting a trade-off at this locus between reproductive ageing and intensity. Other genes implicated by coding variants include PIK3IP1, ZFP82 and LRP4, and our results suggest a new role for the melanocortin 1 receptor (MC1R) in reproductive biology. As NEB is one component of evolutionary fitness, our identified associations indicate loci under present-day natural selection. Integration with data from historical selection scans highlighted an allele in the FADS1/2 gene locus that has been under selection for thousands of years and remains so today. Collectively, our findings demonstrate that a broad range of biological mechanisms contribute to reproductive success.

785,604 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

819971
Total Participants
GWAS
Study Type
Yes
Replicated
34,367 European ancestry women
Replication Participants
European
Ancestry
Switzerland, Iceland, Spain, Netherlands, Sweden, U.S., Denmark, Italy, U.K., Australia, France, Germany, Croatia, Estonia, Finland
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.