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GWAS Study

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.

Cornelis MC, Byrne EM, Esko T et al.

25288136 PubMed ID
GWAS Study Type
129488 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

CM
Cornelis MC
BE
Byrne EM
ET
Esko T
NM
Nalls MA
GA
Ganna A
PN
Paynter N
MK
Monda KL
AN
Amin N
FK
Fischer K
RF
Renstrom F
NJ
Ngwa JS
HV
Huikari V
CA
Cavadino A
NI
Nolte IM
TA
Teumer A
YK
Yu K
MP
Marques-Vidal P
RR
Rawal R
MA
Manichaikul A
WM
Wojczynski MK
VJ
Vink JM
ZJ
Zhao JH
BG
Burlutsky G
LJ
Lahti J
MV
Mikkilä V
LR
Lemaitre RN
EJ
Eriksson J
MS
Musani SK
TT
Tanaka T
GF
Geller F
LJ
Luan J
HJ
Hui J
MR
Mägi R
DM
Dimitriou M
GM
Garcia ME
HW
Ho WK
WM
Wright MJ
RL
Rose LM
MP
Magnusson PK
PN
Pedersen NL
CD
Couper D
OB
Oostra BA
HA
Hofman A
IM
Ikram MA
TH
Tiemeier HW
UA
Uitterlinden AG
VR
van Rooij FJ
BI
Barroso I
JI
Johansson I
XL
Xue L
KM
Kaakinen M
ML
Milani L
PC
Power C
SH
Snieder H
SR
Stolk RP
BS
Baumeister SE
BR
Biffar R
GF
Gu F
BF
Bastardot F
KZ
Kutalik Z
JD
Jacobs DR
FN
Forouhi NG
ME
Mihailov E
LL
Lind L
LC
Lindgren C
MK
Michaëlsson K
MA
Morris A
JM
Jensen M
KK
Khaw KT
LR
Luben RN
WJ
Wang JJ
MS
Männistö S
PM
Perälä MM
KM
Kähönen M
LT
Lehtimäki T
VJ
Viikari J
MD
Mozaffarian D
MK
Mukamal K
PB
Psaty BM
DA
Döring A
HA
Heath AC
MG
Montgomery GW
DN
Dahmen N
CT
Carithers T
TK
Tucker KL
FL
Ferrucci L
BH
Boyd HA
MM
Melbye M
TJ
Treur JL
MD
Mellström D
HJ
Hottenga JJ
PI
Prokopenko I
TA
Tönjes A
DP
Deloukas P
KS
Kanoni S
LM
Lorentzon M
HD
Houston DK
LY
Liu Y
DJ
Danesh J
RA
Rasheed A
MM
Mason MA
ZA
Zonderman AB
FL
Franke L
KB
Kristal BS
KJ
Karjalainen J
RD
Reed DR
WH
Westra HJ
EM
Evans MK
SD
Saleheen D
HT
Harris TB
DG
Dedoussis G
CG
Curhan G
SM
Stumvoll M
BJ
Beilby J
PL
Pasquale LR
FB
Feenstra B
BS
Bandinelli S
OJ
Ordovas JM
CA
Chan AT
PU
Peters U
OC
Ohlsson C
GC
Gieger C
MN
Martin NG
WM
Waldenberger M
SD
Siscovick DS
RO
Raitakari O
EJ
Eriksson JG
MP
Mitchell P
HD
Hunter DJ
KP
Kraft P
RE
Rimm EB
BD
Boomsma DI
BI
Borecki IB
LR
Loos RJ
WN
Wareham NJ
VP
Vollenweider P
CN
Caporaso N
GH
Grabe HJ
NM
Neuhouser ML
WB
Wolffenbuttel BH
HF
Hu FB
HE
Hyppönen E
JM
Järvelin MR
CL
Cupples LA
FP
Franks PW
RP
Ridker PM
VD
van Duijn CM
HG
Heiss G
MA
Metspalu A
NK
North KE
IE
Ingelsson E
NJ
Nettleton JA
VD
van Dam RM
CD
Chasman DI
Chapter II

Abstract

Summary of the research findings

Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03-0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P<5 × 10(-8)).Our genetic findings among European and African-American adults reinforce the role of caffeine in mediating habitual coffee consumption and may point to molecular mechanisms underlying inter-individual variability in pharmacological and health effects of coffee.

91,462 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

129488
Total Participants
GWAS
Study Type
Yes
Replicated
30,062 European ancestry individuals, 7,964 African American individuals
Replication Participants
African American or Afro-Caribbean, European
Ancestry
U.S., Finland, Sweden, Australia, Italy, Netherlands, Greece, Germany, U.K., Switzerland, Estonia, Denmark
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.