EFCAB5 c.1045-12153G>A

Variant ID: 17-28349095-G-A

NM_198529.3(EFCAB5):c.1045-12153G>A

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Mendelian Randomization Studies of Lifestyle-Related Risk Factors for Osteoarthritis: A PRISMA Review and Meta-Analysis.

International Journal Of Molecular Sciences
Ho, Justin J; Mak, Christopher Chi Hang CCH; Sharma, Vivek V; To, Kendrick K; Khan, Wasim W
Publication Date: 2022-10-07

Variant appearance in text: rs9902453
PubMed Link: 36233208
Variant Present in the following documents:
  • ijms-23-11906.pdf
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The association between coffee and caffeine consumption and renal function: insight from individual-level data, Mendelian randomization, and meta-analysis.

Archives Of Medical Science : Ams
Mazidi, Mohsen M; Mikhailidis, Dimitri P DP; Dehghan, Abbas A; Jóźwiak, Jacek J; Covic, Adrian A; Sattar, Naveed N; Banach, Maciej M
Publication Date: 2022

Variant appearance in text: rs9902453
PubMed Link: 35832703
Variant Present in the following documents:
  • AMS-18-4-144905.pdf
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Mendelian randomization study of maternal coffee consumption and its influence on birthweight, stillbirth, miscarriage, gestational age and pre-term birth.

International Journal Of Epidemiology
Brito Nunes, Caroline C; Huang, Peiyuan P; Wang, Geng G; Lundberg, Mischa M; D'Urso, Shannon S; Wootton, Robyn E RE; Borges, Maria Carolina MC; Lawlor, Deborah A DA; Warrington, Nicole M NM; Evans, David M DM; Hwang, Liang-Dar LD; Moen, Gunn-Helen GH
Publication Date: 2022-06-09

Variant appearance in text: rs9902453
PubMed Link: 35679582
Variant Present in the following documents:
  • Main text
  • dyac121.pdf
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Genetically-Guided Medical Nutrition Therapy in Type 2 Diabetes Mellitus and Pre-diabetes: A Series of n-of-1 Superiority Trials.

Frontiers In Nutrition
Gkouskou, Kalliopi K KK; Grammatikopoulou, Maria G MG; Lazou, Evgenia E; Sanoudou, Despina D; Goulis, Dimitrios G DG; Eliopoulos, Aristides G AG
Publication Date: 2022

Variant appearance in text: rs9902453
PubMed Link: 35265654
Variant Present in the following documents:
  • Data_Sheet_2.pdf
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Causal Association of Coffee Consumption and Total, Knee, Hip and Self-Reported Osteoarthritis: A Mendelian Randomization Study.

Frontiers In Endocrinology
Zhang, Yangchang Y; Fan, Jun J; Chen, Li L; Xiong, Yang Y; Wu, Tingting T; Shen, Shisi S; Wang, Xu X; Meng, Xuchen X; Lu, Yanjun Y; Lei, Xun X
Publication Date: 2021

Variant appearance in text: rs9902453
PubMed Link: 34858340
Variant Present in the following documents:
  • Main text
  • fendo-12-768529.pdf
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Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption.

Nature Communications
Karabegović, Irma I; Portilla-Fernandez, Eliana E; Li, Yang Y; Ma, Jiantao J; Maas, Silvana C E SCE; Sun, Daokun D; Hu, Emily A EA; Kühnel, Brigitte B; Zhang, Yan Y; Ambatipudi, Srikant S; Fiorito, Giovanni G; Huang, Jian J; Castillo-Fernandez, Juan E JE; Wiggins, Kerri L KL; de Klein, Niek N; Grioni, Sara S; Swenson, Brenton R BR; Polidoro, Silvia S; Treur, Jorien L JL; Cuenin, Cyrille C; Tsai, Pei-Chien PC; Costeira, Ricardo R; Chajes, Veronique V; Braun, Kim K; Verweij, Niek N; Kretschmer, Anja A; Franke, Lude L; van Meurs, Joyce B J JBJ; Uitterlinden, André G AG; de Knegt, Robert J RJ; Ikram, M Arfan MA; Dehghan, Abbas A; Peters, Annette A; Schöttker, Ben B; Gharib, Sina A SA; Sotoodehnia, Nona N; Bell, Jordana T JT; Elliott, Paul P; Vineis, Paolo P; Relton, Caroline C; Herceg, Zdenko Z; Brenner, Hermann H; Waldenberger, Melanie M; Rebholz, Casey M CM; Voortman, Trudy T; Pan, Qiuwei Q; Fornage, Myriam M; Levy, Daniel D; Kayser, Manfred M; Ghanbari, Mohsen M
Publication Date: 2021-05-14

Variant appearance in text: rs9902453
PubMed Link: 33990564
Variant Present in the following documents:
  • 41467_2021_22752_MOESM1_ESM.pdf
View BVdb publication page



Coffee consumption and risk of breast cancer: A Mendelian randomization study.

Plos One
Ellingjord-Dale, Merete M; Papadimitriou, Nikos N; Katsoulis, Michail M; Yee, Chew C; Dimou, Niki N; Gill, Dipender D; Aune, Dagfinn D; Ong, Jue-Sheng JS; MacGregor, Stuart S; Elsworth, Benjamin B; Lewis, Sarah J SJ; Martin, Richard M RM; Riboli, Elio E; Tsilidis, Konstantinos K KK
Publication Date: 2021

Variant appearance in text: rs9902453
PubMed Link: 33465101
Variant Present in the following documents:
  • Main text
  • pone.0236904.pdf
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A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes.

Bone Research
Christou, Maria A MA; Ntritsos, Georgios G; Markozannes, Georgios G; Koskeridis, Fotis F; Nikas, Spyros N SN; Karasik, David D; Kiel, Douglas P DP; Evangelou, Evangelos E; Ntzani, Evangelia E EE
Publication Date: 2020

Variant appearance in text: rs9902453
PubMed Link: 32637184
Variant Present in the following documents:
  • Main text
  • 41413_2020_Article_101.pdf
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Genetic determinants of beverage consumption: Implications for nutrition and health.

Advances In Food And Nutrition Research
Cornelis, Marilyn C MC
Publication Date: 2019

Variant appearance in text: rs9902453
PubMed Link: 31351524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of Genetic Variability on Physiological Responses to Caffeine in Humans: A Systematic Review.

Nutrients
Fulton, Jacob L JL; Dinas, Petros C PC; Carrillo, Andres E AE; Edsall, Jason R JR; Ryan, Emily J EJ; Ryan, Edward J EJ
Publication Date: 2018-09-25

Variant appearance in text: rs9902453
PubMed Link: 30257492
Variant Present in the following documents:
  • Main text
  • nutrients-10-01373.pdf
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Mendelian Randomization Studies of Coffee and Caffeine Consumption.

Nutrients
Cornelis, Marilyn C MC; Munafo, Marcus R MR
Publication Date: 2018-09-20

Variant appearance in text: rs9902453
PubMed Link: 30241358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes.

Genes
Dolgova, Olga O; Lao, Oscar O
Publication Date: 2018-07-18

Variant appearance in text: rs9902453
PubMed Link: 30022013
Variant Present in the following documents:
  • genes-09-00358-s001.xlsx, sheet 1
View BVdb publication page



Habitual coffee consumption and cognitive function: a Mendelian randomization meta-analysis in up to 415,530 participants.

Scientific Reports
Zhou, Ang A; Taylor, Amy E AE; Karhunen, Ville V; Zhan, Yiqiang Y; Rovio, Suvi P SP; Lahti, Jari J; Sjögren, Per P; Byberg, Liisa L; Lyall, Donald M DM; Auvinen, Juha J; Lehtimäki, Terho T; Kähönen, Mika M; Hutri-Kähönen, Nina N; Perälä, Mia Maria MM; Michaëlsson, Karl K; Mahajan, Anubha A; Lind, Lars L; Power, Chris C; Eriksson, Johan G JG; Raitakari, Olli T OT; Hägg, Sara S; Pedersen, Nancy L NL; Veijola, Juha J; Järvelin, Marjo-Riitta MR; Munafò, Marcus R MR; Ingelsson, Erik E; Llewellyn, David J DJ; Hyppönen, Elina E
Publication Date: 2018-05-14

Variant appearance in text: rs9902453
PubMed Link: 29760501
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_25919.pdf
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A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.

Scientific Reports
Nakagawa-Senda, Hiroko H; Hachiya, Tsuyoshi T; Shimizu, Atsushi A; Hosono, Satoyo S; Oze, Isao I; Watanabe, Miki M; Matsuo, Keitaro K; Ito, Hidemi H; Hara, Megumi M; Nishida, Yuichiro Y; Endoh, Kaori K; Kuriki, Kiyonori K; Katsuura-Kamano, Sakurako S; Arisawa, Kokichi K; Nindita, Yora Y; Ibusuki, Rie R; Suzuki, Sadao S; Hosono, Akihiro A; Mikami, Haruo H; Nakamura, Yohko Y; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Kuriyama, Nagato N; Ozaki, Etsuko E; Furusyo, Norihiro N; Ikezaki, Hiroaki H; Nakatochi, Masahiro M; Sasakabe, Tae T; Kawai, Sayo S; Okada, Rieko R; Hishida, Asahi A; Naito, Mariko M; Wakai, Kenji K; Momozawa, Yukihide Y; Kubo, Michiaki M; Tanaka, Hideo H
Publication Date: 2018-01-24

Variant appearance in text: rs9902453
PubMed Link: 29367735
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_19914.pdf
View BVdb publication page



Modifiable pathways in Alzheimer's disease: Mendelian randomisation analysis.

Bmj (Clinical Research Ed.)
Larsson, Susanna C SC; Traylor, Matthew M; Malik, Rainer R; Dichgans, Martin M; Burgess, Stephen S; Markus, Hugh S HS; ,
Publication Date: 2017-12-06

Variant appearance in text: rs9902453
PubMed Link: 29212772
Variant Present in the following documents:
  • lars039122.ww1.pdf
View BVdb publication page



Genetic variation of habitual coffee consumption and glycemic changes in response to weight-loss diet intervention: the Preventing Overweight Using Novel Dietary Strategies (POUNDS LOST) trial.

The American Journal Of Clinical Nutrition
Han, Liyuan L; Ma, Wenjie W; Sun, Dianjianyi D; Heianza, Yoriko Y; Wang, Tiange T; Zheng, Yan Y; Huang, Tao T; Duan, Donghui D; Bray, J George A JGA; Champagne, Catherine M CM; Sacks, Frank M FM; Qi, Lu L
Publication Date: 2017-11

Variant appearance in text: rs9902453
PubMed Link: 28931532
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of coffee genetic risk scores with consumption of coffee, tea and other beverages in the UK Biobank.

Addiction (Abingdon, England)
Taylor, Amy E AE; Davey Smith, George G; Munafò, Marcus R MR
Publication Date: 2018-01

Variant appearance in text: rs9902453
PubMed Link: 28793181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Does coffee consumption impact on heaviness of smoking?

Addiction (Abingdon, England)
Ware, Jennifer J JJ; Tanner, Julie-Anne JA; Taylor, Amy E AE; Bin, Zhao Z; Haycock, Philip P; Bowden, Jack J; Rogers, Peter J PJ; Davey Smith, George G; Tyndale, Rachel F RF; Munafò, Marcus R MR
Publication Date: 2017-10

Variant appearance in text: rs9902453
PubMed Link: 28556459
Variant Present in the following documents:
  • Main text
  • ADD-112-1842.pdf
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Habitual coffee consumption and risk of type 2 diabetes, ischemic heart disease, depression and Alzheimer's disease: a Mendelian randomization study.

Scientific Reports
Kwok, Man Ki MK; Leung, Gabriel M GM; Schooling, C Mary CM
Publication Date: 2016-11-15

Variant appearance in text: rs9902453
PubMed Link: 27845333
Variant Present in the following documents:
  • Main text
  • srep36500.pdf
View BVdb publication page



Smoking and caffeine consumption: a genetic analysis of their association.

Addiction Biology
Treur, Jorien L JL; Taylor, Amy E AE; Ware, Jennifer J JJ; Nivard, Michel G MG; Neale, Michael C MC; McMahon, George G; Hottenga, Jouke-Jan JJ; Baselmans, Bart M L BML; Boomsma, Dorret I DI; Munafò, Marcus R MR; Vink, Jacqueline M JM
Publication Date: 2017-07

Variant appearance in text: rs9902453
PubMed Link: 27027469
Variant Present in the following documents:
  • Main text
  • ADB-22-1090.pdf
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.

Molecular Psychiatry
, ; Cornelis, Marilyn C MC; Byrne, Enda M EM; Esko, Tõnu T; Nalls, Michael A MA; Ganna, Andrea A; Paynter, Nina N; Monda, Keri L KL; Amin, Najaf N; Fischer, Krista K; Renstrom, Frida F; Ngwa, Julius S JS; Huikari, Ville V; Cavadino, Alana A; Nolte, Ilja M IM; Teumer, Alexander A; Yu, Kai K; Marques-Vidal, Pedro P; Rawal, Rajesh R; Manichaikul, Ani A; Wojczynski, Mary K MK; Vink, Jacqueline M JM; Zhao, Jing Hua JH; Burlutsky, George G; Lahti, Jari J; Mikkilä, Vera V; Lemaitre, Rozenn N RN; Eriksson, Joel J; Musani, Solomon K SK; Tanaka, Toshiko T; Geller, Frank F; Luan, Jian'an J; Hui, Jennie J; Mägi, Reedik R; Dimitriou, Maria M; Garcia, Melissa E ME; Ho, Weang-Kee WK; Wright, Margaret J MJ; Rose, Lynda M LM; Magnusson, Patrik Ke PK; Pedersen, Nancy L NL; Couper, David D; Oostra, Ben A BA; Hofman, Albert A; Ikram, Mohammad Arfan MA; Tiemeier, Henning W HW; Uitterlinden, Andre G AG; van Rooij, Frank Ja FJ; Barroso, Inês I; Johansson, Ingegerd I; Xue, Luting L; Kaakinen, Marika M; Milani, Lili L; Power, Chris C; Snieder, Harold H; Stolk, Ronald P RP; Baumeister, Sebastian E SE; Biffar, Reiner R; Gu, Fangyi F; Bastardot, François F; Kutalik, Zoltán Z; Jacobs, David R DR; Forouhi, Nita G NG; Mihailov, Evelin E; Lind, Lars L; Lindgren, Cecilia C; Michaëlsson, Karl K; Morris, Andrew A; Jensen, Majken M; Khaw, Kay-Tee KT; Luben, Robert N RN; Wang, Jie Jin JJ; Männistö, Satu S; Perälä, Mia-Maria MM; Kähönen, Mika M; Lehtimäki, Terho T; Viikari, Jorma J; Mozaffarian, Dariush D; Mukamal, Kenneth K; Psaty, Bruce M BM; Döring, Angela A; Heath, Andrew C AC; Montgomery, Grant W GW; Dahmen, Norbert N; Carithers, Teresa T; Tucker, Katherine L KL; Ferrucci, Luigi L; Boyd, Heather A HA; Melbye, Mads M; Treur, Jorien L JL; Mellström, Dan D; Hottenga, Jouke Jan JJ; Prokopenko, Inga I; Tönjes, Anke A; Deloukas, Panos P; Kanoni, Stavroula S; Lorentzon, Mattias M; Houston, Denise K DK; Liu, Yongmei Y; Danesh, John J; Rasheed, Asif A; Mason, Marc A MA; Zonderman, Alan B AB; Franke, Lude L; Kristal, Bruce S BS; , ; , ; , ; Karjalainen, Juha J; Reed, Danielle R DR; Westra, Harm-Jan HJ; Evans, Michele K MK; Saleheen, Danish D; Harris, Tamara B TB; Dedoussis, George G; Curhan, Gary G; Stumvoll, Michael M; Beilby, John J; Pasquale, Louis R LR; Feenstra, Bjarke B; Bandinelli, Stefania S; Ordovas, Jose M JM; Chan, Andrew T AT; Peters, Ulrike U; Ohlsson, Claes C; Gieger, Christian C; Martin, Nicholas G NG; Waldenberger, Melanie M; Siscovick, David S DS; Raitakari, Olli O; Eriksson, Johan G JG; Mitchell, Paul P; Hunter, David J DJ; Kraft, Peter P; Rimm, Eric B EB; Boomsma, Dorret I DI; Borecki, Ingrid B IB; Loos, Ruth Jf RJ; Wareham, Nicholas J NJ; Vollenweider, Peter P; Caporaso, Neil N; Grabe, Hans Jörgen HJ; Neuhouser, Marian L ML; Wolffenbuttel, Bruce Hr BH; Hu, Frank B FB; Hyppönen, Elina E; Järvelin, Marjo-Riitta MR; Cupples, L Adrienne LA; Franks, Paul W PW; Ridker, Paul M PM; van Duijn, Cornelia M CM; Heiss, Gerardo G; Metspalu, Andres A; North, Kari E KE; Ingelsson, Erik E; Nettleton, Jennifer A JA; van Dam, Rob M RM; Chasman, Daniel I DI
Publication Date: 2015-05

Variant appearance in text: rs9902453
PubMed Link: 25288136
Variant Present in the following documents:
  • Main text
View BVdb publication page