ADH1B c.143A>G ;(p.H48R)

Variant ID: 4-100239319-T-C

NM_000668.4(ADH1B):c.143A>G;(p.H48R)

This variant was identified in 517 publications

View GRCh38 version.




Publications:


Editorial: Personalized medicine and infectious disease management.

Frontiers In Medicine
Haddad-Boubaker, Sondes S; Mbarek, Hamdi H; Yassine, Hadi M HM
Publication Date: 2023

Variant appearance in text: rs1229984
PubMed Link: 37250651
Variant Present in the following documents:
  • Main text
  • fmed-10-1191147.pdf
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Patients with Non-Alcoholic Fatty Liver Disease and Alcohol Dehydrogenase 1B/Aldehyde Dehydrogenase 2 Mutant Gene Have Higher Values of Serum Alanine Transaminase.

Journal Of Personalized Medicine
Chien, Tsuo-Hsuan TH; Lin, Chih-Lang CL; Chen, Li-Wei LW; Chien, Cheng-Hung CH; Hu, Ching-Chih CC
Publication Date: 2023-04-28

Variant appearance in text: rs1229984
PubMed Link: 37240928
Variant Present in the following documents:
  • Main text
  • jpm-13-00758.pdf
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Simultaneous selection of multiple important single nucleotide polymorphisms in familial genome wide association studies data.

Scientific Reports
Majumdar, Subhabrata S; Basu, Saonli S; McGue, Matt M; Chatterjee, Snigdhansu S
Publication Date: 2023-05-25

Variant appearance in text: rs1229984
PubMed Link: 37231056
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_35379.pdf
  • 41598_2023_35379_MOESM1_ESM.pdf
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Alcohol and the vasculature: a love-hate relationship?

Pflugers Archiv : European Journal Of Physiology
Li, Huige H; Xia, Ning N
Publication Date: 2023-05-11

Variant appearance in text: rs1229984
PubMed Link: 37165232
Variant Present in the following documents:
  • Main text
  • 424_2023_Article_2818.pdf
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ALDH2 rs671 variant allele is associated with higher energy intake in middle-aged and elderly Japanese who routinely consume alcohol.

Environmental Health And Preventive Medicine
Hayashida, Hiroyuki H; Matsumoto, Akiko A; Nanri, Hinako H; Nishida, Yuichiro Y; Takagi, Yusuke Y; Hara, Megumi M
Publication Date: 2023

Variant appearance in text: rs1229984
PubMed Link: 37164758
Variant Present in the following documents:
  • Main text
  • ehpm-28-029.pdf
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Multi-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program.

Translational Psychiatry
Cheng, Youshu Y; Dao, Cecilia C; Zhou, Hang H; Li, Boyang B; Kember, Rachel L RL; Toikumo, Sylvanus S; Zhao, Hongyu H; Gelernter, Joel J; Kranzler, Henry R HR; Justice, Amy C AC; Xu, Ke K
Publication Date: 2023-05-05

Variant appearance in text: rs1229984
PubMed Link: 37147289
Variant Present in the following documents:
  • Main text
  • 41398_2023_Article_2409.pdf
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Case-only exome variation analysis of severe alcohol dependence using a multivariate hierarchical gene clustering approach.

Plos One
Gentry, Amanda Elswick AE; Alexander, Jeffry C JC; Ahangari, Mohammad M; Peterson, Roseann E RE; Miles, Michael F MF; Bettinger, Jill C JC; Davies, Andrew G AG; Groteweil, Mike M; Bacanu, Silviu A SA; Kendler, Kenneth S KS; Riley, Brien P BP; Webb, Bradley T BT; ,
Publication Date: 2023

Variant appearance in text: rs1229984
PubMed Link: 37098020
Variant Present in the following documents:
  • Main text
  • pone.0283985.pdf
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Multivariate Genome-wide Association Analysis by Iterative Hard Thresholding.

Bioinformatics (Oxford, England)
Chu, Benjamin B BB; Ko, Seyoon S; Zhou, Jin J JJ; Jensen, Aubrey A; Zhou, Hua H; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2023-04-17

Variant appearance in text: rs1229984
PubMed Link: 37067496
Variant Present in the following documents:
  • btad193_supplementary_data.pdf
View BVdb publication page



The Promise of an Evolutionary Perspective of Alcohol Consumption.

Neuroscience Insights
Clites, Benjamin L BL; Hofmann, Hans A HA; Pierce, Jonathan T JT
Publication Date: 2023

Variant appearance in text: rs1229984
PubMed Link: 37051560
Variant Present in the following documents:
  • Main text
  • 10.1177_26331055231163589.pdf
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A Dose-Dependent Association between Alcohol Consumption and Incidence of Proteinuria and Low Glomerular Filtration Rate: A Systematic Review and Meta-Analysis of Cohort Studies.

Nutrients
Yamamoto, Ryohei R; Li, Qinyan Q; Otsuki, Naoko N; Shinzawa, Maki M; Yamaguchi, Makoto M; Wakasugi, Minako M; Nagasawa, Yasuyuki Y; Isaka, Yoshitaka Y
Publication Date: 2023-03-25

Variant appearance in text: rs1229984
PubMed Link: 37049433
Variant Present in the following documents:
  • Main text
  • nutrients-15-01592.pdf
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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ADH1B: H48R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 5
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
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Taste Preference-Related Genetic Polymorphisms Modify Alcohol Consumption Behavior of the Hungarian General and Roma Populations.

Genes
Kurshed, Ali Abbas Mohammad AAM; Vincze, Ferenc F; Pikó, Péter P; Kósa, Zsigmond Z; Sándor, János J; Ádány, Róza R; Diószegi, Judit J
Publication Date: 2023-03-07

Variant appearance in text: rs1229984
PubMed Link: 36980937
Variant Present in the following documents:
  • Main text
  • genes-14-00666.pdf
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Low to Moderate Prenatal Alcohol Exposure and Neurodevelopmental Outcomes: A Narrative Review and Methodological Considerations.

Alcohol Research : Current Reviews
Bandoli, Gretchen G; Hayes, Shana S; Delker, Erin E
Publication Date: 2023

Variant appearance in text: rs1229984
PubMed Link: 36950180
Variant Present in the following documents:
  • Main text
  • arcr-43-1-1.pdf
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Human genetic history on the Tibetan Plateau in the past 5100 years.

Science Advances
Wang, Hongru H; Yang, Melinda A MA; Wangdue, Shargan S; Lu, Hongliang H; Chen, Honghai H; Li, Linhui L; Dong, Guanghui G; Tsring, Tinley T; Yuan, Haibing H; He, Wei W; Ding, Manyu M; Wu, Xiaohong X; Li, Shuai S; Tashi, Norbu N; Yang, Tsho T; Yang, Feng F; Tong, Yan Y; Chen, Zujun Z; He, Yuanhong Y; Cao, Peng P; Dai, Qingyan Q; Liu, Feng F; Feng, Xiaotian X; Wang, Tianyi T; Yang, Ruowei R; Ping, Wanjing W; Zhang, Zhaoxia Z; Gao, Yang Y; Zhang, Ming M; Wang, Xiaoji X; Zhang, Chao C; Yuan, Kai K; Ko, Albert Min-Shan AM; Aldenderfer, Mark M; Gao, Xing X; Xu, Shuhua S; Fu, Qiaomei Q
Publication Date: 2023-03-15

Variant appearance in text: rs1229984
PubMed Link: 36930720
Variant Present in the following documents:
  • sciadv.add5582_sm.pdf
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Efficacy of Low-Dose Aspirin in Colorectal Cancer Risk Prevention is Dependent on ADH1B and ALDH2 Genotype in Japanese Familial Adenomatous Polyposis Patients.

Cancer Research Communications
Mure, Kanae K; Ishikawa, Hideki H; Mutoh, Michihiro M; Horinaka, Mano M; Otani, Takahiro T; Suzuki, Sadao S; Wakabayashi, Keiji K; Sakai, Toshiyuki T; ,
Publication Date: 2022-06

Variant appearance in text: rs1229984
PubMed Link: 36923554
Variant Present in the following documents:
  • Main text
  • crc-22-0088.pdf
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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: ADH1B: 143A>G; His48Arg
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Risk factors and consequences of depression in later life: Findings from the health in men study (HIMS).

Aging Brain
Almeida, Osvaldo P OP
Publication Date: 2021

Variant appearance in text: rs1229984
PubMed Link: 36911509
Variant Present in the following documents:
  • Main text
  • main.pdf
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Causal factors underlying diabetes risk informed by Mendelian randomisation analysis: evidence, opportunities and challenges.

Diabetologia
Yuan, Shuai S; Merino, Jordi J; Larsson, Susanna C SC
Publication Date: 2023-02-14

Variant appearance in text: rs1229984
PubMed Link: 36786839
Variant Present in the following documents:
  • Main text
  • 125_2023_Article_5879.pdf
View BVdb publication page



Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China.

Human Genomics
Wang, Jiawen J; Yang, Lin L; Duan, Shuhan S; Sun, Qiuxia Q; Li, Youjing Y; Wu, Jun J; Wu, Wenxin W; Wang, Zheng Z; Liu, Yan Y; Tang, Renkuan R; Yang, Junbao J; Liu, Chao C; Yuan, Buhong B; Wang, Daoyong D; Xu, Jianwei J; Wang, Mengge M; He, Guanglin G
Publication Date: 2023-01-31

Variant appearance in text: rs1229984
PubMed Link: 36721228
Variant Present in the following documents:
  • Main text
  • 40246_2023_Article_452.pdf
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Aldehyde dehydrogenase in solid tumors and other diseases: Potential biomarkers and therapeutic targets.

Medcomm
Xia, Jie J; Li, Siqin S; Liu, Suling S; Zhang, Lixing L
Publication Date: 2023-02

Variant appearance in text: rs1229984
PubMed Link: 36694633
Variant Present in the following documents:
  • MCO2-4-e195.pdf
View BVdb publication page



Contribution of Genetic Polymorphisms in Human Health.

International Journal Of Environmental Research And Public Health
Chiarella, Pieranna P; Capone, Pasquale P; Sisto, Renata R
Publication Date: 2023-01-04

Variant appearance in text: rs1229984
PubMed Link: 36673670
Variant Present in the following documents:
  • Main text
  • ijerph-20-00912.pdf
View BVdb publication page



Evaluating and forecasting the associated main flavor components in Baijiu (Chinese distilled spirits) with alcohol metabolism and hangover symptoms through mice acute withdrawal model.

Food Science & Nutrition
Huangfu, Jie J; Lu, Jun J; Li, Changwen C; Wang, Deliang D; Luan, Chunguang C; Jiang, Xin X; Song, Tao T; Jiang, Wei W; Han, Xinlin X; Feng, Jing J; Liu, Yanli Y; He, Mengchao M
Publication Date: 2023-01

Variant appearance in text: rs1229984
PubMed Link: 36655102
Variant Present in the following documents:
  • Main text
  • FSN3-11-334.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: ADH1B: H48R; rs1229984
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Genome Biology
Kanoni, Stavroula S; Graham, Sarah E SE; Wang, Yuxuan Y; Surakka, Ida I; Ramdas, Shweta S; Zhu, Xiang X; Clarke, Shoa L SL; Bhatti, Konain Fatima KF; Vedantam, Sailaja S; Winkler, Thomas W TW; Locke, Adam E AE; Marouli, Eirini E; Zajac, Greg J M GJM; Wu, Kuan-Han H KH; Ntalla, Ioanna I; Hui, Qin Q; Klarin, Derek D; Hilliard, Austin T AT; Wang, Zeyuan Z; Xue, Chao C; Thorleifsson, Gudmar G; Helgadottir, Anna A; Gudbjartsson, Daniel F DF; Holm, Hilma H; Olafsson, Isleifur I; Hwang, Mi Yeong MY; Han, Sohee S; Akiyama, Masato M; Sakaue, Saori S; Terao, Chikashi C; Kanai, Masahiro M; Zhou, Wei W; Brumpton, Ben M BM; Rasheed, Humaira H; Havulinna, Aki S AS; Veturi, Yogasudha Y; Pacheco, Jennifer Allen JA; Rosenthal, Elisabeth A EA; Lingren, Todd T; Feng, QiPing Q; Kullo, Iftikhar J IJ; Narita, Akira A; Takayama, Jun J; Martin, Hilary C HC; Hunt, Karen A KA; Trivedi, Bhavi B; Haessler, Jeffrey J; Giulianini, Franco F; Bradford, Yuki Y; Miller, Jason E JE; Campbell, Archie A; Lin, Kuang K; Millwood, Iona Y IY; Rasheed, Asif A; Hindy, George G; Faul, Jessica D JD; Zhao, Wei W; Weir, David R DR; Turman, Constance C; Huang, Hongyan H; Graff, Mariaelisa M; Choudhury, Ananyo A; Sengupta, Dhriti D; Mahajan, Anubha A; Brown, Michael R MR; Zhang, Weihua W; Yu, Ketian K; Schmidt, Ellen M EM; Pandit, Anita A; Gustafsson, Stefan S; Yin, Xianyong X; Luan, Jian'an J; Zhao, Jing-Hua JH; Matsuda, Fumihiko F; Jang, Hye-Mi HM; Yoon, Kyungheon K; Medina-Gomez, Carolina C; Pitsillides, Achilleas A; Hottenga, Jouke Jan JJ; Wood, Andrew R AR; Ji, Yingji Y; Gao, Zishan Z; Haworth, Simon S; Yousri, Noha A NA; Mitchell, Ruth E RE; Chai, Jin Fang JF; Aadahl, Mette M; Bjerregaard, Anne A AA; Yao, Jie J; Manichaikul, Ani A; Hwu, Chii-Min CM; Hung, Yi-Jen YJ; Warren, Helen R HR; Ramirez, Julia J; Bork-Jensen, Jette J; Kårhus, Line L LL; Goel, Anuj A; Sabater-Lleal, Maria M; Noordam, Raymond R; Mauro, Pala P; Matteo, Floris F; McDaid, Aaron F AF; Marques-Vidal, Pedro P; Wielscher, Matthias M; Trompet, Stella S; Sattar, Naveed N; Møllehave, Line T LT; Munz, Matthias M; Zeng, Lingyao L; Huang, Jianfeng J; Yang, Bin B; Poveda, Alaitz A; Kurbasic, Azra A; Lamina, Claudia C; Forer, Lukas L; Scholz, Markus M; Galesloot, Tessel E TE; Bradfield, Jonathan P JP; Ruotsalainen, Sanni E SE; Daw, EWarwick E; Zmuda, Joseph M JM; Mitchell, Jonathan S JS; Fuchsberger, Christian C; Christensen, Henry H; Brody, Jennifer A JA; Vazquez-Moreno, Miguel M; Feitosa, Mary F MF; Wojczynski, Mary K MK; Wang, Zhe Z; Preuss, Michael H MH; Mangino, Massimo M; Christofidou, Paraskevi P; Verweij, Niek N; Benjamins, Jan W JW; Engmann, Jorgen J; Tsao, Noah L NL; Verma, Anurag A; Slieker, Roderick C RC; Lo, Ken Sin KS; Zilhao, Nuno R NR; Le, Phuong P; Kleber, Marcus E ME; Delgado, Graciela E GE; Huo, Shaofeng S; Ikeda, Daisuke D DD; Iha, Hiroyuki H; Yang, Jian J; Liu, Jun J; Demirkan, Ayşe A; Leonard, Hampton L HL; Marten, Jonathan J; Frank, Mirjam M; Schmidt, Börge B; Smyth, Laura J LJ; Cañadas-Garre, Marisa M; Wang, Chaolong C; Nakatochi, Masahiro M; Wong, Andrew A; Hutri-Kähönen, Nina N; Sim, Xueling X; Xia, Rui R; Huerta-Chagoya, Alicia A; Fernandez-Lopez, Juan Carlos JC; Lyssenko, Valeriya V; Nongmaithem, Suraj S SS; Bayyana, Swati S; Stringham, Heather M HM; Irvin, Marguerite R MR; Oldmeadow, Christopher C; Kim, Han-Na HN; Ryu, Seungho S; Timmers, Paul R H J PRHJ; Arbeeva, Liubov L; Dorajoo, Rajkumar R; Lange, Leslie A LA; Prasad, Gauri G; Lorés-Motta, Laura L; Pauper, Marc M; Long, Jirong J; Li, Xiaohui X; Theusch, Elizabeth E; Takeuchi, Fumihiko F; Spracklen, Cassandra N CN; Loukola, Anu A; Bollepalli, Sailalitha S; Warner, Sophie C SC; Wang, Ya Xing YX; Wei, Wen B WB; Nutile, Teresa T; Ruggiero, Daniela D; Sung, Yun Ju YJ; Chen, Shufeng S; Liu, Fangchao F; Yang, Jingyun J; Kentistou, Katherine A KA; Banas, Bernhard B; Nardone, Giuseppe Giovanni GG; Meidtner, Karina K; Bielak, Lawrence F LF; Smith, Jennifer A JA; Hebbar, Prashantha P; Farmaki, Aliki-Eleni AE; Hofer, Edith E; Lin, Maoxuan M; Concas, Maria Pina MP; Vaccargiu, Simona S; van der Most, Peter J PJ; Pitkänen, Niina N; Cade, Brian E BE; van der Laan, Sander W SW; Chitrala, Kumaraswamy Naidu KN; Weiss, Stefan S; Bentley, Amy R AR; Doumatey, Ayo P AP; Adeyemo, Adebowale A AA; Lee, Jong Young JY; Petersen, Eva R B ERB; Nielsen, Aneta A AA; Choi, Hyeok Sun HS; Nethander, Maria M; Freitag-Wolf, Sandra S; Southam, Lorraine L; Rayner, Nigel W NW; Wang, Carol A CA; Lin, Shih-Yi SY; Wang, Jun-Sing JS; Couture, Christian C; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Cuellar-Partida, Gabriel G; Vestergaard, Henrik H; Hidalgo, Bertha B; Giannakopoulou, Olga O; Cai, Qiuyin Q; Obura, Morgan O MO; van Setten, Jessica J; Li, Xiaoyin X; Liang, Jingjing J; Tang, Hua H; Terzikhan, Natalie N; Shin, Jae Hun JH; Jackson, Rebecca D RD; Reiner, Alexander P AP; Martin, Lisa Warsinger LW; Chen, Zhengming Z; Li, Liming L; Kawaguchi, Takahisa T; Thiery, Joachim J; Bis, Joshua C JC; Launer, Lenore J LJ; Li, Huaixing H; Nalls, Mike A MA; Raitakari, Olli T OT; Ichihara, Sahoko S; Wild, Sarah H SH; Nelson, Christopher P CP; Campbell, Harry H; Jäger, Susanne S; Nabika, Toru T; Al-Mulla, Fahd F; Niinikoski, Harri H; Braund, Peter S PS; Kolcic, Ivana I; Kovacs, Peter P; Giardoglou, Tota T; Katsuya, Tomohiro T; de Kleijn, Dominique D; de Borst, Gert J GJ; Kim, Eung Kweon EK; Adams, Hieab H H HHH; Ikram, M Arfan MA; Zhu, Xiaofeng X; Asselbergs, Folkert W FW; Kraaijeveld, Adriaan O AO; Beulens, Joline W J JWJ; Shu, Xiao-Ou XO; Rallidis, Loukianos S LS; Pedersen, Oluf O; Hansen, Torben T; Mitchell, Paul P; Hewitt, Alex W AW; Kähönen, Mika M; Pérusse, Louis L; Bouchard, Claude C; Tönjes, Anke A; Chen, Yii-Der Ida YI; Pennell, Craig E CE; Mori, Trevor A TA; Lieb, Wolfgang W; Franke, Andre A; Ohlsson, Claes C; Mellström, Dan D; Cho, Yoon Shin YS; Lee, Hyejin H; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Rhee, Sang Youl SY; Woo, Jeong-Taek JT; Heid, Iris M IM; Stark, Klaus J KJ; Zimmermann, Martina E ME; Völzke, Henry H; Homuth, Georg G; Evans, Michele K MK; Zonderman, Alan B AB; Polasek, Ozren O; Pasterkamp, Gerard G; Hoefer, Imo E IE; Redline, Susan S; Pahkala, Katja K; Oldehinkel, Albertine J AJ; Snieder, Harold H; Biino, Ginevra G; Schmidt, Reinhold R; Schmidt, Helena H; Bandinelli, Stefania S; Dedoussis, George G; Thanaraj, Thangavel Alphonse TA; Kardia, Sharon L R SLR; Peyser, Patricia A PA; Kato, Norihiro N; Schulze, Matthias B MB; Girotto, Giorgia G; Böger, Carsten A CA; Jung, Bettina B; Joshi, Peter K PK; Bennett, David A DA; De Jager, Philip L PL; Lu, Xiangfeng X; Mamakou, Vasiliki V; Brown, Morris M; Caulfield, Mark J MJ; Munroe, Patricia B PB; Guo, Xiuqing X; Ciullo, Marina M; Jonas, Jost B JB; Samani, Nilesh J NJ; Kaprio, Jaakko J; Pajukanta, Päivi P; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Adair, Linda S LS; Bechayda, Sonny Augustin SA; de Silva, H Janaka HJ; Wickremasinghe, Ananda R AR; Krauss, Ronald M RM; Wu, Jer-Yuarn JY; Zheng, Wei W; Hollander, Anneke Iden AI; Bharadwaj, Dwaipayan D; Correa, Adolfo A; Wilson, James G JG; Lind, Lars L; Heng, Chew-Kiat CK; Nelson, Amanda E AE; Golightly, Yvonne M YM; Wilson, James F JF; Penninx, Brenda B; Kim, Hyung-Lae HL; Attia, John J; Scott, Rodney J RJ; Rao, D C DC; Arnett, Donna K DK; Hunt, Steven C SC; Walker, Mark M; Koistinen, Heikki A HA; Chandak, Giriraj R GR; Mercader, Josep M JM; Costanzo, Maria C MC; Jang, Dongkeun D; Burtt, Noël P NP; Villalpando, Clicerio Gonzalez CG; Orozco, Lorena L; Fornage, Myriam M; Tai, EShyong E; van Dam, Rob M RM; Lehtimäki, Terho T; Chaturvedi, Nish N; Yokota, Mitsuhiro M; Liu, Jianjun J; Reilly, Dermot F DF; McKnight, Amy Jayne AJ; Kee, Frank F; Jöckel, Karl-Heinz KH; McCarthy, Mark I MI; Palmer, Colin N A CNA; Vitart, Veronique V; Hayward, Caroline C; Simonsick, Eleanor E; van Duijn, Cornelia M CM; Jin, Zi-Bing ZB; Qu, Jia J; Hishigaki, Haretsugu H; Lin, Xu X; März, Winfried W; Gudnason, Vilmundur V; Tardif, Jean-Claude JC; Lettre, Guillaume G; Hart, Leen M 't LM'; Elders, Petra J M PJM; Damrauer, Scott M SM; Kumari, Meena M; Kivimaki, Mika M; van der Harst, Pim P; Spector, Tim D TD; Loos, Ruth J F RJF; Province, Michael A MA; Parra, Esteban J EJ; Cruz, Miguel M; Psaty, Bruce M BM; Brandslund, Ivan I; Pramstaller, Peter P PP; Rotimi, Charles N CN; Christensen, Kaare K; Ripatti, Samuli S; Widén, Elisabeth E; Hakonarson, Hakon H; Grant, Struan F A SFA; Kiemeney, Lambertus A L M LALM; de Graaf, Jacqueline J; Loeffler, Markus M; Kronenberg, Florian F; Gu, Dongfeng D; Erdmann, Jeanette J; Schunkert, Heribert H; Franks, Paul W PW; Linneberg, Allan A; Jukema, J Wouter JW; Khera, Amit V AV; Männikkö, Minna M; Jarvelin, Marjo-Riitta MR; Kutalik, Zoltan Z; Francesco, Cucca C; Mook-Kanamori, Dennis O DO; van Dijk, Ko Willems KW; Watkins, Hugh H; Strachan, David P DP; Grarup, Niels N; Sever, Peter P; Poulter, Neil N; Chuang, Lee-Ming LM; Rotter, Jerome I JI; Dantoft, Thomas M TM; Karpe, Fredrik F; Neville, Matt J MJ; Timpson, Nicholas J NJ; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Khor, Chiea Chuen CC; Li, Hengtong H; Sabanayagam, Charumathi C; Peters, Annette A; Gieger, Christian C; Hattersley, Andrew T AT; Pedersen, Nancy L NL; Magnusson, Patrik K E PKE; Boomsma, Dorret I DI; Willemsen, Allegonda H M AHM; Cupples, LAdrienne L; van Meurs, Joyce B J JBJ; Ghanbari, Mohsen M; Gordon-Larsen, Penny P; Huang, Wei W; Kim, Young Jin YJ; Tabara, Yasuharu Y; Wareham, Nicholas J NJ; Langenberg, Claudia C; Zeggini, Eleftheria E; Kuusisto, Johanna J; Laakso, Markku M; Ingelsson, Erik E; Abecasis, Goncalo G; Chambers, John C JC; Kooner, Jaspal S JS; de Vries, Paul S PS; Morrison, Alanna C AC; Hazelhurst, Scott S; Ramsay, Michèle M; North, Kari E KE; Daviglus, Martha M; Kraft, Peter P; Martin, Nicholas G NG; Whitfield, John B JB; Abbas, Shahid S; Saleheen, Danish D; Walters, Robin G RG; Holmes, Michael V MV; Black, Corri C; Smith, Blair H BH; Baras, Aris A; Justice, Anne E AE; Buring, Julie E JE; Ridker, Paul M PM; Chasman, Daniel I DI; Kooperberg, Charles C; Tamiya, Gen G; Yamamoto, Masayuki M; van Heel, David A DA; Trembath, Richard C RC; Wei, Wei-Qi WQ; Jarvik, Gail P GP; Namjou, Bahram B; Hayes, M Geoffrey MG; Ritchie, Marylyn D MD; Jousilahti, Pekka P; Salomaa, Veikko V; Hveem, Kristian K; Åsvold, Bjørn Olav BO; Kubo, Michiaki M; Kamatani, Yoichiro Y; Okada, Yukinori Y; Murakami, Yoshinori Y; Kim, Bong-Jo BJ; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Zhang, Jifeng J; Chen, YEugene Y; Ho, Yuk-Lam YL; Lynch, Julie A JA; Rader, Daniel J DJ; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Gaziano, John M JM; Wilson, Peter W F PWF; Frayling, Timothy M TM; Hirschhorn, Joel N JN; Kathiresan, Sekar S; Mohlke, Karen L KL; Sun, Yan V YV; Morris, Andrew P AP; Boehnke, Michael M; Brown, Christopher D CD; Natarajan, Pradeep P; Deloukas, Panos P; Willer, Cristen J CJ; Assimes, Themistocles L TL; Peloso, Gina M GM
Publication Date: 2022-12-27

Variant appearance in text: ADH1B: His48Arg; rs1229984
PubMed Link: 36575460
Variant Present in the following documents:
  • Main text
  • 13059_2022_Article_2837.pdf
View BVdb publication page



A Genome-Wide Association Study Reveals a BDNF-Centered Molecular Network Associated with Alcohol Dependence and Related Clinical Measures.

Biomedicines
Levchenko, Anastasia A; Malov, Sergey S; Antonik, Alexey A; Protsvetkina, Anastasia A; Rybakova, Kseniya V KV; Kanapin, Alexander A; Yakovlev, Alexey N AN; Nenasteva, Anna Y AY; Nikolishin, Anton E AE; Cherkasov, Nikolay N; Chuprova, Natalia A NA; Blagonravova, Anna S AS; Sergeeva, Angelica V AV; Zhilyaeva, Tatyana V TV; Denisenko, Maria K MK; Gainetdinov, Raul R RR; Kibitov, Alexander O AO; Krupitsky, Evgeny M EM
Publication Date: 2022-11-22

Variant appearance in text: rs1229984
PubMed Link: 36551763
Variant Present in the following documents:
  • Main text
  • biomedicines-10-03007.pdf
View BVdb publication page



Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs1229984
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
View BVdb publication page



Genetic diversity fuels gene discovery for tobacco and alcohol use.

Nature
Saunders, Gretchen R B GRB; Wang, Xingyan X; Chen, Fang F; Jang, Seon-Kyeong SK; Liu, Mengzhen M; Wang, Chen C; Gao, Shuang S; Jiang, Yu Y; Khunsriraksakul, Chachrit C; Otto, Jacqueline M JM; Addison, Clifton C; Akiyama, Masato M; Albert, Christine M CM; Aliev, Fazil F; Alonso, Alvaro A; Arnett, Donna K DK; Ashley-Koch, Allison E AE; Ashrani, Aneel A AA; Barnes, Kathleen C KC; Barr, R Graham RG; Bartz, Traci M TM; Becker, Diane M DM; Bielak, Lawrence F LF; Benjamin, Emelia J EJ; Bis, Joshua C JC; Bjornsdottir, Gyda G; Blangero, John J; Bleecker, Eugene R ER; Boardman, Jason D JD; Boerwinkle, Eric E; Boomsma, Dorret I DI; Boorgula, Meher Preethi MP; Bowden, Donald W DW; Brody, Jennifer A JA; Cade, Brian E BE; Chasman, Daniel I DI; Chavan, Sameer S; Chen, Yii-Der Ida YI; Chen, Zhengming Z; Cheng, Iona I; Cho, Michael H MH; Choquet, Hélène H; Cole, John W JW; Cornelis, Marilyn C MC; Cucca, Francesco F; Curran, Joanne E JE; de Andrade, Mariza M; Dick, Danielle M DM; Docherty, Anna R AR; Duggirala, Ravindranath R; Eaton, Charles B CB; Ehringer, Marissa A MA; Esko, Tõnu T; Faul, Jessica D JD; Silva, Lilian Fernandes LF; Fiorillo, Edoardo E; Fornage, Myriam M; Freedman, Barry I BI; Gabrielsen, Maiken E ME; Garrett, Melanie E ME; Gharib, Sina A SA; Gieger, Christian C; Gillespie, Nathan N; Glahn, David C DC; Gordon, Scott D SD; Gu, Charles C CC; Gu, Dongfeng D; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Haessler, Jeffrey J; Hall, Michael E ME; Haller, Toomas T; Harris, Kathleen Mullan KM; He, Jiang J; Herd, Pamela P; Hewitt, John K JK; Hickie, Ian I; Hidalgo, Bertha B; Hokanson, John E JE; Hopfer, Christian C; Hottenga, JoukeJan J; Hou, Lifang L; Huang, Hongyan H; Hung, Yi-Jen YJ; Hunter, David J DJ; Hveem, Kristian K; Hwang, Shih-Jen SJ; Hwu, Chii-Min CM; Iacono, William W; Irvin, Marguerite R MR; Jee, Yon Ho YH; Johnson, Eric O EO; Joo, Yoonjung Y YY; Jorgenson, Eric E; Justice, Anne E AE; Kamatani, Yoichiro Y; Kaplan, Robert C RC; Kaprio, Jaakko J; Kardia, Sharon L R SLR; Keller, Matthew C MC; Kelly, Tanika N TN; Kooperberg, Charles C; Korhonen, Tellervo T; Kraft, Peter P; Krauter, Kenneth K; Kuusisto, Johanna J; Laakso, Markku M; Lasky-Su, Jessica J; Lee, Wen-Jane WJ; Lee, James J JJ; Levy, Daniel D; Li, Liming L; Li, Kevin K; Li, Yuqing Y; Lin, Kuang K; Lind, Penelope A PA; Liu, Chunyu C; Lloyd-Jones, Donald M DM; Lutz, Sharon M SM; Ma, Jiantao J; Mägi, Reedik R; Manichaikul, Ani A; Martin, Nicholas G NG; Mathur, Ravi R; Matoba, Nana N; McArdle, Patrick F PF; McGue, Matt M; McQueen, Matthew B MB; Medland, Sarah E SE; Metspalu, Andres A; Meyers, Deborah A DA; Millwood, Iona Y IY; Mitchell, Braxton D BD; Mohlke, Karen L KL; Moll, Matthew M; Montasser, May E ME; Morrison, Alanna C AC; Mulas, Antonella A; Nielsen, Jonas B JB; North, Kari E KE; Oelsner, Elizabeth C EC; Okada, Yukinori Y; Orrù, Valeria V; Palmer, Nicholette D ND; Palviainen, Teemu T; Pandit, Anita A; Park, S Lani SL; Peters, Ulrike U; Peters, Annette A; Peyser, Patricia A PA; Polderman, Tinca J C TJC; Rafaels, Nicholas N; Redline, Susan S; Reed, Robert M RM; Reiner, Alex P AP; Rice, John P JP; Rich, Stephen S SS; Richmond, Nicole E NE; Roan, Carol C; Rotter, Jerome I JI; Rueschman, Michael N MN; Runarsdottir, Valgerdur V; Saccone, Nancy L NL; Schwartz, David A DA; Shadyab, Aladdin H AH; Shi, Jingchunzi J; Shringarpure, Suyash S SS; Sicinski, Kamil K; Skogholt, Anne Heidi AH; Smith, Jennifer A JA; Smith, Nicholas L NL; Sotoodehnia, Nona N; Stallings, Michael C MC; Stefansson, Hreinn H; Stefansson, Kari K; Stitzel, Jerry A JA; Sun, Xiao X; Syed, Moin M; Tal-Singer, Ruth R; Taylor, Amy E AE; Taylor, Kent D KD; Telen, Marilyn J MJ; Thai, Khanh K KK; Tiwari, Hemant H; Turman, Constance C; Tyrfingsson, Thorarinn T; Wall, Tamara L TL; Walters, Robin G RG; Weir, David R DR; Weiss, Scott T ST; White, Wendy B WB; Whitfield, John B JB; Wiggins, Kerri L KL; Willemsen, Gonneke G; Willer, Cristen J CJ; Winsvold, Bendik S BS; Xu, Huichun H; Yanek, Lisa R LR; Yin, Jie J; Young, Kristin L KL; Young, Kendra A KA; Yu, Bing B; Zhao, Wei W; Zhou, Wei W; Zöllner, Sebastian S; Zuccolo, Luisa L; , ; , ; Batini, Chiara C; Bergen, Andrew W AW; Bierut, Laura J LJ; David, Sean P SP; Gagliano Taliun, Sarah A SA; Hancock, Dana B DB; Jiang, Bibo B; Munafò, Marcus R MR; Thorgeirsson, Thorgeir E TE; Liu, Dajiang J DJ; Vrieze, Scott S
Publication Date: 2022-12-07

Variant appearance in text: rs1229984
PubMed Link: 36477530
Variant Present in the following documents:
  • Main text
  • 41586_2022_Article_5477.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: ADH1B: H48R; rs1229984
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Causal risk factors for asthma in Mendelian randomization studies: A systematic review and meta-analysis.

Clinical And Translational Allergy
Mikkelsen, Heidi H; Landt, Eskild Morten EM; Benn, Marianne M; Nordestgaard, Børge Grønne BG; Dahl, Morten M
Publication Date: 2022-11

Variant appearance in text: rs1229984
PubMed Link: 36434743
Variant Present in the following documents:
  • Main text
  • CLT2-12-e12207.pdf
View BVdb publication page



Alcohol consumption and hepatocellular carcinoma: novel insights from a prospective cohort study and nonlinear Mendelian randomization analysis.

Bmc Medicine
Liu, Zhenqiu Z; Song, Ci C; Suo, Chen C; Fan, Hong H; Zhang, Tiejun T; Jin, Li L; Chen, Xingdong X
Publication Date: 2022-10-28

Variant appearance in text: rs1229984
PubMed Link: 36303185
Variant Present in the following documents:
  • Main text
  • 12916_2022_Article_2622.pdf
View BVdb publication page



Genome-Wide Investigation of Maximum Habitual Alcohol Intake in US Veterans in Relation to Alcohol Consumption Traits and Alcohol Use Disorder.

Jama Network Open
Deak, Joseph D JD; Levey, Daniel F DF; Wendt, Frank R FR; Zhou, Hang H; Galimberti, Marco M; Kranzler, Henry R HR; Gaziano, J Michael JM; Stein, Murray B MB; Polimanti, Renato R; Gelernter, Joel J; ,
Publication Date: 2022-10-03

Variant appearance in text: rs1229984
PubMed Link: 36301540
Variant Present in the following documents:
  • Main text
  • jamanetwopen-e2238880-s001.pdf
View BVdb publication page



Multiomics study of nonalcoholic fatty liver disease.

Nature Genetics
Sveinbjornsson, Gardar G; Ulfarsson, Magnus O MO; Thorolfsdottir, Rosa B RB; Jonsson, Benedikt A BA; Einarsson, Eythor E; Gunnlaugsson, Gylfi G; Rognvaldsson, Solvi S; Arnar, David O DO; Baldvinsson, Magnus M; Bjarnason, Ragnar G RG; , ; Eiriksdottir, Thjodbjorg T; Erikstrup, Christian C; Ferkingstad, Egil E; Halldorsson, Gisli H GH; Helgason, Hannes H; Helgadottir, Anna A; Hindhede, Lotte L; Hjorleifsson, Grimur G; Jones, David D; Knowlton, Kirk U KU; Lund, Sigrun H SH; Melsted, Pall P; Norland, Kristjan K; Olafsson, Isleifur I; Olafsson, Sigurdur S; Oskarsson, Gudjon R GR; Ostrowski, Sisse Rye SR; Pedersen, Ole Birger OB; Snaebjarnarson, Auðunn S AS; Sigurdsson, Emil E; Steinthorsdottir, Valgerdur V; Schwinn, Michael M; Thorgeirsson, Gudmundur G; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Bundgaard, Henning H; Nadauld, Lincoln L; Bjornsson, Einar S ES; Rulifson, Ingrid C IC; Rafnar, Thorunn T; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K
Publication Date: 2022-11

Variant appearance in text: ADH1B: His48Arg; rs1229984
PubMed Link: 36280732
Variant Present in the following documents:
  • Main text
  • 41588_2022_1199_MOESM4_ESM.xlsx, sheet 1
  • 41588_2022_Article_1199.pdf
  • 41588_2022_1199_MOESM3_ESM.pdf
View BVdb publication page



Clonal relationship and alcohol consumption-associated mutational signature in synchronous hypopharyngeal tumours and oesophageal squamous cell carcinoma.

British Journal Of Cancer
Ko, Josephine Mun-Yee JM; Guo, Chen C; Liu, Conghui C; Ning, Lvwen L; Dai, Wei W; Tao, Lihua L; Lo, Anthony Wing-Ip AW; Wong, Carissa Wing-Yan CW; Wong, Ian Yu-Hong IY; Chan, Fion Siu-Yin FS; Wong, Claudia Lai-Yin CL; Chan, Kwan Kit KK; Law, Tsz Ting TT; Lee, Nikki Pui-Yue NP; Liu, Zhichao Z; Jiang, Haoyao H; Li, Zhigang Z; Law, Simon S; Lung, Maria Li ML
Publication Date: 2022-12

Variant appearance in text: rs1229984
PubMed Link: 36261585
Variant Present in the following documents:
  • Main text
  • 41416_2022_Article_1995.pdf
View BVdb publication page



Gene polymorphisms of cyclin-dependent kinase inhibitor and matrix metalloproteinase-9 in Sudanese patients with esophageal squamous cell carcinoma.

Molecular Genetics & Genomic Medicine
Eltayeb, Majdolin Mohammed MM; Ali, Mohamed M MM; Omar, Saeed M SM; Mohamed, Nouh Saad NS; Adam, Ishag I; Hamdan, Hamdan Z HZ
Publication Date: 2022-10-19

Variant appearance in text: ADH1B: His48Arg; rs1229984
PubMed Link: 36259348
Variant Present in the following documents:
  • Main text
  • MGG3-10-e2074.pdf
View BVdb publication page



ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals.

Nutrition & Metabolism
Lin, Chun-Hsiang CH; Nfor, Oswald Ndi ON; Ho, Chien-Chang CC; Hsu, Shu-Yi SY; Tantoh, Disline Manli DM; Liaw, Yi-Chia YC; Mochly-Rosen, Daria D; Chen, Che-Hong CH; Liaw, Yung-Po YP
Publication Date: 2022-10-18

Variant appearance in text: rs1229984
PubMed Link: 36258220
Variant Present in the following documents:
  • Main text
  • 12986_2022_Article_702.pdf
View BVdb publication page



Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: rs1229984
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
  • 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ADH1B: H48R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page