FUT2 c.249C>T ;(p.Y83=)

Variant ID: 19-49206462-C-T

NM_000511.5(FUT2):c.249C>T;(p.Y83=)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.

Jama Psychiatry
Gong, Weiming W; Guo, Ping P; Li, Yuanming Y; Liu, Lu L; Yan, Ran R; Liu, Shuai S; Wang, Shukang S; Xue, Fuzhong F; Zhou, Xiang X; Yuan, Zhongshang Z
Publication Date: 2023-02-08

Variant appearance in text: rs681343
PubMed Link: 36753304
Variant Present in the following documents:
  • jamapsychiatry-e224974-s001.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: FUT2: Y83Y; rs681343
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: FUT2: Y83Y
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genome-wide association analyses of common infections in a large practice-based biobank.

Bmc Genomics
Jiang, Lan L; Kerchberger, V Eric VE; Shaffer, Christian C; Dickson, Alyson L AL; Ormseth, Michelle J MJ; Daniel, Laura L LL; Leon, Barbara G Carranza BGC; Cox, Nancy J NJ; Chung, Cecilia P CP; Wei, Wei-Qi WQ; Stein, C Michael CM; Feng, QiPing Q
Publication Date: 2022-09-27

Variant appearance in text: rs681343
PubMed Link: 36167494
Variant Present in the following documents:
  • Main text
  • 12864_2022_Article_8888.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: FUT2: Y83Y; rs681343
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media.

Frontiers In Cellular And Infection Microbiology
Elling, Christina L CL; Scholes, Melissa A MA; Streubel, Sven-Olrik SO; Larson, Eric D ED; Wine, Todd M TM; Bootpetch, Tori C TC; Yoon, Patricia J PJ; Kofonow, Jennifer M JM; Gubbels, Samuel P SP; Cass, Stephen P SP; Robertson, Charles E CE; Jenkins, Herman A HA; Prager, Jeremy D JD; Frank, Daniel N DN; Chan, Kenny H KH; Friedman, Norman R NR; Ryan, Allen F AF; Santos-Cortez, Regie Lyn P RLP
Publication Date: 2021

Variant appearance in text: rs681343
PubMed Link: 35096646
Variant Present in the following documents:
  • Main text
  • fcimb-11-798246.pdf
View BVdb publication page



Mapping the serum proteome to neurological diseases using whole genome sequencing.

Nature Communications
Png, Grace G; Barysenka, Andrei A; Repetto, Linda L; Navarro, Pau P; Shen, Xia X; Pietzner, Maik M; Wheeler, Eleanor E; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Dedoussis, George G; Mälarstig, Anders A; Wilson, James F JF; Gilly, Arthur A; Zeggini, Eleftheria E
Publication Date: 2021-12-02

Variant appearance in text: rs681343
PubMed Link: 34857772
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27387.pdf
View BVdb publication page



Mapping the serum proteome to neurological diseases using whole genome sequencing.

Nature Communications
Png, Grace G; Barysenka, Andrei A; Repetto, Linda L; Navarro, Pau P; Shen, Xia X; Pietzner, Maik M; Wheeler, Eleanor E; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Dedoussis, George G; Mälarstig, Anders A; Wilson, James F JF; Gilly, Arthur A; Zeggini, Eleftheria E
Publication Date: 2021-12-02

Variant appearance in text: rs681343
PubMed Link: 34857772
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27387.pdf
View BVdb publication page



Effects of Insomnia on Peptic Ulcer Disease Using Mendelian Randomization.

Oxidative Medicine And Cellular Longevity
Zha, Ling-Feng LF; Dong, Jiang-Tao JT; Wang, Jing-Lin JL; Chen, Qian-Wen QW; Wu, Jian-Fei JF; Zhou, Ying-Chao YC; Nie, Shao-Fang SF; Tu, Xin X
Publication Date: 2021

Variant appearance in text: rs681343
PubMed Link: 34616502
Variant Present in the following documents:
  • Main text
  • OMCL2021-2216314.pdf
View BVdb publication page



Human genomics of the humoral immune response against polyomaviruses.

Virus Evolution
Hodel, F F; Chong, A Y AY; Scepanovic, P P; Xu, Z M ZM; Naret, O O; Thorball, C W CW; Rüeger, S S; Marques-Vidal, P P; Vollenweider, P P; Begemann, M M; Ehrenreich, H H; Brenner, N N; Bender, N N; Waterboer, T T; Mentzer, A J AJ; Hill, A V S AVS; Hammer, C C; Fellay, J J
Publication Date: 2021

Variant appearance in text: rs681343
PubMed Link: 34532061
Variant Present in the following documents:
  • Main text
  • veab058.pdf
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: FUT2: Y83Y; rs681343
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: FUT2: Y83Y; rs681343
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.

Frontiers In Immunology
Takeuchi, Masaki M; Mizuki, Nobuhisa N; Ohno, Shigeaki S
Publication Date: 2021

Variant appearance in text: rs681343
PubMed Link: 33912164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nuclear genome-wide associations with mitochondrial heteroplasmy.

Science Advances
Nandakumar, Priyanka P; Tian, Chao C; O'Connell, Jared J; , ; Hinds, David D; Paterson, Andrew D AD; Sondheimer, Neal N
Publication Date: 2021-03

Variant appearance in text: rs681343
PubMed Link: 33731350
Variant Present in the following documents:
  • Main text
  • abe7520.pdf
View BVdb publication page



Nuclear genome-wide associations with mitochondrial heteroplasmy.

Science Advances
Nandakumar, Priyanka P; Tian, Chao C; O'Connell, Jared J; , ; Hinds, David D; Paterson, Andrew D AD; Sondheimer, Neal N
Publication Date: 2021-03

Variant appearance in text: rs681343
PubMed Link: 33731350
Variant Present in the following documents:
  • Main text
  • abe7520.pdf
View BVdb publication page



Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability.

Frontiers In Medicine
Ortiz-Fernández, Lourdes L; Sawalha, Amr H AH
Publication Date: 2021

Variant appearance in text: rs681343
PubMed Link: 33644100
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.

Nature Communications
Wu, Yeda Y; Murray, Graham K GK; Byrne, Enda M EM; Sidorenko, Julia J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2021-02-19

Variant appearance in text: rs681343
PubMed Link: 33608531
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21280.pdf
  • 41467_2021_21280_MOESM1_ESM.pdf
View BVdb publication page



A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Communications Biology
Bell, Steven S; Rigas, Andreas S AS; Magnusson, Magnus K MK; Ferkingstad, Egil E; Allara, Elias E; Bjornsdottir, Gyda G; Ramond, Anna A; Sørensen, Erik E; Halldorsson, Gisli H GH; Paul, Dirk S DS; Burgdorf, Kristoffer S KS; Eggertsson, Hannes P HP; Howson, Joanna M M JMM; Thørner, Lise W LW; Kristmundsdottir, Snaedis S; Astle, William J WJ; Erikstrup, Christian C; Sigurdsson, Jon K JK; Vuckovic, Dragana D; Dinh, Khoa M KM; Tragante, Vinicius V; Surendran, Praveen P; Pedersen, Ole B OB; Vidarsson, Brynjar B; Jiang, Tao T; Paarup, Helene M HM; Onundarson, Pall T PT; Akbari, Parsa P; Nielsen, Kaspar R KR; Lund, Sigrun H SH; Juliusson, Kristinn K; Magnusson, Magnus I MI; Frigge, Michael L ML; Oddsson, Asmundur A; Olafsson, Isleifur I; Kaptoge, Stephen S; Hjalgrim, Henrik H; Runarsson, Gudmundur G; Wood, Angela M AM; Jonsdottir, Ingileif I; Hansen, Thomas F TF; Sigurdardottir, Olof O; Stefansson, Hreinn H; Rye, David D; , ; Peters, James E JE; Westergaard, David D; Holm, Hilma H; Soranzo, Nicole N; Banasik, Karina K; Thorleifsson, Gudmar G; Ouwehand, Willem H WH; Thorsteinsdottir, Unnur U; Roberts, David J DJ; Sulem, Patrick P; Butterworth, Adam S AS; Gudbjartsson, Daniel F DF; Danesh, John J; Brunak, Søren S; Di Angelantonio, Emanuele E; Ullum, Henrik H; Stefansson, Kari K
Publication Date: 2021-02-03

Variant appearance in text: rs681343
PubMed Link: 33536631
Variant Present in the following documents:
  • 42003_2020_1575_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses.

Nature Communications
Ahluwalia, Tarunveer S TS; Eliasen, Anders U AU; Sevelsted, Astrid A; Pedersen, Casper-Emil T CT; Stokholm, Jakob J; Chawes, Bo B; Bork-Jensen, Jette J; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Sharma, Amitabh A; Weiss, Scott T ST; Evans, Michael D MD; Jackson, Daniel J DJ; Morin, Andreanne A; Krogfelt, Karen A KA; Schjørring, Susanne S; Mortensen, Preben B PB; Hougaard, David M DM; Bybjerg-Grauholm, Jonas J; Bækvad-Hansen, Marie M; Mors, Ole O; Nordentoft, Merete M; Børglum, Anders D AD; Werge, Thomas T; Agerbo, Esben E; Gern, James E JE; Lemanske, Robert F RF; Ober, Carole C; Pedersen, Anders G AG; Bisgaard, Hans H; Bønnelykke, Klaus K
Publication Date: 2020-12-16

Variant appearance in text: rs681343
PubMed Link: 33328473
Variant Present in the following documents:
  • 41467_2020_19814_MOESM2_ESM.pdf
View BVdb publication page



Time of Lactation and Maternal Fucosyltransferase Genetic Polymorphisms Determine the Variability in Human Milk Oligosaccharides.

Frontiers In Nutrition
Lefebvre, Gregory G; Shevlyakova, Maya M; Charpagne, Aline A; Marquis, Julien J; Vogel, Mandy M; Kirsten, Toralf T; Kiess, Wieland W; Austin, Sean S; Sprenger, Norbert N; Binia, Aristea A
Publication Date: 2020

Variant appearance in text: rs681343
PubMed Link: 33195368
Variant Present in the following documents:
  • Main text
  • fnut-07-574459.pdf
View BVdb publication page



The landscape of host genetic factors involved in immune response to common viral infections.

Genome Medicine
Kachuri, Linda L; Francis, Stephen S SS; Morrison, Maike L ML; Wendt, George A GA; Bossé, Yohan Y; Cavazos, Taylor B TB; Rashkin, Sara R SR; Ziv, Elad E; Witte, John S JS
Publication Date: 2020-10-27

Variant appearance in text: rs681343
PubMed Link: 33109261
Variant Present in the following documents:
  • Main text
View BVdb publication page



The landscape of host genetic factors involved in immune response to common viral infections.

Medrxiv : The Preprint Server For Health Sciences
Kachuri, Linda L; Francis, Stephen S SS; Morrison, Maike M; Wendt, George A GA; Bossé, Yohan Y; Cavazos, Taylor B TB; Rashkin, Sara R SR; Ziv, Elad E; Witte, John S JS
Publication Date: 2020-09-05

Variant appearance in text: rs681343
PubMed Link: 32511533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rotavirus A shedding and HBGA host genetic susceptibility in a birth community-cohort, Rio de Janeiro, Brazil, 2014-2018.

Scientific Reports
Cantelli, Carina Pacheco CP; Velloso, Alvaro Jorge AJ; Assis, Rosane Maria Santos de RMS; Barros, José Júnior JJ; Mello, Francisco Campello do Amaral FCDA; Cunha, Denise Cotrim da DCD; Brasil, Patricia P; Nordgren, Johan J; Svensson, Lennart L; Miagostovich, Marize Pereira MP; Leite, José Paulo Gagliardi JPG; Moraes, Marcia Terezinha Baroni de MTB
Publication Date: 2020-04-24

Variant appearance in text: rs681343
PubMed Link: 32332841
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_64025.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs681343
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: FUT2: 249C>T; Tyr83=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Panel 3: Genomics, precision medicine and targeted therapies.

International Journal Of Pediatric Otorhinolaryngology
Santos-Cortez, Regie Lyn P RLP; Bhutta, Mahmood F MF; Earl, Joshua P JP; Hafrén, Lena L; Jennings, Michael M; Mell, Joshua C JC; Pichichero, Michael E ME; Ryan, Allen F AF; Tateossian, Hilda H; Ehrlich, Garth D GD
Publication Date: 2020-03

Variant appearance in text: FUT2: 249C>T; Tyr83=; rs681343
PubMed Link: 32007292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human Neonatal Rotavirus Vaccine (RV3-BB) Produces Vaccine Take Irrespective of Histo-Blood Group Antigen Status.

The Journal Of Infectious Diseases
Boniface, Karen K; Byars, Sean G SG; Cowley, Daniel D; Kirkwood, Carl D CD; Bines, Julie E JE
Publication Date: 2020-03-16

Variant appearance in text: rs681343
PubMed Link: 31763671
Variant Present in the following documents:
  • jiz333_suppl_supplementary_table_s2.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: FUT2: Y83Y; rs681343
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

Nature Communications
Teumer, Alexander A; Li, Yong Y; Ghasemi, Sahar S; Prins, Bram P BP; Wuttke, Matthias M; Hermle, Tobias T; Giri, Ayush A; Sieber, Karsten B KB; Qiu, Chengxiang C; Kirsten, Holger H; Tin, Adrienne A; Chu, Audrey Y AY; Bansal, Nisha N; Feitosa, Mary F MF; Wang, Lihua L; Chai, Jin-Fang JF; Cocca, Massimiliano M; Fuchsberger, Christian C; Gorski, Mathias M; Hoppmann, Anselm A; Horn, Katrin K; Li, Man M; Marten, Jonathan J; Noce, Damia D; Nutile, Teresa T; Sedaghat, Sanaz S; Sveinbjornsson, Gardar G; Tayo, Bamidele O BO; van der Most, Peter J PJ; Xu, Yizhe Y; Yu, Zhi Z; Gerstner, Lea L; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Baptista, Daniela D; Biggs, Mary L ML; Boerwinkle, Eric E; Brenner, Hermann H; Burkhardt, Ralph R; Carroll, Robert J RJ; Chee, Miao-Li ML; Chee, Miao-Ling ML; Chen, Mengmeng M; Cheng, Ching-Yu CY; Cook, James P JP; Coresh, Josef J; Corre, Tanguy T; Danesh, John J; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Degenhardt, Frauke F; Dittrich, Katalin K; Divers, Jasmin J; Eckardt, Kai-Uwe KU; Ehret, Georg G; Endlich, Karlhans K; Felix, Janine F JF; Franco, Oscar H OH; Franke, Andre A; Freedman, Barry I BI; Freitag-Wolf, Sandra S; Gansevoort, Ron T RT; Giedraitis, Vilmantas V; Gögele, Martin M; Grundner-Culemann, Franziska F; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Hamet, Pavel P; Harris, Tamara B TB; Hicks, Andrew A AA; Holm, Hilma H; Foo, Valencia Hui Xian VHX; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Ingelsson, Erik E; Jaddoe, Vincent W V VWV; Jakobsdottir, Johanna J; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Khor, Chiea-Chuen CC; Kiess, Wieland W; Koenig, Wolfgang W; Körner, Antje A; Kovacs, Peter P; Kramer, Holly H; Krämer, Bernhard K BK; Kronenberg, Florian F; Lange, Leslie A LA; Langefeld, Carl D CD; Lee, Jeannette Jen-Mai JJ; Lehtimäki, Terho T; Lieb, Wolfgang W; Lim, Su-Chi SC; Lind, Lars L; Lindgren, Cecilia M CM; Liu, Jianjun J; Loeffler, Markus M; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Maranville, Joseph C JC; Mascalzoni, Deborah D; McMullen, Barbara B; Meisinger, Christa C; Meitinger, Thomas T; Miliku, Kozeta K; Mook-Kanamori, Dennis O DO; Müller-Nurasyid, Martina M; Mychaleckyj, Josyf C JC; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Noordam, Raymond R; Connell, Jeffrey O' JO; Olafsson, Isleifur I; Palmer, Nicholette D ND; Peters, Annette A; Podgornaia, Anna I AI; Ponte, Belen B; Poulain, Tanja T; Pramstaller, Peter P PP; Rabelink, Ton J TJ; Raffield, Laura M LM; Reilly, Dermot F DF; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Runz, Heiko H; Ryan, Kathleen A KA; Sabanayagam, Charumathi C; Saum, Kai-Uwe KU; Schöttker, Ben B; Shaffer, Christian M CM; Shi, Yuan Y; Smith, Albert V AV; Strauch, Konstantin K; Stumvoll, Michael M; Sun, Benjamin B BB; Szymczak, Silke S; Tai, E-Shyong ES; Tan, Nicholas Y Q NYQ; Taylor, Kent D KD; Teren, Andrej A; Tham, Yih-Chung YC; Thiery, Joachim J; Thio, Chris H L CHL; Thomsen, Hauke H; Thorsteinsdottir, Unnur U; Tönjes, Anke A; Tremblay, Johanne J; Uitterlinden, André G AG; van der Harst, Pim P; Verweij, Niek N; Vogelezang, Suzanne S; Völker, Uwe U; Waldenberger, Melanie M; Wang, Chaolong C; Wilson, Otis D OD; Wong, Charlene C; Wong, Tien-Yin TY; Yang, Qiong Q; Yasuda, Masayuki M; Akilesh, Shreeram S; Bochud, Murielle M; Böger, Carsten A CA; Devuyst, Olivier O; Edwards, Todd L TL; Ho, Kevin K; Morris, Andrew P AP; Parsa, Afshin A; Pendergrass, Sarah A SA; Psaty, Bruce M BM; Rotter, Jerome I JI; Stefansson, Kari K; Wilson, James G JG; Susztak, Katalin K; Snieder, Harold H; Heid, Iris M IM; Scholz, Markus M; Butterworth, Adam S AS; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A
Publication Date: 2019-09-11

Variant appearance in text: rs681343
PubMed Link: 31511532
Variant Present in the following documents:
  • 41467_2019_11576_MOESM2_ESM.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs681343
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



FUT2 Variants Confer Susceptibility to Familial Otitis Media.

American Journal Of Human Genetics
Santos-Cortez, Regie Lyn P RLP; Chiong, Charlotte M CM; Frank, Daniel N DN; Ryan, Allen F AF; Giese, Arnaud P J APJ; Bootpetch Roberts, Tori T; Daly, Kathleen A KA; Steritz, Matthew J MJ; Szeremeta, Wasyl W; Pedro, Melquiadesa M; Pine, Harold H; Yarza, Talitha Karisse L TKL; Scholes, Melissa A MA; Llanes, Erasmo Gonzalo D V EGDV; Yousaf, Saira S; Friedman, Norman N; Tantoco, Ma Leah C MLC; Wine, Todd M TM; Labra, Patrick John PJ; Benoit, Jeanne J; Ruiz, Amanda G AG; de la Cruz, Rhodieleen Anne R RAR; Greenlee, Christopher C; Yousaf, Ayesha A; Cardwell, Jonathan J; Nonato, Rachelle Marie A RMA; Ray, Dylan D; Ong, Kimberly Mae C KMC; So, Edward E; Robertson, Charles E CE; Dinwiddie, Jordyn J; Lagrana-Villagracia, Sheryl Mae SM; , ; Gubbels, Samuel P SP; Shaikh, Rehan S RS; Cass, Stephen P SP; Einarsdottir, Elisabet E; Lee, Nanette R NR; Schwartz, David A DA; Gloria-Cruz, Teresa Luisa I TLI; Bamshad, Michael J MJ; Yang, Ivana V IV; Kere, Juha J; Abes, Generoso T GT; Prager, Jeremy D JD; Riazuddin, Saima S; Chan, Abner L AL; Yoon, Patricia J PJ; Nickerson, Deborah A DA; Cutiongco-de la Paz, Eva Maria EM; Streubel, Sven-Olrik SO; Reyes-Quintos, Maria Rina T MRT; Jenkins, Herman A HA; Mattila, Petri P; Chan, Kenny H KH; Mohlke, Karen L KL; Leal, Suzanne M SM; Hafrén, Lena L; Chonmaitree, Tasnee T; Sale, Michele M MM; Ahmed, Zubair M ZM
Publication Date: 2018-11-01

Variant appearance in text: rs681343
PubMed Link: 30401457
Variant Present in the following documents:
  • Main text
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Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.

The Open Rheumatology Journal
Deng, Yan Y; Zhu, Weifeng W; Zhou, Xiaodong X
Publication Date: 2018

Variant appearance in text: rs681343
PubMed Link: 30069262
Variant Present in the following documents:
  • Main text
  • TORJ-12-70.pdf
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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications
Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M
Publication Date: 2018-06-21

Variant appearance in text: FUT2: Tyr83Tyr; rs681343
PubMed Link: 29930244
Variant Present in the following documents:
  • 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1
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The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.

Human Molecular Genetics
Velkova, Aneliya A; Diaz, Jennifer E L JEL; Pangilinan, Faith F; Molloy, Anne M AM; Mills, James L JL; Shane, Barry B; Sanchez, Erica E; Cunningham, Conal C; McNulty, Helene H; Cropp, Cheryl D CD; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Brody, Lawrence C LC
Publication Date: 2017-12-15

Variant appearance in text: rs681343
PubMed Link: 29040465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.

Nature Communications
Tian, Chao C; Hromatka, Bethann S BS; Kiefer, Amy K AK; Eriksson, Nicholas N; Noble, Suzanne M SM; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2017-09-19

Variant appearance in text: rs681343
PubMed Link: 28928442
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_257.pdf
  • 41467_2017_257_MOESM1_ESM.pdf
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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: FUT2: Y83Y; rs681343
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs681343
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-8.pdf
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: FUT2: Y83Y; rs681343
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page