FUT2 c.-2-40C>T

Variant ID: 19-49206172-C-T

NM_000511.5(FUT2):c.-2-40C>T

This variant was identified in 47 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs516246
PubMed Link: 37277652
Variant Present in the following documents:
  • Main text
  • 41588_2023_Article_1409.pdf
View BVdb publication page



GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.

Nature
Pairo-Castineira, Erola E; Rawlik, Konrad K; Bretherick, Andrew D AD; Qi, Ting T; Wu, Yang Y; Nassiri, Isar I; McConkey, Glenn A GA; Zechner, Marie M; Klaric, Lucija L; Griffiths, Fiona F; Oosthuyzen, Wilna W; Kousathanas, Athanasios A; Richmond, Anne A; Millar, Jonathan J; Russell, Clark D CD; Malinauskas, Tomas T; Thwaites, Ryan R; Morrice, Kirstie K; Keating, Sean S; Maslove, David D; Nichol, Alistair A; Semple, Malcolm G MG; Knight, Julian J; Shankar-Hari, Manu M; Summers, Charlotte C; Hinds, Charles C; Horby, Peter P; Ling, Lowell L; McAuley, Danny D; Montgomery, Hugh H; Openshaw, Peter J M PJM; Begg, Colin C; Walsh, Timothy T; Tenesa, Albert A; Flores, Carlos C; Riancho, José A JA; Rojas-Martinez, Augusto A; Lapunzina, Pablo P; , ; , ; , ; , ; Yang, Jian J; Ponting, Chris P CP; Wilson, James F JF; Vitart, Veronique V; Abedalthagafi, Malak M; Luchessi, Andre D AD; Parra, Esteban J EJ; Cruz, Raquel R; Carracedo, Angel A; Fawkes, Angie A; Murphy, Lee L; Rowan, Kathy K; Pereira, Alexandre C AC; Law, Andy A; Fairfax, Benjamin B; Hendry, Sara Clohisey SC; Baillie, J Kenneth JK
Publication Date: 2023-05-17

Variant appearance in text: rs516246
PubMed Link: 37198478
Variant Present in the following documents:
  • Main text
  • 41586_2023_Article_6034.pdf
  • 41586_2023_6034_MOESM3_ESM.pdf
  • 41586_2023_6034_MOESM1_ESM.pdf
View BVdb publication page



Are inflammatory bowel diseases associated with an increased risk of COVID-19 susceptibility and severity? A two-sample Mendelian randomization study.

Frontiers In Genetics
Ai, Qixiong Q; Yang, Bo B
Publication Date: 2023

Variant appearance in text: rs516246
PubMed Link: 37152982
Variant Present in the following documents:
  • Main text
  • fgene-14-1095050.pdf
View BVdb publication page



Genome-wide association studies reveal shared genetic haplotypes of autoimmune rheumatic and endocrine diseases with psychiatric disorders.

Brain And Behavior
Voskarides, Konstantinos K; Giannopoulou, Nefeli N; Eid, Rasha R; Parperis, Konstantinos K; Chatzittofis, Andreas A
Publication Date: 2023-03-16

Variant appearance in text: rs516246
PubMed Link: 36924079
Variant Present in the following documents:
  • Main text
  • BRB3-13-e2955.pdf
View BVdb publication page



Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open
Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2022-12-01

Variant appearance in text: rs516246
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



Short Chain Fatty Acid Metabolism in Relation to Gut Microbiota and Genetic Variability.

Nutrients
Ramos Meyers, Guilherme G; Samouda, Hanen H; Bohn, Torsten T
Publication Date: 2022-12-16

Variant appearance in text: rs516246
PubMed Link: 36558520
Variant Present in the following documents:
  • Main text
  • nutrients-14-05361.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: rs516246
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications
Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ
Publication Date: 2022-11-04

Variant appearance in text: rs516246
PubMed Link: 36333282
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34163.pdf
View BVdb publication page



Both indirect maternal and direct fetal genetic effects reflect the observational relationship between higher birth weight and lower adult bone mass.

Bmc Medicine
Xia, Jiang-Wei JW; Zhang, Lin L; Li, Jin J; Yuan, Cheng-Da CD; Zhu, Xiao-Wei XW; Qian, Yu Y; Khederzadeh, Saber S; Gu, Jia-Xuan JX; Xu, Lin L; Gao, Jian-Hua JH; Liu, Ke-Qi KQ; Karasik, David D; Xie, Shu-Yang SY; Chen, Guo-Bo GB; Zheng, Hou-Feng HF
Publication Date: 2022-10-04

Variant appearance in text: rs516246
PubMed Link: 36192722
Variant Present in the following documents:
  • Main text
  • 12916_2022_Article_2531.pdf
View BVdb publication page



Inflammatory bowel disease and cardiovascular disease: A two-sample Mendelian randomization analysis.

Frontiers In Cardiovascular Medicine
Wu, Kaiwen K; Li, Aoshuang A; Liu, Lei L; Shu, Tao T; Xia, Demeng D; Sun, Xiaobin X
Publication Date: 2022

Variant appearance in text: rs516246
PubMed Link: 36119744
Variant Present in the following documents:
  • Main text
  • fcvm-09-927120.pdf
View BVdb publication page



Genotype imputation and polygenic score estimation in northwestern Russian population.

Plos One
Kolosov, Nikita N; Rezapova, Valeriia V; Rotar, Oxana O; Loboda, Alexander A; Freylikhman, Olga O; Melnik, Olesya O; Sergushichev, Alexey A; Stevens, Christine C; Voortman, Trudy T; Kostareva, Anna A; Konradi, Alexandra A; Daly, Mark J MJ; Artomov, Mykyta M
Publication Date: 2022

Variant appearance in text: rs516246
PubMed Link: 35763490
Variant Present in the following documents:
  • pone.0269434.s001.pdf
View BVdb publication page



Insights into the underlying mechanisms and clinical management of microscopic colitis in relation to other gastrointestinal disorders.

Gastroenterology Report
Liu, Yuanbin Y; Chen, Mingkai M
Publication Date: 2022

Variant appearance in text: rs516246
PubMed Link: 35401986
Variant Present in the following documents:
  • Main text
  • goac011.pdf
View BVdb publication page



Extensive Study of Breast Milk and Infant Growth: Protocol of the Cambridge Baby Growth and Breastfeeding Study (CBGS-BF).

Nutrients
Olga, Laurentya L; Petry, Clive J CJ; van Diepen, Janna A JA; Prentice, Philippa M PM; Hughes, Ieuan A IA; Vervoort, Jacques J; Boekhorst, Jos J; Chichlowski, Maciej M; Gross, Gabriele G; Dunger, David B DB; Ong, Ken K KK
Publication Date: 2021-08-21

Variant appearance in text: rs516246
PubMed Link: 34445039
Variant Present in the following documents:
  • Main text
  • nutrients-13-02879.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: rs516246
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: rs516246
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Mendelian randomization as an approach to assess causal effects of inflammatory bowel disease on atrial fibrillation.

Aging
Chen, LaiTe L; Fu, GuoSheng G; Jiang, ChenYang C
Publication Date: 2021-04-06

Variant appearance in text: rs516246
PubMed Link: 33824227
Variant Present in the following documents:
  • Main text
  • aging-13-202906.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: FUT2: -2-40C>T; rs516246
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: rs516246
PubMed Link: 33328473
Variant Present in the following documents:
  • 41467_2020_19814_MOESM1_ESM.pdf
  • 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: rs516246
PubMed Link: 33195368
Variant Present in the following documents:
  • Main text
  • fnut-07-574459.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs516246
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Collagenous Colitis Is Associated With HLA Signature and Shares Genetic Risks With Other Immune-Mediated Diseases.

Gastroenterology
Stahl, Eli E; Roda, Giulia G; Dobbyn, Amanda A; Hu, Jianzhong J; Zhang, Zhongyang Z; Westerlind, Helga H; Bonfiglio, Ferdinando F; Raj, Towfique T; Torres, Joana J; Chen, Anli A; Petras, Robert R; Pardi, Darrell S DS; Iuga, Alina C AC; Levi, Gabriel S GS; Cao, Wenqing W; Jain, Prantesh P; Rieder, Florian F; Gordon, Ilyssa O IO; Cho, Judy H JH; D'Amato, Mauro M; Harpaz, Noam N; Hao, Ke K; Colombel, Jean Frederic JF; Peter, Inga I
Publication Date: 2020-08

Variant appearance in text: rs516246
PubMed Link: 32371109
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of liver enzymes on body composition: A Mendelian randomization study.

Plos One
Liu, Junxi J; Au Yeung, Shiu Lun SL; Kwok, Man Ki MK; Leung, June Yue Yan JYY; Hui, Lai Ling LL; Leung, Gabriel Matthew GM; Schooling, C Mary CM
Publication Date: 2020

Variant appearance in text: rs516246
PubMed Link: 32045441
Variant Present in the following documents:
  • Main text
  • pone.0228737.pdf
View BVdb publication page



Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes.

Diabetologia
Claessens, Laura A LA; Wesselius, Joris J; van Lummel, Menno M; Laban, Sandra S; Mulder, Flip F; Mul, Dick D; Nikolic, Tanja T; Aanstoot, Henk-Jan HJ; Koeleman, Bobby P C BPC; Roep, Bart O BO
Publication Date: 2020-02

Variant appearance in text: rs516246
PubMed Link: 31754749
Variant Present in the following documents:
  • 125_2019_Article_5032.pdf
View BVdb publication page



The effect of liver enzymes on adiposity: a Mendelian randomization study.

Scientific Reports
Liu, Junxi J; Au Yeung, Shiu Lun SL; Kwok, Man Ki MK; Leung, June Yue Yan JYY; Lin, Shi Lin SL; Hui, Lai Ling LL; Leung, Gabriel Matthew GM; Schooling, C Mary CM
Publication Date: 2019-11-14

Variant appearance in text: rs516246
PubMed Link: 31727910
Variant Present in the following documents:
  • Main text
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: rs516246
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium.

Obesity (Silver Spring, Md.)
Young, Kendra A KA; Palmer, Nicholette D ND; Fingerlin, Tasha E TE; Langefeld, Carl D CD; Norris, Jill M JM; Wang, Nan N; Xiang, Anny H AH; Guo, Xiuqing X; Williams, Adrienne H AH; Chen, Yii-Der I YI; Taylor, Kent D KD; Rotter, Jerome I JI; Raffel, Leslie J LJ; Goodarzi, Mark O MO; Watanabe, Richard M RM; Wagenknecht, Lynne E LE
Publication Date: 2019-08

Variant appearance in text: rs516246
PubMed Link: 31219225
Variant Present in the following documents:
  • Main text
  • nihms-1528348.pdf
View BVdb publication page



Liver Function and Risk of Type 2 Diabetes: Bidirectional Mendelian Randomization Study.

Diabetes
De Silva, N Maneka G NMG; Borges, Maria Carolina MC; Hingorani, Aroon D AD; Engmann, Jorgen J; Shah, Tina T; Zhang, Xiaoshuai X; Luan, Jian'an J; Langenberg, Claudia C; Wong, Andrew A; Kuh, Diana D; Chambers, John C JC; Zhang, Weihua W; Jarvelin, Marjo-Ritta MR; Sebert, Sylvain S; Auvinen, Juha J; , ; Gaunt, Tom R TR; Lawlor, Deborah A DA
Publication Date: 2019-08

Variant appearance in text: rs516246
PubMed Link: 31088856
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Current Diabetes Reports
Johnson, Matthew B MB; Cerosaletti, Karen K; Flanagan, Sarah E SE; Buckner, Jane H JH
Publication Date: 2019-03-19

Variant appearance in text: rs516246
PubMed Link: 30888520
Variant Present in the following documents:
  • Main text
  • 11892_2019_Article_1141.pdf
View BVdb publication page



FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects.

Gut Microbes
Turpin, Williams W; Bedrani, Larbi L; Espin-Garcia, Osvaldo O; Xu, Wei W; Silverberg, Mark S MS; Smith, Michelle I MI; Guttman, David S DS; Griffiths, Anne A; Moayyedi, Paul P; Panaccione, Remo R; Huynh, Hien H; Steinhart, Hillary H; Aumais, Guy G; Shestopaloff, Konstantin K; Dieleman, Levinus A LA; Turner, Dan D; Paterson, Andrew D AD; Croitoru, Kenneth K
Publication Date: 2018-07-04

Variant appearance in text: rs516246
PubMed Link: 29533703
Variant Present in the following documents:
  • Main text
View BVdb publication page



Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.

Frontiers In Endocrinology
Wallet, Mark A MA; Santostefano, Katherine E KE; Terada, Naohiro N; Brusko, Todd M TM
Publication Date: 2017

Variant appearance in text: rs516246
PubMed Link: 29093700
Variant Present in the following documents:
  • Main text
  • fendo-08-00276.pdf
View BVdb publication page



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: rs516246
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort.

Clinical And Translational Gastroenterology
Damas, Oriana M OM; Gomez, Lissette L; Quintero, Maria A MA; Rampersaud, Evadnie E; Slifer, Susan S; Beecham, Gary W GW; Kerman, David H DH; Deshpande, Amar R AR; Sussman, Daniel A DA; Abreu, Maria T MT; McCauley, Jacob L JL
Publication Date: 2017-04-13

Variant appearance in text: rs516246
PubMed Link: 28406493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Liver Enzymes and Risk of Ischemic Heart Disease and Type 2 Diabetes Mellitus: A Mendelian Randomization Study.

Scientific Reports
Liu, Junxi J; Au Yeung, Shiu Lun SL; Lin, Shi Lin SL; Leung, Gabriel M GM; Schooling, C Mary CM
Publication Date: 2016-12-20

Variant appearance in text: rs516246
PubMed Link: 27996050
Variant Present in the following documents:
  • Main text
  • srep38813.pdf
View BVdb publication page



Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease.

Gut
Imhann, Floris F; Vich Vila, Arnau A; Bonder, Marc Jan MJ; Fu, Jingyuan J; Gevers, Dirk D; Visschedijk, Marijn C MC; Spekhorst, Lieke M LM; Alberts, Rudi R; Franke, Lude L; van Dullemen, Hendrik M HM; Ter Steege, Rinze W F RWF; Huttenhower, Curtis C; Dijkstra, Gerard G; Xavier, Ramnik J RJ; Festen, Eleonora A M EAM; Wijmenga, Cisca C; Zhernakova, Alexandra A; Weersma, Rinse K RK
Publication Date: 2018-01

Variant appearance in text: rs516246
PubMed Link: 27802154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.

Plos Genetics
Sun, Wei W; Kechris, Katerina K; Jacobson, Sean S; Drummond, M Bradley MB; Hawkins, Gregory A GA; Yang, Jenny J; Chen, Ting-Huei TH; Quibrera, Pedro Miguel PM; Anderson, Wayne W; Barr, R Graham RG; Basta, Patricia V PV; Bleecker, Eugene R ER; Beaty, Terri T; Casaburi, Richard R; Castaldi, Peter P; Cho, Michael H MH; Comellas, Alejandro A; Crapo, James D JD; Criner, Gerard G; Demeo, Dawn D; Christenson, Stephanie A SA; Couper, David J DJ; Curtis, Jeffrey L JL; Doerschuk, Claire M CM; Freeman, Christine M CM; Gouskova, Natalia A NA; Han, MeiLan K MK; Hanania, Nicola A NA; Hansel, Nadia N NN; Hersh, Craig P CP; Hoffman, Eric A EA; Kaner, Robert J RJ; Kanner, Richard E RE; Kleerup, Eric C EC; Lutz, Sharon S; Martinez, Fernando J FJ; Meyers, Deborah A DA; Peters, Stephen P SP; Regan, Elizabeth A EA; Rennard, Stephen I SI; Scholand, Mary Beth MB; Silverman, Edwin K EK; Woodruff, Prescott G PG; O'Neal, Wanda K WK; Bowler, Russell P RP; , ; ,
Publication Date: 2016-08

Variant appearance in text: rs516246
PubMed Link: 27532455
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  • pgen.1006011.pdf
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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: rs516246
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-8.pdf
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Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology
Ye, Byong Duk BD; McGovern, Dermot P B DP
Publication Date: 2016-10

Variant appearance in text: rs516246
PubMed Link: 27156530
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Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.

Human Molecular Genetics
Orlando, Giulia G; Law, Philip J PJ; Palin, Kimmo K; Tuupanen, Sari S; Gylfe, Alexandra A; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Tanskanen, Tomas T; Kondelin, Johanna J; Kaasinen, Eevi E; Sarin, Antti-Pekka AP; Kaprio, Jaakko J; Eriksson, Johan G JG; Rissanen, Harri H; Knekt, Paul P; Pukkala, Eero E; Jousilahti, Pekka P; Salomaa, Veikko V; Ripatti, Samuli S; Palotie, Aarno A; Järvinen, Heikki H; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Böhm, Jan J; Mecklin, Jukka-Pekka JP; Al-Tassan, Nada A NA; Palles, Claire C; Martin, Lynn L; Barclay, Ella E; Tenesa, Albert A; Farrington, Susan S; Timofeeva, Maria N MN; Meyer, Brian F BF; Wakil, Salma M SM; Campbell, Harry H; Smith, Christopher G CG; Idziaszczyk, Shelley S; Maughan, Timothy S TS; Kaplan, Richard R; Kerr, Rachel R; Kerr, David D; Buchanan, Daniel D DD; Win, Aung Ko AK; Hopper, John J; Jenkins, Mark M; Lindor, Noralane M NM; Newcomb, Polly A PA; Gallinger, Steve S; Conti, David D; Schumacher, Fred F; Casey, Graham G; Taipale, Jussi J; Cheadle, Jeremy P JP; Dunlop, Malcolm G MG; Tomlinson, Ian P IP; Aaltonen, Lauri A LA; Houlston, Richard S RS
Publication Date: 2016-06-01

Variant appearance in text: rs516246
PubMed Link: 27005424
Variant Present in the following documents:
  • Main text
  • ddw087.pdf
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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics
Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T
Publication Date: 2016-01-07

Variant appearance in text: rs516246
PubMed Link: 26744305
Variant Present in the following documents:
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 2
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Genetics of Inflammatory Bowel Diseases.

Gastroenterology
McGovern, Dermot P B DP; Kugathasan, Subra S; Cho, Judy H JH
Publication Date: 2015-10

Variant appearance in text: rs516246
PubMed Link: 26255561
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  • Main text
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In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections.

Plos One
Mesbah-Uddin, Md M; Elango, Ramu R; Banaganapalli, Babajan B; Shaik, Noor Ahmad NA; Al-Abbasi, Fahad A FA
Publication Date: 2015

Variant appearance in text: rs516246
PubMed Link: 25786114
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Characterization of expression quantitative trait loci in the human colon.

Inflammatory Bowel Diseases
Singh, Tarjinder T; Levine, Adam P AP; Smith, Philip J PJ; Smith, Andrew M AM; Segal, Anthony W AW; Barrett, Jeffrey C JC
Publication Date: 2015-02

Variant appearance in text: rs516246
PubMed Link: 25569741
Variant Present in the following documents:
  • ibd-21-251.pdf
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Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.

Frontiers In Public Health
Keene, Keith L KL; Chen, Wei-Min WM; Chen, Fang F; Williams, Stephen R SR; Elkhatib, Stacey D SD; Hsu, Fang-Chi FC; Mychaleckyj, Josyf C JC; Doheny, Kimberly F KF; Pugh, Elizabeth W EW; Ling, Hua H; Laurie, Cathy C CC; Gogarten, Stephanie M SM; Madden, Ebony B EB; Worrall, Bradford B BB; Sale, Michele M MM
Publication Date: 2014

Variant appearance in text: rs516246
PubMed Link: 25147783
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  • Main text
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Reprograming of gut microbiome energy metabolism by the FUT2 Crohn's disease risk polymorphism.

The Isme Journal
Tong, Maomeng M; McHardy, Ian I; Ruegger, Paul P; Goudarzi, Maryam M; Kashyap, Purna C PC; Haritunians, Talin T; Li, Xiaoxiao X; Graeber, Thomas G TG; Schwager, Emma E; Huttenhower, Curtis C; Fornace, Albert J AJ; Sonnenburg, Justin L JL; McGovern, Dermot P B DP; Borneman, James J; Braun, Jonathan J
Publication Date: 2014-11

Variant appearance in text: rs516246
PubMed Link: 24781901
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  • Main text
  • ismej201464a.pdf
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Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.

Plos Genetics
Rueedi, Rico R; Ledda, Mirko M; Nicholls, Andrew W AW; Salek, Reza M RM; Marques-Vidal, Pedro P; Morya, Edgard E; Sameshima, Koichi K; Montoliu, Ivan I; Da Silva, Laeticia L; Collino, Sebastiano S; Martin, François-Pierre FP; Rezzi, Serge S; Steinbeck, Christoph C; Waterworth, Dawn M DM; Waeber, Gérard G; Vollenweider, Peter P; Beckmann, Jacques S JS; Le Coutre, Johannes J; Mooser, Vincent V; Bergmann, Sven S; Genick, Ulrich K UK; Kutalik, Zoltán Z
Publication Date: 2014-02

Variant appearance in text: rs516246
PubMed Link: 24586186
Variant Present in the following documents:
  • Main text
  • pgen.1004132.pdf
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Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine.

Gastroenterology
Kabakchiev, Boyko B; Silverberg, Mark S MS
Publication Date: 2013-06

Variant appearance in text: rs516246
PubMed Link: 23474282
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  • Main text
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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Nature
Jostins, Luke L; Ripke, Stephan S; Weersma, Rinse K RK; Duerr, Richard H RH; McGovern, Dermot P DP; Hui, Ken Y KY; Lee, James C JC; Schumm, L Philip LP; Sharma, Yashoda Y; Anderson, Carl A CA; Essers, Jonah J; Mitrovic, Mitja M; Ning, Kaida K; Cleynen, Isabelle I; Theatre, Emilie E; Spain, Sarah L SL; Raychaudhuri, Soumya S; Goyette, Philippe P; Wei, Zhi Z; Abraham, Clara C; Achkar, Jean-Paul JP; Ahmad, Tariq T; Amininejad, Leila L; Ananthakrishnan, Ashwin N AN; Andersen, Vibeke V; Andrews, Jane M JM; Baidoo, Leonard L; Balschun, Tobias T; Bampton, Peter A PA; Bitton, Alain A; Boucher, Gabrielle G; Brand, Stephan S; Büning, Carsten C; Cohain, Ariella A; Cichon, Sven S; D'Amato, Mauro M; De Jong, Dirk D; Devaney, Kathy L KL; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Ferguson, Lynnette R LR; Franchimont, Denis D; Fransen, Karin K; Gearry, Richard R; Georges, Michel M; Gieger, Christian C; Glas, Jürgen J; Haritunians, Talin T; Hart, Ailsa A; Hawkey, Chris C; Hedl, Matija M; Hu, Xinli X; Karlsen, Tom H TH; Kupcinskas, Limas L; Kugathasan, Subra S; Latiano, Anna A; Laukens, Debby D; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mahy, Gillian G; Mansfield, John J; Morgan, Angharad R AR; Mowat, Craig C; Newman, William W; Palmieri, Orazio O; Ponsioen, Cyriel Y CY; Potocnik, Uros U; Prescott, Natalie J NJ; Regueiro, Miguel M; Rotter, Jerome I JI; Russell, Richard K RK; Sanderson, Jeremy D JD; Sans, Miquel M; Satsangi, Jack J; Schreiber, Stefan S; Simms, Lisa A LA; Sventoraityte, Jurgita J; Targan, Stephan R SR; Taylor, Kent D KD; Tremelling, Mark M; Verspaget, Hein W HW; De Vos, Martine M; Wijmenga, Cisca C; Wilson, David C DC; Winkelmann, Juliane J; Xavier, Ramnik J RJ; Zeissig, Sebastian S; Zhang, Bin B; Zhang, Clarence K CK; Zhao, Hongyu H; , ; Silverberg, Mark S MS; Annese, Vito V; Hakonarson, Hakon H; Brant, Steven R SR; Radford-Smith, Graham G; Mathew, Christopher G CG; Rioux, John D JD; Schadt, Eric E EE; Daly, Mark J MJ; Franke, Andre A; Parkes, Miles M; Vermeire, Severine S; Barrett, Jeffrey C JC; Cho, Judy H JH
Publication Date: 2012-11-01

Variant appearance in text: rs516246
PubMed Link: 23128233
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Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

Nature Genetics
Chambers, John C JC; Zhang, Weihua W; Sehmi, Joban J; Li, Xinzhong X; Wass, Mark N MN; Van der Harst, Pim P; Holm, Hilma H; Sanna, Serena S; Kavousi, Maryam M; Baumeister, Sebastian E SE; Coin, Lachlan J LJ; Deng, Guohong G; Gieger, Christian C; Heard-Costa, Nancy L NL; Hottenga, Jouke-Jan JJ; Kühnel, Brigitte B; Kumar, Vinod V; Lagou, Vasiliki V; Liang, Liming L; Luan, Jian'an J; Vidal, Pedro Marques PM; Mateo Leach, Irene I; O'Reilly, Paul F PF; Peden, John F JF; Rahmioglu, Nilufer N; Soininen, Pasi P; Speliotes, Elizabeth K EK; Yuan, Xin X; Thorleifsson, Gudmar G; Alizadeh, Behrooz Z BZ; Atwood, Larry D LD; Borecki, Ingrid B IB; Brown, Morris J MJ; Charoen, Pimphen P; Cucca, Francesco F; Das, Debashish D; de Geus, Eco J C EJ; Dixon, Anna L AL; Döring, Angela A; Ehret, Georg G; Eyjolfsson, Gudmundur I GI; Farrall, Martin M; Forouhi, Nita G NG; Friedrich, Nele N; Goessling, Wolfram W; Gudbjartsson, Daniel F DF; Harris, Tamara B TB; Hartikainen, Anna-Liisa AL; Heath, Simon S; Hirschfield, Gideon M GM; Hofman, Albert A; Homuth, Georg G; Hyppönen, Elina E; Janssen, Harry L A HL; Johnson, Toby T; Kangas, Antti J AJ; Kema, Ido P IP; Kühn, Jens P JP; Lai, Sandra S; Lathrop, Mark M; Lerch, Markus M MM; Li, Yun Y; Liang, T Jake TJ; Lin, Jing-Ping JP; Loos, Ruth J F RJ; Martin, Nicholas G NG; Moffatt, Miriam F MF; Montgomery, Grant W GW; Munroe, Patricia B PB; Musunuru, Kiran K; Nakamura, Yusuke Y; O'Donnell, Christopher J CJ; Olafsson, Isleifur I; Penninx, Brenda W BW; Pouta, Anneli A; Prins, Bram P BP; Prokopenko, Inga I; Puls, Ralf R; Ruokonen, Aimo A; Savolainen, Markku J MJ; Schlessinger, David D; Schouten, Jeoffrey N L JN; Seedorf, Udo U; Sen-Chowdhry, Srijita S; Siminovitch, Katherine A KA; Smit, Johannes H JH; Spector, Timothy D TD; Tan, Wenting W; Teslovich, Tanya M TM; Tukiainen, Taru T; Uitterlinden, Andre G AG; Van der Klauw, Melanie M MM; Vasan, Ramachandran S RS; Wallace, Chris C; Wallaschofski, Henri H; Wichmann, H-Erich HE; Willemsen, Gonneke G; Würtz, Peter P; Xu, Chun C; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; , ; Abecasis, Goncalo R GR; Ahmadi, Kourosh R KR; Boomsma, Dorret I DI; Caulfield, Mark M; Cookson, William O WO; van Duijn, Cornelia M CM; Froguel, Philippe P; Matsuda, Koichi K; McCarthy, Mark I MI; Meisinger, Christa C; Mooser, Vincent V; Pietiläinen, Kirsi H KH; Schumann, Gunter G; Snieder, Harold H; Sternberg, Michael J E MJ; Stolk, Ronald P RP; Thomas, Howard C HC; Thorsteinsdottir, Unnur U; Uda, Manuela M; Waeber, Gérard G; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Watkins, Hugh H; Whitfield, John B JB; Witteman, Jacqueline C M JC; Wolffenbuttel, Bruce H R BH; Fox, Caroline S CS; Ala-Korpela, Mika M; Stefansson, Kari K; Vollenweider, Peter P; Völzke, Henry H; Schadt, Eric E EE; Scott, James J; Järvelin, Marjo-Riitta MR; Elliott, Paul P; Kooner, Jaspal S JS
Publication Date: 2011-10-16

Variant appearance in text: rs516246
PubMed Link: 22001757
Variant Present in the following documents:
  • Main text
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