CARD9 c.35G>T ;(p.S12I)

Variant ID: 9-139266496-C-A

NM_052813.4(CARD9):c.35G>T;(p.S12I)

This variant was identified in 45 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs4077515
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic and Epigenetic Etiology of Inflammatory Bowel Disease: An Update.

Genes
Jarmakiewicz-Czaja, Sara S; Zielińska, Magdalena M; Sokal, Aneta A; Filip, Rafał R
Publication Date: 2022-12-16

Variant appearance in text: rs4077515
PubMed Link: 36553655
Variant Present in the following documents:
  • Main text
  • genes-13-02388.pdf
View BVdb publication page



Triptolide promotes autophagy to inhibit mesangial cell proliferation in IgA nephropathy via the CARD9/p38 MAPK pathway.

Cell Proliferation
Zhao, Lu L; Lan, Zhixin Z; Peng, Liang L; Wan, Lili L; Liu, Di D; Tan, Xia X; Tang, Chengyuan C; Chen, Guochun G; Liu, Hong H
Publication Date: 2022-09

Variant appearance in text: rs4077515
PubMed Link: 35733381
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immune Checkpoint-Related Gene Polymorphisms Are Associated With Primary Immune Thrombocytopenia.

Frontiers In Immunology
Wang, Shuwen S; Zhang, Xiaoyu X; Leng, Shaoqiu S; Xu, Qirui Q; Sheng, Zi Z; Zhang, Yanqi Y; Yu, Jie J; Feng, Qi Q; Hou, Ming M; Peng, Jun J; Hu, Xiang X
Publication Date: 2020

Variant appearance in text: rs4077515
PubMed Link: 33584705
Variant Present in the following documents:
  • Main text
  • fimmu-11-615941.pdf
View BVdb publication page



IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank.

Kidney International Reports
Sukcharoen, Kittiya K; Sharp, Seth A SA; Thomas, Nicholas J NJ; Kimmitt, Robert A RA; Harrison, Jamie J; Bingham, Coralie C; Mozere, Monika M; Weedon, Michael N MN; Tyrrell, Jessica J; Barratt, Jonathan J; Gale, Daniel P DP; Oram, Richard A RA
Publication Date: 2020-10

Variant appearance in text: rs4077515
PubMed Link: 33102956
Variant Present in the following documents:
  • Main text
  • main.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: rs4077515
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Role of Adaptor Protein CARD9 in Colitis-Associated Cancer.

Molecular Therapy Oncolytics
Zhong, Xiaoming X; Chen, Bin B; Liu, Min M; Yang, Zhiwen Z
Publication Date: 2019-12-20

Variant appearance in text: rs4077515
PubMed Link: 31650020
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs4077515
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



[Trans-ethnic analysis of susceptibility variants in IgA nephropathy].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences
Kang, Y Q YQ; Zhang, Y M YM; Hou, P P; Shi, S F SF; Liu, L J LJ; Zhou, X J XJ; Lv, J C JC; Zhang, H H
Publication Date: 2019-06-18

Variant appearance in text: rs4077515
PubMed Link: 31209417
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Vav GEF Family: An Evolutionary and Functional Perspective.

Cells
Rodríguez-Fdez, Sonia S; Bustelo, Xosé R XR
Publication Date: 2019-05-16

Variant appearance in text: rs4077515
PubMed Link: 31100928
Variant Present in the following documents:
  • cells-08-00465.pdf
View BVdb publication page



CARD9 Signaling in Intestinal Immune Homeostasis and Oncogenesis.

Frontiers In Immunology
Hartjes, Lara L; Ruland, Jürgen J
Publication Date: 2019

Variant appearance in text: rs4077515
PubMed Link: 30906296
Variant Present in the following documents:
  • fimmu-10-00419.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs4077515
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Molecular insights into genome-wide association studies of chronic kidney disease-defining traits.

Nature Communications
Xu, Xiaoguang X; Eales, James M JM; Akbarov, Artur A; Guo, Hui H; Becker, Lorenz L; Talavera, David D; Ashraf, Fehzan F; Nawaz, Jabran J; Pramanik, Sanjeev S; Bowes, John J; Jiang, Xiao X; Dormer, John J; Denniff, Matthew M; Antczak, Andrzej A; Szulinska, Monika M; Wise, Ingrid I; Prestes, Priscilla R PR; Glyda, Maciej M; Bogdanski, Pawel P; Zukowska-Szczechowska, Ewa E; Berzuini, Carlo C; Woolf, Adrian S AS; Samani, Nilesh J NJ; Charchar, Fadi J FJ; Tomaszewski, Maciej M
Publication Date: 2018-11-22

Variant appearance in text: rs4077515
PubMed Link: 30467309
Variant Present in the following documents:
  • 41467_2018_Article_7260.pdf
View BVdb publication page



Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing.

Molecular Medicine Reports
Matalliotaki, Charoula C; Matalliotakis, Michail M; Zervou, Maria I MI; Trivli, Alexandra A; Matalliotakis, Ioannis I; Mavromatidis, George G; Spandidos, Demetrios A DA; Albertsen, Hans M HM; Chettier, Rakesh R; Ward, Kenneth K; Goulielmos, George N GN
Publication Date: 2018-12

Variant appearance in text: rs4077515
PubMed Link: 30272298
Variant Present in the following documents:
  • Main text
  • mmr-18-06-5053.pdf
View BVdb publication page



Spondyloarthritis, Acute Anterior Uveitis, and Fungi: Updating the Catterall-King Hypothesis.

Frontiers In Medicine
Laurence, Martin M; Asquith, Mark M; Rosenbaum, James T JT
Publication Date: 2018

Variant appearance in text: rs4077515
PubMed Link: 29675414
Variant Present in the following documents:
  • Main text
  • fmed-05-00080.pdf
View BVdb publication page



Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Genes And Immunity
Shaw, Kelly A KA; Cutler, David J DJ; Okou, David D; Dodd, Anne A; Aronow, Bruce J BJ; Haberman, Yael Y; Stevens, Christine C; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen S; Dubinsky, Marla C MC; Shapiro, Jason M JM; Otley, Anthony R AR; Daly, Mark M; Denson, Lee A LA; Kugathasan, Subra S; Zwick, Michael E ME
Publication Date: 2019-02

Variant appearance in text: rs4077515
PubMed Link: 29593342
Variant Present in the following documents:
  • Main text
  • 41435_2018_Article_15.pdf
View BVdb publication page



What Genetics Tells Us About the Pathogenesis of IgA Nephropathy: The Role of Immune Factors and Infection.

Kidney International Reports
Zhang, Yue-Miao YM; Zhou, Xu-Jie XJ; Zhang, Hong H
Publication Date: 2017-05

Variant appearance in text: rs4077515
PubMed Link: 29142962
Variant Present in the following documents:
  • Main text
View BVdb publication page



The interaction effect of rs4077515 and rs17019602 increases the susceptibility to IgA nephropathy.

Oncotarget
Wu, Changwei C; Li, Guisen G; Wang, Li L
Publication Date: 2017-09-29

Variant appearance in text: rs4077515
PubMed Link: 29100328
Variant Present in the following documents:
  • Main text
  • oncotarget-08-76492.pdf
View BVdb publication page



Risk alleles for IgA nephropathy-associated SNPs conferred completely opposite effects to idiopathic membranous nephropathy in Chinese Han.

Immunologic Research
Qin, Xiaosong X; Wang, Chen C; Lu, Guanting G; Peng, Mengle M; Cheng, Guixue G; Zhu, Hongquan H; Cao, Yun Y; Liu, Jianhua J; Li, Yuzhong Y; Cai, Hong H; Yang, Funing F; Liu, Yanhong Y; Chen, Xiaoyu X; Li, Liubing L; Wan, Nan N; Wen, Xiaoting X; Li, Shijun S; Nie, Ruili R; Qin, Dongchun D; Li, Yongzhe Y; Liu, Yong Y
Publication Date: 2017-10

Variant appearance in text: rs4077515
PubMed Link: 28929317
Variant Present in the following documents:
  • Main text
  • 12026_2017_Article_8947.pdf
View BVdb publication page



GenePANDA-a novel network-based gene prioritizing tool for complex diseases.

Scientific Reports
Yin, Tianshu T; Chen, Shu S; Wu, Xiaohui X; Tian, Weidong W
Publication Date: 2017-03-02

Variant appearance in text: rs4077515
PubMed Link: 28252032
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Cell
Chen, Lu L; Ge, Bing B; Casale, Francesco Paolo FP; Vasquez, Louella L; Kwan, Tony T; Garrido-Martín, Diego D; Watt, Stephen S; Yan, Ying Y; Kundu, Kousik K; Ecker, Simone S; Datta, Avik A; Richardson, David D; Burden, Frances F; Mead, Daniel D; Mann, Alice L AL; Fernandez, Jose Maria JM; Rowlston, Sophia S; Wilder, Steven P SP; Farrow, Samantha S; Shao, Xiaojian X; Lambourne, John J JJ; Redensek, Adriana A; Albers, Cornelis A CA; Amstislavskiy, Vyacheslav V; Ashford, Sofie S; Berentsen, Kim K; Bomba, Lorenzo L; Bourque, Guillaume G; Bujold, David D; Busche, Stephan S; Caron, Maxime M; Chen, Shu-Huang SH; Cheung, Warren W; Delaneau, Oliver O; Dermitzakis, Emmanouil T ET; Elding, Heather H; Colgiu, Irina I; Bagger, Frederik O FO; Flicek, Paul P; Habibi, Ehsan E; Iotchkova, Valentina V; Janssen-Megens, Eva E; Kim, Bowon B; Lehrach, Hans H; Lowy, Ernesto E; Mandoli, Amit A; Matarese, Filomena F; Maurano, Matthew T MT; Morris, John A JA; Pancaldi, Vera V; Pourfarzad, Farzin F; Rehnstrom, Karola K; Rendon, Augusto A; Risch, Thomas T; Sharifi, Nilofar N; Simon, Marie-Michelle MM; Sultan, Marc M; Valencia, Alfonso A; Walter, Klaudia K; Wang, Shuang-Yin SY; Frontini, Mattia M; Antonarakis, Stylianos E SE; Clarke, Laura L; Yaspo, Marie-Laure ML; Beck, Stephan S; Guigo, Roderic R; Rico, Daniel D; Martens, Joost H A JHA; Ouwehand, Willem H WH; Kuijpers, Taco W TW; Paul, Dirk S DS; Stunnenberg, Hendrik G HG; Stegle, Oliver O; Downes, Kate K; Pastinen, Tomi T; Soranzo, Nicole N
Publication Date: 2016-11-17

Variant appearance in text: rs4077515
PubMed Link: 27863251
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
Di Narzo, Antonio F AF; Peters, Lauren A LA; Argmann, Carmen C; Stojmirovic, Aleksandar A; Perrigoue, Jacqueline J; Li, Katherine K; Telesco, Shannon S; Kidd, Brian B; Walker, Jennifer J; Dudley, Joel J; Cho, Judy J; Schadt, Eric E EE; Kasarskis, Andrew A; Curran, Mark M; Dobrin, Radu R; Hao, Ke K
Publication Date: 2016-06-23

Variant appearance in text: rs4077515
PubMed Link: 27336838
Variant Present in the following documents:
  • Main text
  • ctg201634a.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs4077515
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GWAS reveal novel IgA nephropathy risk loci.

Oncotarget
Foo, Jia Nee JN; Liu, Jianjun J; Yu, Xue-Qing XQ
Publication Date: 2015-06-30

Variant appearance in text: CARD9: Ser12Ile
PubMed Link: 26119152
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci.

Bmc Genomics
Hulur, Imge I; Gamazon, Eric R ER; Skol, Andrew D AD; Xicola, Rosa M RM; Llor, Xavier X; Onel, Kenan K; Ellis, Nathan A NA; Kupfer, Sonia S SS
Publication Date: 2015-02-27

Variant appearance in text: rs4077515
PubMed Link: 25766683
Variant Present in the following documents:
  • Main text
  • 12864_2015_Article_1292.pdf
View BVdb publication page



Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Publication Date: 2014-11

Variant appearance in text: rs4077515
PubMed Link: 25305756
Variant Present in the following documents:
  • NIHMS630801-supplement-1.pdf
View BVdb publication page



Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.

Science (New York, N.Y.)
Fairfax, Benjamin P BP; Humburg, Peter P; Makino, Seiko S; Naranbhai, Vivek V; Wong, Daniel D; Lau, Evelyn E; Jostins, Luke L; Plant, Katharine K; Andrews, Robert R; McGee, Chris C; Knight, Julian C JC
Publication Date: 2014-03-07

Variant appearance in text: rs4077515
PubMed Link: 24604202
Variant Present in the following documents:
  • Main text
View BVdb publication page



A CARD9 polymorphism is associated with decreased likelihood of persistent conjugated hyperbilirubinemia in intestinal failure.

Plos One
Burghardt, Karolina Maria KM; Avinashi, Vishal V; Kosar, Christina C; Xu, Wei W; Wales, Paul W PW; Avitzur, Yaron Y; Muise, Aleixo A
Publication Date: 2014

Variant appearance in text: rs4077515
PubMed Link: 24465786
Variant Present in the following documents:
  • Main text
View BVdb publication page



A non-interventional study of the genetic polymorphisms of NOD2 associated with increased mortality in non-alcoholic liver transplant patients.

Bmc Gastroenterology
Saner, Fuat Hakan FH; Nowak, Knut K; Hoyer, Dieter D; Rath, Peter P; Canbay, Ali A; Paul, Andreas A; Koldehoff, Michael M; Elmaağaclı, Ahmet A
Publication Date: 2014-01-06

Variant appearance in text: rs4077515
PubMed Link: 24393249
Variant Present in the following documents:
  • Main text
  • 1471-230X-14-4.pdf
View BVdb publication page



Genetic comorbidities in Parkinson's disease.

Human Molecular Genetics
Nalls, Mike A MA; Saad, Mohamad M; Noyce, Alastair J AJ; Keller, Margaux F MF; Schrag, Anette A; Bestwick, Jonathan P JP; Traynor, Bryan J BJ; Gibbs, J Raphael JR; Hernandez, Dena G DG; Cookson, Mark R MR; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nick N; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; , ; , ; , ; ,
Publication Date: 2014-02-01

Variant appearance in text: rs4077515
PubMed Link: 24057672
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs4077515
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease.

Inflammatory Bowel Diseases
Wang, Ming-Hsi MH; Fiocchi, Claudio C; Ripke, Stephan S; Zhu, Xiaofeng X; Duerr, Richard H RH; Achkar, Jean-Paul JP
Publication Date: 2013-08

Variant appearance in text: rs4077515
PubMed Link: 23598818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

Nature Genetics
Scott, Robert A RA; Lagou, Vasiliki V; Welch, Ryan P RP; Wheeler, Eleanor E; Montasser, May E ME; Luan, Jian'an J; Mägi, Reedik R; Strawbridge, Rona J RJ; Rehnberg, Emil E; Gustafsson, Stefan S; Kanoni, Stavroula S; Rasmussen-Torvik, Laura J LJ; Yengo, Loïc L; Lecoeur, Cecile C; Shungin, Dmitry D; Sanna, Serena S; Sidore, Carlo C; Johnson, Paul C D PC; Jukema, J Wouter JW; Johnson, Toby T; Mahajan, Anubha A; Verweij, Niek N; Thorleifsson, Gudmar G; Hottenga, Jouke-Jan JJ; Shah, Sonia S; Smith, Albert V AV; Sennblad, Bengt B; Gieger, Christian C; Salo, Perttu P; Perola, Markus M; Timpson, Nicholas J NJ; Evans, David M DM; Pourcain, Beate St BS; Wu, Ying Y; Andrews, Jeanette S JS; Hui, Jennie J; Bielak, Lawrence F LF; Zhao, Wei W; Horikoshi, Momoko M; Navarro, Pau P; Isaacs, Aaron A; O'Connell, Jeffrey R JR; Stirrups, Kathleen K; Vitart, Veronique V; Hayward, Caroline C; Esko, Tõnu T; Mihailov, Evelin E; Fraser, Ross M RM; Fall, Tove T; Voight, Benjamin F BF; Raychaudhuri, Soumya S; Chen, Han H; Lindgren, Cecilia M CM; Morris, Andrew P AP; Rayner, Nigel W NW; Robertson, Neil N; Rybin, Denis D; Liu, Ching-Ti CT; Beckmann, Jacques S JS; Willems, Sara M SM; Chines, Peter S PS; Jackson, Anne U AU; Kang, Hyun Min HM; Stringham, Heather M HM; Song, Kijoung K; Tanaka, Toshiko T; Peden, John F JF; Goel, Anuj A; Hicks, Andrew A AA; An, Ping P; Müller-Nurasyid, Martina M; Franco-Cereceda, Anders A; Folkersen, Lasse L; Marullo, Letizia L; Jansen, Hanneke H; Oldehinkel, Albertine J AJ; Bruinenberg, Marcel M; Pankow, James S JS; North, Kari E KE; Forouhi, Nita G NG; Loos, Ruth J F RJ; Edkins, Sarah S; Varga, Tibor V TV; Hallmans, Göran G; Oksa, Heikki H; Antonella, Mulas M; Nagaraja, Ramaiah R; Trompet, Stella S; Ford, Ian I; Bakker, Stephan J L SJ; Kong, Augustine A; Kumari, Meena M; Gigante, Bruna B; Herder, Christian C; Munroe, Patricia B PB; Caulfield, Mark M; Antti, Jula J; Mangino, Massimo M; Small, Kerrin K; Miljkovic, Iva I; Liu, Yongmei Y; Atalay, Mustafa M; Kiess, Wieland W; James, Alan L AL; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Palmer, Colin N A CN; Doney, Alex S F AS; Willemsen, Gonneke G; Smit, Johannes H JH; Campbell, Susan S; Polasek, Ozren O; Bonnycastle, Lori L LL; Hercberg, Serge S; Dimitriou, Maria M; Bolton, Jennifer L JL; Fowkes, Gerard R GR; Kovacs, Peter P; Lindström, Jaana J; Zemunik, Tatijana T; Bandinelli, Stefania S; Wild, Sarah H SH; Basart, Hanneke V HV; Rathmann, Wolfgang W; Grallert, Harald H; , ; Maerz, Winfried W; Kleber, Marcus E ME; Boehm, Bernhard O BO; Peters, Annette A; Pramstaller, Peter P PP; Province, Michael A MA; Borecki, Ingrid B IB; Hastie, Nicholas D ND; Rudan, Igor I; Campbell, Harry H; Watkins, Hugh H; Farrall, Martin M; Stumvoll, Michael M; Ferrucci, Luigi L; Waterworth, Dawn M DM; Bergman, Richard N RN; Collins, Francis S FS; Tuomilehto, Jaakko J; Watanabe, Richard M RM; de Geus, Eco J C EJ; Penninx, Brenda W BW; Hofman, Albert A; Oostra, Ben A BA; Psaty, Bruce M BM; Vollenweider, Peter P; Wilson, James F JF; Wright, Alan F AF; Hovingh, G Kees GK; Metspalu, Andres A; Uusitupa, Matti M; Magnusson, Patrik K E PK; Kyvik, Kirsten O KO; Kaprio, Jaakko J; Price, Jackie F JF; Dedoussis, George V GV; Deloukas, Panos P; Meneton, Pierre P; Lind, Lars L; Boehnke, Michael M; Shuldiner, Alan R AR; van Duijn, Cornelia M CM; Morris, Andrew D AD; Toenjes, Anke A; Peyser, Patricia A PA; Beilby, John P JP; Körner, Antje A; Kuusisto, Johanna J; Laakso, Markku M; Bornstein, Stefan R SR; Schwarz, Peter E H PE; Lakka, Timo A TA; Rauramaa, Rainer R; Adair, Linda S LS; Smith, George Davey GD; Spector, Tim D TD; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Gudnason, Vilmundur V; Kivimaki, Mika M; Hingorani, Aroon A; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Boomsma, Dorret I DI; Stefansson, Kari K; van der Harst, Pim P; Dupuis, Josée J; Pedersen, Nancy L NL; Sattar, Naveed N; Harris, Tamara B TB; Cucca, Francesco F; Ripatti, Samuli S; Salomaa, Veikko V; Mohlke, Karen L KL; Balkau, Beverley B; Froguel, Philippe P; Pouta, Anneli A; Jarvelin, Marjo-Riitta MR; Wareham, Nicholas J NJ; Bouatia-Naji, Nabila N; McCarthy, Mark I MI; Franks, Paul W PW; Meigs, James B JB; Teslovich, Tanya M TM; Florez, Jose C JC; Langenberg, Claudia C; Ingelsson, Erik E; Prokopenko, Inga I; Barroso, Inês I
Publication Date: 2012-09

Variant appearance in text: rs4077515
PubMed Link: 22885924
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  • ukmss-49338.pdf
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Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.

Plos Genetics
Zou, Fanggeng F; Chai, High Seng HS; Younkin, Curtis S CS; Allen, Mariet M; Crook, Julia J; Pankratz, V Shane VS; Carrasquillo, Minerva M MM; Rowley, Christopher N CN; Nair, Asha A AA; Middha, Sumit S; Maharjan, Sooraj S; Nguyen, Thuy T; Ma, Li L; Malphrus, Kimberly G KG; Palusak, Ryan R; Lincoln, Sarah S; Bisceglio, Gina G; Georgescu, Constantin C; Kouri, Naomi N; Kolbert, Christopher P CP; Jen, Jin J; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Farrer, Lindsay A LA; Schellenberg, Gerard D GD; , ; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N
Publication Date: 2012

Variant appearance in text: rs4077515
PubMed Link: 22685416
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IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

Journal Of Immunology (Baltimore, Md. : 1950)
Hedl, Matija M; Abraham, Clara C
Publication Date: 2012-06-01

Variant appearance in text: rs4077515
PubMed Link: 22544929
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Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

Journal Of Hepatology
Folseraas, Trine T; Melum, Espen E; Rausch, Philipp P; Juran, Brian D BD; Ellinghaus, Eva E; Shiryaev, Alexey A; Laerdahl, Jon K JK; Ellinghaus, David D; Schramm, Christoph C; Weismüller, Tobias J TJ; Gotthardt, Daniel Nils DN; Hov, Johannes Roksund JR; Clausen, Ole Petter OP; Weersma, Rinse K RK; Janse, Marcel M; Boberg, Kirsten Muri KM; Björnsson, Einar E; Marschall, Hanns-Ulrich HU; Cleynen, Isabelle I; Rosenstiel, Philip P; Holm, Kristian K; Teufel, Andreas A; Rust, Christian C; Gieger, Christian C; Wichmann, H-Erich HE; Bergquist, Annika A; Ryu, Euijung E; Ponsioen, Cyriel Y CY; Runz, Heiko H; Sterneck, Martina M; Vermeire, Severine S; Beuers, Ulrich U; Wijmenga, Cisca C; Schrumpf, Erik E; Manns, Michael P MP; Lazaridis, Konstantinos N KN; Schreiber, Stefan S; Baines, John F JF; Franke, Andre A; Karlsen, Tom H TH
Publication Date: 2012-08

Variant appearance in text: rs4077515
PubMed Link: 22521342
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Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.

Nature Genetics
Fairfax, Benjamin P BP; Makino, Seiko S; Radhakrishnan, Jayachandran J; Plant, Katharine K; Leslie, Stephen S; Dilthey, Alexander A; Ellis, Peter P; Langford, Cordelia C; Vannberg, Fredrik O FO; Knight, Julian C JC
Publication Date: 2012-03-25

Variant appearance in text: rs4077515
PubMed Link: 22446964
Variant Present in the following documents:
  • NIHMS40993-supplement-1.pdf
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Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9.

Hepatology (Baltimore, Md.)
Janse, Marcel M; Lamberts, Laetitia E LE; Franke, Lude L; Raychaudhuri, Soumya S; Ellinghaus, Eva E; Muri Boberg, Kirsten K; Melum, Espen E; Folseraas, Trine T; Schrumpf, Erik E; Bergquist, Annika A; Björnsson, Einar E; Fu, Jingyuan J; Jan Westra, Harm H; Groen, Harry J M HJ; Fehrmann, Rudolf S N RS; Smolonska, Joanna J; van den Berg, Leonard H LH; Ophoff, Roel A RA; Porte, Robert J RJ; Weismüller, Tobias J TJ; Wedemeyer, Jochen J; Schramm, Christoph C; Sterneck, Martina M; Günther, Rainer R; Braun, Felix F; Vermeire, Severine S; Henckaerts, Liesbet L; Wijmenga, Cisca C; Ponsioen, Cyriel Y CY; Schreiber, Stefan S; Karlsen, Tom H TH; Franke, Andre A; Weersma, Rinse K RK
Publication Date: 2011-06

Variant appearance in text: rs4077515
PubMed Link: 21425313
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An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

Plos One
Juyal, Garima G; Prasad, Pushplata P; Senapati, Sabyasachi S; Midha, Vandana V; Sood, Ajit A; Amre, Devendra D; Juyal, Ramesh C RC; BK, Thelma T
Publication Date: 2011-01-31

Variant appearance in text: rs4077515
PubMed Link: 21304977
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  • pone.0016565.pdf
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Nature Genetics
Franke, Andre A; McGovern, Dermot P B DP; Barrett, Jeffrey C JC; Wang, Kai K; Radford-Smith, Graham L GL; Ahmad, Tariq T; Lees, Charlie W CW; Balschun, Tobias T; Lee, James J; Roberts, Rebecca R; Anderson, Carl A CA; Bis, Joshua C JC; Bumpstead, Suzanne S; Ellinghaus, David D; Festen, Eleonora M EM; Georges, Michel M; Green, Todd T; Haritunians, Talin T; Jostins, Luke L; Latiano, Anna A; Mathew, Christopher G CG; Montgomery, Grant W GW; Prescott, Natalie J NJ; Raychaudhuri, Soumya S; Rotter, Jerome I JI; Schumm, Philip P; Sharma, Yashoda Y; Simms, Lisa A LA; Taylor, Kent D KD; Whiteman, David D; Wijmenga, Cisca C; Baldassano, Robert N RN; Barclay, Murray M; Bayless, Theodore M TM; Brand, Stephan S; Büning, Carsten C; Cohen, Albert A; Colombel, Jean-Frederick JF; Cottone, Mario M; Stronati, Laura L; Denson, Ted T; De Vos, Martine M; D'Inca, Renata R; Dubinsky, Marla M; Edwards, Cathryn C; Florin, Tim T; Franchimont, Denis D; Gearry, Richard R; Glas, Jürgen J; Van Gossum, Andre A; Guthery, Stephen L SL; Halfvarson, Jonas J; Verspaget, Hein W HW; Hugot, Jean-Pierre JP; Karban, Amir A; Laukens, Debby D; Lawrance, Ian I; Lemann, Marc M; Levine, Arie A; Libioulle, Cecile C; Louis, Edouard E; Mowat, Craig C; Newman, William W; Panés, Julián J; Phillips, Anne A; Proctor, Deborah D DD; Regueiro, Miguel M; Russell, Richard R; Rutgeerts, Paul P; Sanderson, Jeremy J; Sans, Miquel M; Seibold, Frank F; Steinhart, A Hillary AH; Stokkers, Pieter C F PC; Torkvist, Leif L; Kullak-Ublick, Gerd G; Wilson, David D; Walters, Thomas T; Targan, Stephan R SR; Brant, Steven R SR; Rioux, John D JD; D'Amato, Mauro M; Weersma, Rinse K RK; Kugathasan, Subra S; Griffiths, Anne M AM; Mansfield, John C JC; Vermeire, Severine S; Duerr, Richard H RH; Silverberg, Mark S MS; Satsangi, Jack J; Schreiber, Stefan S; Cho, Judy H JH; Annese, Vito V; Hakonarson, Hakon H; Daly, Mark J MJ; Parkes, Miles M
Publication Date: 2010-12

Variant appearance in text: rs4077515
PubMed Link: 21102463
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Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene.

Genes And Immunity
Pointon, J J JJ; Harvey, D D; Karaderi, T T; Appleton, L H LH; Farrar, C C; Stone, M A MA; Sturrock, R D RD; Brown, M A MA; Wordsworth, B P BP
Publication Date: 2010-09

Variant appearance in text: rs4077515
PubMed Link: 20463747
Variant Present in the following documents:
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  • ukmss-28653.pdf
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Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

Nature Genetics
McGovern, Dermot P B DP; Gardet, Agnès A; Törkvist, Leif L; Goyette, Philippe P; Essers, Jonah J; Taylor, Kent D KD; Neale, Benjamin M BM; Ong, Rick T H RT; Lagacé, Caroline C; Li, Chun C; Green, Todd T; Stevens, Christine R CR; Beauchamp, Claudine C; Fleshner, Phillip R PR; Carlson, Marie M; D'Amato, Mauro M; Halfvarson, Jonas J; Hibberd, Martin L ML; Lördal, Mikael M; Padyukov, Leonid L; Andriulli, Angelo A; Colombo, Elisabetta E; Latiano, Anna A; Palmieri, Orazio O; Bernard, Edmond-Jean EJ; Deslandres, Colette C; Hommes, Daan W DW; de Jong, Dirk J DJ; Stokkers, Pieter C PC; Weersma, Rinse K RK; , ; Sharma, Yashoda Y; Silverberg, Mark S MS; Cho, Judy H JH; Wu, Jing J; Roeder, Kathryn K; Brant, Steven R SR; Schumm, L Phillip LP; Duerr, Richard H RH; Dubinsky, Marla C MC; Glazer, Nicole L NL; Haritunians, Talin T; Ippoliti, Andy A; Melmed, Gil Y GY; Siscovick, David S DS; Vasiliauskas, Eric A EA; Targan, Stephan R SR; Annese, Vito V; Wijmenga, Cisca C; Pettersson, Sven S; Rotter, Jerome I JI; Xavier, Ramnik J RJ; Daly, Mark J MJ; Rioux, John D JD; Seielstad, Mark M
Publication Date: 2010-04

Variant appearance in text: rs4077515
PubMed Link: 20228799
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Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

American Journal Of Human Genetics
Zhernakova, Alexandra A; Festen, Eleanora M EM; Franke, Lude L; Trynka, Gosia G; van Diemen, Cleo C CC; Monsuur, Alienke J AJ; Bevova, Marianna M; Nijmeijer, Rian M RM; van 't Slot, Ruben R; Heijmans, Roel R; Boezen, H Marike HM; van Heel, David A DA; van Bodegraven, Adriaan A AA; Stokkers, Pieter C F PC; Wijmenga, Cisca C; Crusius, J Bart A JB; Weersma, Rinse K RK
Publication Date: 2008-05

Variant appearance in text: rs4077515
PubMed Link: 18439550
Variant Present in the following documents:
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