Variant ID: 16-50756881-A-G

NM_022162.1(NOD2):c.2798+265A>G

This variant was identified in 45 publications




Publications:


GWEHS: A Genome-Wide Effect Sizes and Heritability Screener.

Genes
E López-Cortegano, A Caballero
Publication Date: 2019-07-24

Variant appearance in text: rs2076756
PMID: 31344961
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Genetic Architecture of Adaptive Immune System Identifies Key Immune Regulators.

Cell Reports
V Lagou, JE Garcia-Perez, I Smets, L Van Horebeek, M Vandebergh, L Chen, K Mallants, T Prezzemolo, K Hilven, S Humblet-Baron, M Moisse, P Van Damme, G Boeckxstaens, P Bowness, B Dubois, J Dooley, A Liston, A Goris
Publication Date: 2018-10-16

Variant appearance in text: rs2076756
PMID: 30332657
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Impaired granulocyte-macrophage colony-stimulating factor bioactivity accelerates surgical recurrence in ileal Crohn's disease.

World Journal Of Gastroenterology
G Gathungu, Y Zhang, X Tian, E Bonkowski, L Rowehl, J Krumsiek, B Nix, C Chalk, B Trapnell, W Zhu, R Newberry, L Denson, E Li
Publication Date: 2018-02-07

Variant appearance in text: rs2076756
PMID: 29434451
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NOD2 Genetic Variants Predispose One of Two Familial Adenomatous Polyposis Siblings to Pouchitis Through Microbiome Dysbiosis.

Journal Of Crohn'S & Colitis
KM Schieffer, JR Wright, LR Harris, S Deiling, Z Yang, R Lamendella, GS Yochum, WA Koltun
Publication Date: 2017-10-27

Variant appearance in text: rs2076756
PMID: 28633443
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Inflammatory pathway genes associated with inter-individual variability in the trajectories of morning and evening fatigue in patients receiving chemotherapy.

Cytokine
F Wright, M Hammer, SM Paul, BE Aouizerat, KM Kober, YP Conley, BA Cooper, LB Dunn, JD Levine, G DEramo Melkus, C Miaskowski
Publication Date: 2017-03

Variant appearance in text: rs2076756
PMID: 28110208
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Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Scientific Reports
J Ostrowski, A Paziewska, I Lazowska, F Ambrozkiewicz, K Goryca, M Kulecka, T Rawa, J Karczmarski, M Dabrowska, N Zeber-Lubecka, R Tomecki, A Kluska, A Balabas, M Piatkowska, K Paczkowska, J Kierkus, P Socha, M Lodyga, G Rydzewska, M Klopocka, G Mierzwa, B Iwanczak, E Krzesiek, K Bak-Drabik, J Walkowiak, B Klincewicz, P Radwan, U Grzybowska-Chlebowczyk, P Landowski, A Jankowska, B Korczowski, T Starzynska, P Albrecht, M Mikula
Publication Date: 2016-12-23

Variant appearance in text: rs2076756
PMID: 28008999
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Combining Multiple Hypothesis Testing with Machine Learning Increases the Statistical Power of Genome-wide Association Studies.

Scientific Reports
B Mieth, M Kloft, JA Rodríguez, S Sonnenburg, R Vobruba, C Morcillo-Suárez, X Farré, UM Marigorta, E Fehr, T Dickhaus, G Blanchard, D Schunk, A Navarro, KR Müller
Publication Date: 2016-11-28

Variant appearance in text: rs2076756
PMID: 27892471
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Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records.

Frontiers In Genetics
NA Restrepo, M Butkiewicz, JA McGrath, DC Crawford
Publication Date: 2016

Variant appearance in text: rs2076756
PMID: 27812365
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Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
AF Di Narzo, LA Peters, C Argmann, A Stojmirovic, J Perrigoue, K Li, S Telesco, B Kidd, J Walker, J Dudley, J Cho, EE Schadt, A Kasarskis, M Curran, R Dobrin, K Hao
Publication Date: 2016-06-23

Variant appearance in text: rs2076756
PMID: 27336838
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Assessing statistical significance in multivariable genome wide association analysis.

Bioinformatics (Oxford, England)
L Buzdugan, M Kalisch, A Navarro, D Schunk, E Fehr, P Bühlmann
Publication Date: 2016-07-01

Variant appearance in text: rs2076756
PMID: 27153677
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Retrospective Binary-Trait Association Test Elucidates Genetic Architecture of Crohn Disease.

American Journal Of Human Genetics
D Jiang, S Zhong, MS McPeek
Publication Date: 2016-02-04

Variant appearance in text: rs2076756
PMID: 26833331
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Exploiting SNP correlations within random forest for genome-wide association studies.

Plos One
V Botta, G Louppe, P Geurts, L Wehenkel
Publication Date: 2014

Variant appearance in text: rs2076756
PMID: 24695491
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NOD2 is dispensable for ATG16L1 deficiency-mediated resistance to urinary tract infection.

Autophagy
C Wang, X Yuan, E Ma, GR Mendonsa, TS Plantinga, LA Kiemeney, SH Vermeulen, IU Mysorekar
Publication Date: 2014-02

Variant appearance in text: rs2076756
PMID: 24384785
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Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder.

Nature Communications
T Lencz, S Guha, C Liu, J Rosenfeld, S Mukherjee, P DeRosse, M John, L Cheng, C Zhang, JA Badner, M Ikeda, N Iwata, S Cichon, M Rietschel, MM Nöthen, AT Cheng, C Hodgkinson, Q Yuan, JM Kane, AT Lee, A Pisanté, PK Gregersen, I Pe'er, AK Malhotra, D Goldman, A Darvasi
Publication Date: 2013

Variant appearance in text: rs2076756
PMID: 24253340
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Evidence of expression variation and allelic imbalance in Crohn's disease susceptibility genes NOD2 and ATG16L1 in human dendritic cells.

Gene
J Hu, I Peter
Publication Date: 2013-09-25

Variant appearance in text: rs2076756
PMID: 23850724
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An efficient algorithm to perform multiple testing in epistasis screening.

Bmc Bioinformatics
F Van Lishout, JM Mahachie John, ES Gusareva, V Urrea, I Cleynen, E Théâtre, B Charloteaux, ML Calle, L Wehenkel, K Van Steen
Publication Date: 2013-04-24

Variant appearance in text: rs2076756
PMID: 23617239
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Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.

Genes And Immunity
W Zhang, KY Hui, A Gusev, N Warner, SM Ng, J Ferguson, M Choi, A Burberry, C Abraham, L Mayer, RJ Desnick, CJ Cardinale, H Hakonarson, M Waterman, Y Chowers, A Karban, SR Brant, MS Silverberg, PK Gregersen, S Katz, RP Lifton, H Zhao, G Nuñez, I Pe'er, I Peter, JH Cho
Publication Date: 2013

Variant appearance in text: rs2076756
PMID: 23615072
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A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease.

Inflammatory Bowel Diseases
MH Wang, C Fiocchi, S Ripke, X Zhu, RH Duerr, JP Achkar
Publication Date: 2013-08

Variant appearance in text: rs2076756
PMID: 23598818
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Periodontal disease immunology: 'double indemnity' in protecting the host.

Periodontology 2000
JL Ebersole, DR Dawson, LA Morford, R Peyyala, CS Miller, OA Gonzaléz
Publication Date: 2013-06

Variant appearance in text: rs2076756
PMID: 23574466
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A rapid association test procedure robust under different genetic models accounting for population stratification.

Human Heredity
W Chen, X Chen, KJ Archer, N Liu, Q Li, Z Zhao, S Sun, G Gao
Publication Date: 2013

Variant appearance in text: rs2076756
PMID: 23571404
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Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.

American Journal Of Human Genetics
Q Zhu, D Ge, EL Heinzen, SP Dickson, TJ Urban, M Zhu, JM Maia, M He, Q Zhao, KV Shianna, DB Goldstein
Publication Date: 2012-09-07

Variant appearance in text: rs2076756
PMID: 22939045
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Presence of multiple independent effects in risk loci of common complex human diseases.

American Journal Of Human Genetics
X Ke
Publication Date: 2012-07-13

Variant appearance in text: rs2076756
PMID: 22770979
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Prevalence of genetic variants associated with inflammatory bowel disease in a healthy First Nations cohort.

Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
TB Murdoch, CN Bernstein, H El-Gabalawy, JM Stempak, M Sargent, B Elias, W Xu, S Pathan, MS Silverberg
Publication Date: 2012-05-15

Variant appearance in text: rs2076756
PMID: 22496383
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A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.

Plos Genetics
EE Kenny, I Pe'er, A Karban, L Ozelius, AA Mitchell, SM Ng, M Erazo, H Ostrer, C Abraham, MT Abreu, G Atzmon, N Barzilai, SR Brant, S Bressman, ER Burns, Y Chowers, LN Clark, A Darvasi, D Doheny, RH Duerr, R Eliakim, N Giladi, PK Gregersen, H Hakonarson, MR Jones, K Marder, DP McGovern, J Mulle, A Orr-Urtreger, DD Proctor, A Pulver, JI Rotter, MS Silverberg, T Ullman, ST Warren, M Waterman, W Zhang, A Bergman, L Mayer, S Katz, RJ Desnick, JH Cho, I Peter
Publication Date: 2012

Variant appearance in text: rs2076756
PMID: 22412388
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Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease.

American Journal Of Human Genetics
H Elding, W Lau, DM Swallow, N Maniatis
Publication Date: 2011-12-09

Variant appearance in text: rs2076756
PMID: 22152681
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A novel bayesian graphical model for genome-wide multi-SNP association mapping.

Genetic Epidemiology
Y Zhang
Publication Date: 2012-01

Variant appearance in text: rs2076756
PMID: 22127647
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Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

Bmc Medical Genetics
I Peter, AA Mitchell, L Ozelius, M Erazo, J Hu, D Doheny, MT Abreu, DH Present, T Ullman, K Benkov, BI Korelitz, L Mayer, RJ Desnick,
Publication Date: 2011-05-06

Variant appearance in text: rs2076756
PMID: 21548950
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Improved risk prediction for Crohn's disease with a multi-locus approach.

Human Molecular Genetics
J Kang, S Kugathasan, M Georges, H Zhao, JH Cho,
Publication Date: 2011-06-15

Variant appearance in text: rs2076756
PMID: 21427131
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The role of genetics in IBS.

Gastroenterology Clinics Of North America
YA Saito
Publication Date: 2011-03

Variant appearance in text: rs2076756
PMID: 21333900
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The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants.

Plos One
J Glas, J Seiderer, C Tillack, S Pfennig, F Beigel, M Jürgens, T Olszak, RP Laubender, M Weidinger, B Müller-Myhsok, B Göke, T Ochsenkühn, P Lohse, J Diegelmann, D Czamara, S Brand
Publication Date: 2010-12-30

Variant appearance in text: rs2076756
PMID: 21209938
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Detecting epistatic SNPs associated with complex diseases via a Bayesian classification tree search method.

Annals Of Human Genetics
M Chen, J Cho, H Zhao
Publication Date: 2011-01

Variant appearance in text: rs2076756
PMID: 21121902
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Nature Genetics
A Franke, DP McGovern, JC Barrett, K Wang, GL Radford-Smith, T Ahmad, CW Lees, T Balschun, J Lee, R Roberts, CA Anderson, JC Bis, S Bumpstead, D Ellinghaus, EM Festen, M Georges, T Green, T Haritunians, L Jostins, A Latiano, CG Mathew, GW Montgomery, NJ Prescott, S Raychaudhuri, JI Rotter, P Schumm, Y Sharma, LA Simms, KD Taylor, D Whiteman, C Wijmenga, RN Baldassano, M Barclay, TM Bayless, S Brand, C Büning, A Cohen, JF Colombel, M Cottone, L Stronati, T Denson, M De Vos, R D'Inca, M Dubinsky, C Edwards, T Florin, D Franchimont, R Gearry, J Glas, A Van Gossum, SL Guthery, J Halfvarson, HW Verspaget, JP Hugot, A Karban, D Laukens, I Lawrance, M Lemann, A Levine, C Libioulle, E Louis, C Mowat, W Newman, J Panés, A Phillips, DD Proctor, M Regueiro, R Russell, P Rutgeerts, J Sanderson, M Sans, F Seibold, AH Steinhart, PC Stokkers, L Torkvist, G Kullak-Ublick, D Wilson, T Walters, SR Targan, SR Brant, JD Rioux, M D'Amato, RK Weersma, S Kugathasan, AM Griffiths, JC Mansfield, S Vermeire, RH Duerr, MS Silverberg, J Satsangi, S Schreiber, JH Cho, V Annese, H Hakonarson, MJ Daly, M Parkes
Publication Date: 2010-12

Variant appearance in text: rs2076756
PMID: 21102463
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs2076756
PMID: 20876667
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Synthetic associations in the context of genome-wide association scan signals.

Human Molecular Genetics
G Orozco, JC Barrett, E Zeggini
Publication Date: 2010-10-15

Variant appearance in text: rs2076756
PMID: 20805105
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On safari to Random Jungle: a fast implementation of Random Forests for high-dimensional data.

Bioinformatics (Oxford, England)
DF Schwarz, IR König, A Ziegler
Publication Date: 2010-07-15

Variant appearance in text: rs2076756
PMID: 20505004
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Detecting gene-gene interactions that underlie human diseases.

Nature Reviews. Genetics
HJ Cordell
Publication Date: 2009-06

Variant appearance in text: rs2076756
PMID: 19434077
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Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

Human Genetics
MG Hong, Y Pawitan, PK Magnusson, JA Prince
Publication Date: 2009-08

Variant appearance in text: rs2076756
PMID: 19408013
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Genotyping and inflated type I error rate in genome-wide association case/control studies.

Bmc Bioinformatics
JN Sampson, H Zhao
Publication Date: 2009-02-23

Variant appearance in text: rs2076756
PMID: 19236714
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Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.

Nature Genetics
S Kugathasan, RN Baldassano, JP Bradfield, PM Sleiman, M Imielinski, SL Guthery, S Cucchiara, CE Kim, EC Frackelton, K Annaiah, JT Glessner, E Santa, T Willson, AW Eckert, E Bonkowski, JL Shaner, RM Smith, FG Otieno, N Peterson, DJ Abrams, RM Chiavacci, R Grundmeier, P Mamula, G Tomer, DA Piccoli, DS Monos, V Annese, LA Denson, SF Grant, H Hakonarson
Publication Date: 2008-10

Variant appearance in text: rs2076756
PMID: 18758464
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Systematic association mapping identifies NELL1 as a novel IBD disease gene.

Plos One
A Franke, J Hampe, P Rosenstiel, C Becker, F Wagner, R Häsler, RD Little, K Huse, A Ruether, T Balschun, M Wittig, A Elsharawy, G Mayr, M Albrecht, NJ Prescott, CM Onnie, H Fournier, T Keith, U Radelof, M Platzer, CG Mathew, M Stoll, M Krawczak, P Nürnberg, S Schreiber
Publication Date: 2007-08-08

Variant appearance in text: rs2076756
PMID: 17684544
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Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.

Gut
RN Baldassano, JP Bradfield, DS Monos, CE Kim, JT Glessner, T Casalunovo, EC Frackelton, FG Otieno, S Kanterakis, JL Shaner, RM Smith, AW Eckert, LJ Robinson, CC Onyiah, DJ Abrams, RM Chiavacci, R Skraban, M Devoto, SF Grant, H Hakonarson
Publication Date: 2007-08

Variant appearance in text: rs2076756
PMID: 17625155
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Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
RN Baldassano, JP Bradfield, DS Monos, CE Kim, JT Glessner, T Casalunovo, EC Frackelton, FG Otieno, S Kanterakis, JL Shaner, RM Smith, AW Eckert, LJ Robinson, CC Onyiah, DJ Abrams, RM Chiavacci, R Skraban, M Devoto, SF Grant, H Hakonarson
Publication Date: 2007-08

Variant appearance in text: rs2076756
PMID: 17618837
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Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.

Nature Genetics
JD Rioux, RJ Xavier, KD Taylor, MS Silverberg, P Goyette, A Huett, T Green, P Kuballa, MM Barmada, LW Datta, YY Shugart, AM Griffiths, SR Targan, AF Ippoliti, EJ Bernard, L Mei, DL Nicolae, M Regueiro, LP Schumm, AH Steinhart, JI Rotter, RH Duerr, JH Cho, MJ Daly, SR Brant
Publication Date: 2007-05

Variant appearance in text: rs2076756
PMID: 17435756
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A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

Science (New York, N.Y.)
RH Duerr, KD Taylor, SR Brant, JD Rioux, MS Silverberg, MJ Daly, AH Steinhart, C Abraham, M Regueiro, A Griffiths, T Dassopoulos, A Bitton, H Yang, S Targan, LW Datta, EO Kistner, LP Schumm, AT Lee, PK Gregersen, MM Barmada, JI Rotter, DL Nicolae, JH Cho
Publication Date: 2006-12-01

Variant appearance in text: rs2076756
PMID: 17068223
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Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respiratory Research
M Wjst, J Altmüller, T Faus-Kessler, C Braig, M Bahnweg, E André
Publication Date: 2006-04-06

Variant appearance in text: rs2076756
PMID: 16600026
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000300589.2 c.2798+265A>G - intron_variant - 8/11
ENST00000524712.1 c.*111+265A>G - intron_variant,NMD_transcript_variant - 2/2
ENST00000527052.1 c.*83+265A>G - intron_variant,NMD_transcript_variant - 2/2
ENST00000529633.1 c.*195+265A>G - intron_variant,NMD_transcript_variant - 3/3
ENST00000534057.1 c.432+265A>G - intron_variant - 4/4
ENST00000534067.1 c.*347+265A>G - intron_variant,NMD_transcript_variant - 2/2
NM_001293557.2 c.2717+265A>G - intron_variant - 7/10
NM_001370466.1 c.2717+265A>G - intron_variant - 8/11
NM_022162.3 c.2798+265A>G - intron_variant - 8/11
NR_163434.1 n.2929+265A>G - intron_variant,non_coding_transcript_variant - 9/12