Variant ID: 16-50756774-C-T

NM_022162.1(NOD2):c.2798+158C>T

This variant was identified in 18 publications




Publications:


Two novel SNPs in genes involved in immune response and their association with mandibular residual ridge resorption.

Saudi Journal Of Biological Sciences
HA AlSheikh, S AlZain, JP Shaik, S Bhogoju, A Warsy, N Reddy Parine
Publication Date: 2020-03

Variant appearance in text: rs5743289
PMID: 32127761
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Influence of Crohn's disease related polymorphisms in innate immune function on ileal microbiome.

Plos One
E Li, Y Zhang, X Tian, X Wang, G Gathungu, A Wolber, SS Shiekh, RB Sartor, NO Davidson, MA Ciorba, W Zhu, LM Nelson, CE Robertson, DN Frank
Publication Date: 2019

Variant appearance in text: rs5743289
PMID: 30818349
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Genetic Markers Predict Primary Nonresponse and Durable Response to Anti-Tumor Necrosis Factor Therapy in Ulcerative Colitis.

Inflammatory Bowel Diseases
KE Burke, H Khalili, JJ Garber, T Haritunians, DPB McGovern, RJ Xavier, AN Ananthakrishnan
Publication Date: 2018-07-12

Variant appearance in text: rs5743289
PMID: 29718226
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Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome.

Autoimmunity
C McDonald, M Shen, EE Johnson, A Kabi, Q Yao
Publication Date: 2018-03

Variant appearance in text: N/A
PMID: 29471675
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Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Scientific Reports
X Li, P Song, M Timofeeva, X Meng, I Rudan, J Little, J Satsangi, H Campbell, E Theodoratou
Publication Date: 2016-09-27

Variant appearance in text: rs5743289
PMID: 27670835
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Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.

Gastroenterology
C Huang, T Haritunians, DT Okou, DJ Cutler, ME Zwick, KD Taylor, LW Datta, JC Maranville, Z Liu, S Ellis, P Chopra, JS Alexander, RN Baldassano, RK Cross, T Dassopoulos, TA Dhere, RH Duerr, JS Hanson, JK Hou, SZ Hussain, KL Isaacs, KE Kachelries, H Kader, MD Kappelman, J Katz, R Kellermayer, BS Kirschner, JF Kuemmerle, A Kumar, JH Kwon, M Lazarev, P Mannon, DE Moulton, BO Osuntokun, A Patel, JD Rioux, JI Rotter, S Saeed, EJ Scherl, MS Silverberg, A Silverman, SR Targan, JF Valentine, MH Wang, CL Simpson, SL Bridges, RP Kimberly, SS Rich, JH Cho, AD Rienzo, LWH Kao, DPB McGovern, SR Brant, S Kugathasan
Publication Date: 2015-11

Variant appearance in text: rs5743289
PMID: 26278503
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Pattern-recognition receptors and gastric cancer.

Frontiers In Immunology
N Castaño-Rodríguez, NO Kaakoush, HM Mitchell
Publication Date: 2014

Variant appearance in text: rs5743289
PMID: 25101079
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Common risk alleles for inflammatory diseases are targets of recent positive selection.

American Journal Of Human Genetics
T Raj, M Kuchroo, JM Replogle, S Raychaudhuri, BE Stranger, PL De Jager
Publication Date: 2013-04-04

Variant appearance in text: rs5743289
PMID: 23522783
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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: rs5743289
PMID: 22496383
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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: N/A
PMID: 22152681
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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: rs5743289
PMID: 21427131
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Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.

Plos One
J Wagner, WH Sim, JA Ellis, EK Ong, AG Catto-Smith, DJ Cameron, RF Bishop, CD Kirkwood
Publication Date: 2010-11-08

Variant appearance in text: rs5743289
PMID: 21079743
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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: N/A
PMID: 20876667
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Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.

Human Molecular Genetics
DP McGovern, MR Jones, KD Taylor, K Marciante, X Yan, M Dubinsky, A Ippoliti, E Vasiliauskas, D Berel, C Derkowski, D Dutridge, P Fleshner, DQ Shih, G Melmed, E Mengesha, L King, S Pressman, T Haritunians, X Guo, SR Targan, JI Rotter,
Publication Date: 2010-09-01

Variant appearance in text: rs5743289
PMID: 20570966
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Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states.

The Journal Of Infectious Diseases
WR Berrington, M Macdonald, S Khadge, BR Sapkota, M Janer, DA Hagge, G Kaplan, TR Hawn
Publication Date: 2010-05-01

Variant appearance in text: rs5743289
PMID: 20350193
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Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.

Bmc Gastroenterology
N Möckelmann, W von Schönfels, S Buch, O von Kampen, B Sipos, JH Egberts, P Rosenstiel, A Franke, M Brosch, S Hinz, C Röder, H Kalthoff, UR Fölsch, M Krawczak, S Schreiber, CD Bröring, J Tepel, C Schafmayer, J Hampe
Publication Date: 2009-10-20

Variant appearance in text: rs5743289
PMID: 19843337
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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: rs5743289
PMID: 18758464
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Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.

Plos Genetics
C Libioulle, E Louis, S Hansoul, C Sandor, F Farnir, D Franchimont, S Vermeire, O Dewit, M de Vos, A Dixon, B Demarche, I Gut, S Heath, M Foglio, L Liang, D Laukens, M Mni, D Zelenika, A Van Gossum, P Rutgeerts, J Belaiche, M Lathrop, M Georges
Publication Date: 2007-04-20

Variant appearance in text: N/A
PMID: 17447842
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000534057.1 c.432+158C>T - intron_variant - 4/4
ENST00000300589.2 c.2798+158C>T - intron_variant - 8/11
ENST00000524712.1 c.*111+158C>T - intron_variant,NMD_transcript_variant - 2/2
ENST00000527052.1 c.*83+158C>T - intron_variant,NMD_transcript_variant - 2/2
ENST00000529633.1 c.*195+158C>T - intron_variant,NMD_transcript_variant - 3/3
ENST00000534067.1 c.*347+158C>T - intron_variant,NMD_transcript_variant - 2/2
NM_001293557.2 c.2717+158C>T - intron_variant - 7/10
NM_001370466.1 c.2717+158C>T - intron_variant - 8/11
NM_022162.3 c.2798+158C>T - intron_variant - 8/11
NR_163434.1 n.2929+158C>T - intron_variant,non_coding_transcript_variant - 9/12