Variant ID: 16-50745199-C-A

NM_022162.1(NOD2):c.1377C>A;(p.Arg459Arg)

This variant was identified in 32 publications




Publications:


Genetic Variants Associated with FDNY WTC-Related Sarcoidosis.

International Journal Of Environmental Research And Public Health
KL Cleven, K Ye, R Zeig-Owens, KM Hena, C Montagna, J Shan, HD Hosgood, N Jaber, MD Weiden, HL Colbeth, DG Goldfarb, SD Spivack, DJ Prezant
Publication Date: 2019-05-23

Variant appearance in text: rs2066843
PMID: 31126090
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The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population.

Molecular Genetics & Genomic Medicine
X Cai, Q Xu, C Zhou, L Zhou, W Dai, G Ji
Publication Date: 2019-06

Variant appearance in text: rs2066843
PMID: 30950247
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Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.

Cold Spring Harbor Molecular Case Studies
S Lipinski, BS Petersen, M Barann, A Piecyk, F Tran, G Mayr, M Jentzsch, K Aden, ST Stengel, UC Klostermeier, V Sheth, D Ellinghaus, T Rausch, JO Korbel, M Nothnagel, M Krawczak, C Gilissen, JA Veltman, M Forster, P Forster, CC Lee, A Fritscher-Ravens, S Schreiber, A Franke, P Rosenstiel
Publication Date: 2019-02

Variant appearance in text: NOD2: R459R
PMID: 30709874
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Epidemiology of Inflammatory Bowel Disease in India: The Great Shift East.

Inflammatory Intestinal Diseases
S Kedia, V Ahuja
Publication Date: 2017-11

Variant appearance in text: rs2066843
PMID: 30018961
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Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Genes And Immunity
KA Shaw, DJ Cutler, D Okou, A Dodd, BJ Aronow, Y Haberman, C Stevens, TD Walters, A Griffiths, RN Baldassano, JD Noe, JS Hyams, WV Crandall, BS Kirschner, MB Heyman, S Snapper, S Guthery, MC Dubinsky, JM Shapiro, AR Otley, M Daly, LA Denson, S Kugathasan, ME Zwick
Publication Date: 2019-02

Variant appearance in text: rs2066843
PMID: 29593342
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NOD2 genetic variants and sarcoidosis-associated uveitis.

American Journal Of Ophthalmology Case Reports
S Davoudi, D Navarro-Gomez, L Shen, C Ung, A Ren, L Sullivan, M Kwong, M Janessian, J Comander, X Gai, AM Lobo, GN Papaliodis, L Sobrin
Publication Date: 2016-10

Variant appearance in text: NOD2: R459R; rs2066843
PMID: 29503906
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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: rs2066843
PMID: 29434451
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Genetic polymorphisms of the IL6 and NOD2 genes are risk factors for inflammatory reactions in leprosy.

Plos Neglected Tropical Diseases
C Sales-Marques, CC Cardoso, LE Alvarado-Arnez, X Illaramendi, AM Sales, MA Hacker, MGM Barbosa, JADC Nery, RO Pinheiro, EN Sarno, AG Pacheco, MO Moraes
Publication Date: 2017-07

Variant appearance in text: rs2066843
PMID: 28715406
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Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Scientific Reports
G Andreoletti, V Shakhnovich, K Christenson, T Coelho, R Haggarty, NA Afzal, A Batra, BS Petersen, M Mort, RM Beattie, S Ennis
Publication Date: 2017-04-19

Variant appearance in text: NOD2: R459R
PMID: 28422189
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Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients.

Scientific Reports
L Choteau, F Vasseur, F Lepretre, M Figeac, C Gower-Rousseau, L Dubuquoy, D Poulain, JF Colombel, B Sendid, S Jawhara
Publication Date: 2016-07-12

Variant appearance in text: rs2066843
PMID: 27404661
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Association of NOD2 and IL23R with inflammatory bowel disease in Puerto Rico.

Plos One
V Ballester, X Guo, R Vendrell, T Haritunians, AM Klomhaus, D Li, DP McGovern, JI Rotter, EA Torres, KD Taylor
Publication Date: 2014

Variant appearance in text: rs2066843
PMID: 25259511
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Association of IRGM gene mutations with inflammatory bowel disease in the Indian population.

Plos One
K Baskaran, S Pugazhendhi, BS Ramakrishna
Publication Date: 2014

Variant appearance in text: rs2066843
PMID: 25191865
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Prediction of Crohn's disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort.

World Journal Of Gastroenterology
M Bhullar, F Macrae, G Brown, M Smith, K Sharpe
Publication Date: 2014-05-07

Variant appearance in text: CARD15: R459R
PMID: 24803813
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Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

International Journal Of Molecular Sciences
M Girardelli, J Vuch, A Tommasini, S Crovella, AM Bianco
Publication Date: 2014-03-03

Variant appearance in text: NOD2: R459R; rs2066843
PMID: 24595243
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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: rs2066843
PMID: 23850724
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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: rs2066843
PMID: 21427131
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An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

Plos One
G Juyal, P Prasad, S Senapati, V Midha, A Sood, D Amre, RC Juyal, T BK
Publication Date: 2011-01-31

Variant appearance in text: rs2066843
PMID: 21304977
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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: rs2066843
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: rs2066843
PMID: 21121902
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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: rs2066843
PMID: 20876667
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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: rs2066843
PMID: 20505004
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Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

Nature Genetics
DP McGovern, A Gardet, L Törkvist, P Goyette, J Essers, KD Taylor, BM Neale, RT Ong, C Lagacé, C Li, T Green, CR Stevens, C Beauchamp, PR Fleshner, M Carlson, M D'Amato, J Halfvarson, ML Hibberd, M Lördal, L Padyukov, A Andriulli, E Colombo, A Latiano, O Palmieri, EJ Bernard, C Deslandres, DW Hommes, DJ de Jong, PC Stokkers, RK Weersma, , Y Sharma, MS Silverberg, JH Cho, J Wu, K Roeder, SR Brant, LP Schumm, RH Duerr, MC Dubinsky, NL Glazer, T Haritunians, A Ippoliti, GY Melmed, DS Siscovick, EA Vasiliauskas, SR Targan, V Annese, C Wijmenga, S Pettersson, JI Rotter, RJ Xavier, MJ Daly, JD Rioux, M Seielstad
Publication Date: 2010-04

Variant appearance in text: NOD2: R459R; rs2066843
PMID: 20228799
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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: rs2066843
PMID: 19236714
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Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.

Arthritis And Rheumatism
TG Day, AV Ramanan, A Hinks, R Lamb, J Packham, C Wise, M Punaro, RP Donn
Publication Date: 2008-07

Variant appearance in text: rs2066843
PMID: 18576390
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Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.

Cancer Biology & Therapy
AC Tan, JB Fan, C Karikari, M Bibikova, EW Garcia, L Zhou, D Barker, D Serre, G Feldmann, RH Hruban, AP Klein, M Goggins, FJ Couch, TJ Hudson, RL Winslow, A Maitra, A Chakravarti
Publication Date: 2008-01

Variant appearance in text: rs2066843
PMID: 18059179
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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: rs2066843
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: rs2066843
PMID: 17618837
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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: rs2066843
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: rs2066843
PMID: 16600026
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Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.

American Journal Of Human Genetics
T Tukel, A Shalata, D Present, D Rachmilewitz, L Mayer, D Grant, N Risch, RJ Desnick
Publication Date: 2004-04

Variant appearance in text: CARD15: R459R
PMID: 15024686
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A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.

American Journal Of Human Genetics
K Sugimura, KD Taylor, YC Lin, T Hang, D Wang, YM Tang, N Fischel-Ghodsian, SR Targan, JI Rotter, H Yang
Publication Date: 2003-03

Variant appearance in text: N/A
PMID: 12577202
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CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

American Journal Of Human Genetics
S Lesage, H Zouali, JP Cézard, JF Colombel, J Belaiche, S Almer, C Tysk, C O'Morain, M Gassull, V Binder, Y Finkel, R Modigliani, C Gower-Rousseau, J Macry, F Merlin, M Chamaillard, AS Jannot, G Thomas, JP Hugot, , ,
Publication Date: 2002-04

Variant appearance in text: CARD15: R459R
PMID: 11875755
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000300589.2 c.1377C>A p.Arg459= synonymous_variant 4/12 -
NM_001293557.2 c.1296C>A p.Arg432= synonymous_variant 3/11 -
NM_001370466.1 c.1296C>A p.Arg432= synonymous_variant 4/12 -
NM_022162.3 c.1377C>A p.Arg459= synonymous_variant 4/12 -
NR_163434.1 n.1361C>A - non_coding_transcript_exon_variant 4/13 -