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NOD2

From SNPedia

is agene
is mentioned by
Full namenucleotide-binding oligomerization domain containing 2
EntrezGene64127
PheGenI64127
VariationViewer64127
ClinVarNOD2
GeneCardsNOD2
dbSNP64127
DiseasesNOD2
SADR64127
HugeNav64127
wikipediaNOD2
googleNOD2
gopubmedNOD2
EVSNOD2
HEFalMpNOD2
MyGene2NOD2
23andMeNOD2
UniProtQ9HC29
EnsemblENSG00000167207
OMIM605956
# SNPs29
 Max MagnitudeChromosome positionSummary
rs104895431050,711,203
rs104895438050,711,745
rs104895444050,712,288
rs104895460050,711,316
rs104895461050,710,912
rs104895462050,710,911
rs104895472050,711,398
rs104895476050,711,057
rs104895477050,711,058
rs107786150,725,636
rs17221417250,705,671
rs1731326550,713,793
rs2066842050,710,713
rs2066843250,711,288
rs2066844450,712,015
rs2066845450,722,629
rs2066847450,729,867
rs2067085050,699,948
rs2076756050,722,970
rs3135499050,732,216
rs3135500050,732,975
rs34936594050,699,655
rs5743277050,712,018
rs5743289150,722,863
rs5743293050,729,870
rs746055479050,712,108
rs752615209050,710,956
rs805734150,704,069
rs886040969050,712,357


[PMID 17568627] NOD2 3020insC (either rs2066847 or rs5743293) is the most common and highest risk variant in Crohn's disease.

[PMID 18371140] Carriers of any of several NOD2 variant SNPs do not respond well to treatment of perianal fistulating Crohn's disease by the antibiotics ciprofloxacin or metronidazole, whereas carriers of wild-type NOD2 genes have at least some chance (1 in 3) of responding well.

[PMID 17724347] NOD2/CARD15 SNP variants are associated with an increased risk of relapse and death for patients with acute leukemia after hematopoietic stem-cell transplantation (HSCT) with unrelated donors as compared with wild-type pairs. NOD2/CARD15 genotyping before transplantation may contribute to prognosis and influence clinical management.

[PMID 18756601] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.

The 23andMe blog 23andme blog reports that the C allele at rs9302752, a SNP in the NOD2 gene, is associated with greater susceptibility to leprosy in Asians (odds ratio 1.59).

[PMID 11385576] These observations suggest that the NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-kB in monocytes, thus documenting a molecular model for the pathogenic mechanism of Crohn's disease that can now be further investigated.