rs2076756

This is a intron variant variant in the NOD2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Crohn's disease

Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele G
OR 1.53
p 4.0e-69
N 21,389
Meta-analysisLarge GWAS
European
Kenny EE et al. “A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.” Plos Genetics 8(3):e1002559 (2012)
Allele G
OR 1.66
p 1.0e-37
N 2,994
Large GWAS
European
Julià A et al. “A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.” Gut 62(10):1440-5 (2013)
Allele G
OR 1.46
p 3.0e-10
N 2,765
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Strategies and issues in the detection of pathway enrichment in genome-wide association studies
MethodsN=28,191Mun-Gwan Hong et al.(2009)· Human Genetics

This methodological study develops ProxyGeneLD software for converting genome-wide SNP association data to pathway-enriched gene sets and validates it on multiple large GWAS datasets. The authors demonstrate successful replication of pathway enrichment for plasma HDL levels (with CETP and ABCA1 in lipid metabolism pathways) across independent samples and identify positional gene clustering as a major source of spurious enrichment in pathway analyses of GWAS data.

Traits studied:Crohn's diseasePlasma HDL cholesterolPlasma LDL cholesterolPlasma triglyceride levelsType 2 diabetes
PubMedDOIMetascience Observatory

About NOD2

This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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