rs11564258

This is a intron variant variant in the MUC19 gene.

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GWAS Catalog Trait Associations (2)

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

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)

Allele A

OR 1.33

p 6.0e-29

N 34,366

Large GWAS

European

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 A

OR 1.74

p 6.0e-21

N 21,389

Meta-analysisLarge GWAS

European

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Research that mentions this SNP (1)

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Phenotype–Genotype Profiles in Crohnʼs Disease Predicted by Genetic Markers in Autophagy-Related Genes (GOIA Study II)

AssociationN=448Cecília Durães et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis encompasses multiple studies on pediatric inflammatory bowel disease (IBD): epidemiological analysis shows rising incidence in Scotland (4.45 to 7.82 per 100,000 per year); transmission disequilibrium testing identified rs8126734-A as overtransmitted in IBD and CD (OR 1.48, p=0.047; OR 1.85 for CD, p=0.008); genome-wide association meta-analysis confirmed strong signals in ICOSLG 3'UTR for CD susceptibility; CRP gene variants (rs1417938, rs1130864) showed significant overtransmission (p=0.006, p=0.015); and faecal calprotectin demonstrated superior diagnostic accuracy for PIBD detection (sensitivity 0.93, specificity 0.74).

Traits studied:Crohn's diseaseInflammatory bowel diseasePediatric inflammatory bowel diseaseUlcerative colitis

PubMed DOI Metascience Observatory

About MUC19

This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014]