rs3792106

This is a intron variant variant in the ATG16L1 gene.

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Research that mentions this SNP (2)

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Transmission Distortion in Crohnʼs Disease Risk Gene ATG16L1 Leads to Sex Difference in Disease Association
AssociationN=4,686Linda Y. Liu et al.(2012)· Inflammatory Bowel Diseases

This study investigated sex-specific genetic associations in Crohn's disease by analyzing 71 genome-wide association study (GWAS)-confirmed CD risk loci in 1748 CD cases and 2938 controls. The authors identified that rs3792106 in ATG16L1 exhibits significant sex-specific associations, with females showing stronger disease association (OR=1.48-1.51) compared to males (OR=1.22-1.26). Transmission distortion analysis in HapMap 3 trios suggests sex-biased inheritance patterns contribute to allele frequency differences between healthy males and females at this locus.

Traits studied:Crohn's disease
PubMedDOIMetascience Observatory
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Contribution of IL23R but not ATG16L1 to Crohnʼs disease susceptibility in Koreans
AssociationN=760Suk-Kyun Yang et al.(2009)· Inflammatory Bowel Diseases

This case-control association study tested 5 IL23R SNPs and 12 ATG16L1 SNPs in 380 Korean Crohn's disease patients and 380 controls. Two IL23R variants showed significant associations with CD: rs1004819 (aOR=1.822, P=0.009) and rs1495965 (aOR=1.650, P=0.015), with specificity for stricturing and penetrating disease behavior. None of the 12 ATG16L1 SNPs were significantly associated with CD in this Korean population.

Traits studied:Crohn's disease
PubMedDOIMetascience Observatory

About ATG16L1

The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

View all ATG16L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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