rs10210302

This is a upstream gene variant variant in the ATG16L1 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

Paul R. Burton et al. “Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.” Nature 447(7145):661-678 (2007)
Allele T
OR 1.19
p 5.0e-14
N 4,686
Large GWAS
European
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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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Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
ReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology

This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.

Traits studied:5-fluorouracil toxicityanticoagulant responseantidepressant responseasthmaatrial fibrillationbeta-blocker responsebreast cancerclopidogrel responsecolorectal cancerdrug metabolismdrug responsehypertensionirinotecan toxicitylung cancerproton pump inhibitor metabolismrheumatoid arthritisthiopurine toxicitythrombosis risktype 2 diabeteswarfarin sensitivity
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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