rs1000113
This is a regulatory region variant variant in the IRGM gene.
▶Research that mentions this SNP (1)
▶Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatmentReviewJürgen 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.
About IRGM
This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
View all IRGM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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