rs10248420
This variant is located in the ABCB1 gene.
▶Research that mentions this SNP (5)
▶Polymorphism in alpha 2A adrenergic receptor gene is associated with sialorrhea in schizophrenia patients on clozapine treatmentAssociationN=237Anssi Solismaa et al.(2014)· Human Psychopharmacology: Clinical and Experimental
This dissertation examined pharmacogenetic associations with clozapine adverse effects in 237 Finnish schizophrenia patients. ADRA2A rs1800544 was associated with clozapine-induced sialorrhea (OR 2.13, 95% CI: 1.17-3.88, p=0.013). Eight HNMT SNPs in complete linkage disequilibrium (r²=1) were associated with sedation. CHRM3 rs685548 and weighted genetic risk scores from HTR4, HTR7, TPH1, CHRM2, ABCB1, and OPRM1 were associated with anticholinergic symptoms.
▶Associations between variants in the ABCB1 (MDR1) gene and corticosteroid dependence in children with Crohnʼs diseaseAssociationN=260Alfreda Krupoves et al.(2011)· Inflammatory Bowel Diseases
A candidate gene association study examining ABCB1 (MDR1) gene variants and corticosteroid dependence in 260 pediatric Crohn's disease patients. The rare C allele of rs2032583 conferred protection from corticosteroid dependency (OR=0.56, 95% CI: 0.34-0.95, P=0.029), with the heterozygous TC genotype also protective (OR=0.52, P=0.035). A three-marker haplotype was significantly associated with corticosteroid dependence after multiple comparison correction (P=0.004).
▶Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental
This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.
▶Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjectsReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental
A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.
▶Associations between ABCB1/MDR1 gene polymorphisms and Crohnʼs disease: A gene-wide study in a pediatric populationAssociationN=606Alfreda Krupoves et al.(2009)· Inflammatory Bowel Diseases
This case-control study of 270 pediatric Crohn's disease cases and 336 controls examined 14 tag-SNPs in the ABCB1/MDR1 gene for associations with disease susceptibility and phenotypes. While SNP rs17327442 showed nominal association with overall CD susceptibility (OR=0.72, P=0.04), this did not withstand multiple testing correction. Two SNPs (rs10248420, rs2032583) were significantly associated with colonic disease location (L2±L4), and five SNPs were nominally associated with noninflammatory disease phenotype. Haplotype analysis revealed specific haplotypes associated with colonic and noninflammatory CD phenotypes.
About ABCB1
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
View all ABCB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…