rs1902023
This is a missense variant in the UGT2B15 gene.
Key Literature Trait Associations
Benzodiazepine Metabolism
UGT2B15 D85Y (rs1902023) is a common missense variant in UDP-glucuronosyltransferase 2B15. The Tyr85 variant (A allele, *2 allele) reduces enzymatic glucuronidation activity, leading to significantly slower clearance of lorazepam (42% reduction) and oxazepam (52% reduction) in homozygous carriers. This may necessitate benzodiazepine dose adjustments to avoid prolonged sedation.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
X-17340 measurement
vanillylmandelate (VMA) measurement
serum gamma-glutamyl transferase measurement
X-24418 measurement
5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement
sex hormone-binding globulin measurement
level of serpin A11 in blood
X-21286 measurement
testosterone measurement
metabolite measurement
▶Research that mentions this SNP (2)
▶UGT2B17 gene deletion associated with an increase in bone mineral density similar to the effect of hormone replacement in postmenopausal womenAssociationN=2,379Giroux S. et al.(2012)· Osteoporosis International
UGT2B17 gene deletion was associated with significantly higher bone mineral density (BMD) at the femoral neck and lumbar spine in postmenopausal women who never used hormone replacement therapy (HRT), with effect sizes of 0.25-0.32 standard deviations. This association was not observed in premenopausal women or in postmenopausal women who used HRT. The study replicated previous findings in a large sample of 2,379 women and showed that UGT2B17 null carriers did not benefit from HRT for bone density.
▶Allelic imbalance (AI) identifies novel tissue-specificcis-regulatory variation for humanUGT2B15FunctionalN=112Chang Sun et al.(2010)· Human Mutation
This functional study identifies cis-regulatory variants controlling UGT2B15 expression through allelic imbalance analysis. The coding variant rs1902023 (D85Y) shows allele-specific expression in liver but not breast tissue. Reporter assays confirm that two promoter SNPs (rs34010522 and rs35513228) regulate expression with ~20% activity difference in liver (P<0.001), and ChIP assays show rs34010522 lies within an Nrf2 transcription factor binding site.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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