rs17134592
This is a variant in the AKR1C4 gene that changes a leucine to an valine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic variability in the metabolism of the tobacco‐specific nitrosamine 4‐(methylnitrosamino)‐1‐(3‐pyridyl)‐1‐butanone (NNK) to 4‐(methylnitrosamino)‐1‐(3‐pyridyl)‐1‐butanol (NNAL)AssociationN=92Monica Ter‐Minassian et al.(2012)· International Journal of Cancer
This candidate gene study examined genetic polymorphisms in NNK (tobacco-specific nitrosamine) metabolism pathways and their association with urinary NNAL (NNK metabolite) levels in 92 current smokers (39 lung cancer cases, 53 controls). Three HSD11B1 SNPs (rs2235543, rs3753519, rs10863782) in intron 1 were significantly associated with decreased NNAL levels, with rs2235543 showing the strongest association (p=1.37E-07, beta=-0.27 to -0.39). AKR1C4 rs7083869 also showed association with decreased NNAL (p=0.019), while CYP2E1 rs915907 showed borderline significance under the dominant model (p=0.048).
About AKR1C4
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
View all AKR1C4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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