rs7083869

This is a upstream gene variant variant in the AKR1C4 gene.

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Research that mentions this SNP (2)

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NNK reduction pathway gene polymorphisms and risk of lung cancer
AssociationN=1,263Jennifer L. Modesto et al.(2015)· Molecular Carcinogenesis

Case-control study of 456 lung cancer cases and 807 controls investigating 53 tag-SNPs in genes encoding NNK-metabolizing enzymes (AKR1C1, AKR1C2, CBR1, HSD11B1). rs2835267 in CBR1 showed decreased lung cancer risk overall (OR: 0.76, p=0.048) and in high pack-year smokers with SCC (OR: 0.35, p=0.018); rs3787728 in CBR1 and rs4844880 in HSD11B1 also showed significant associations with specific histologies after multiple testing correction.

Traits studied:AdenocarcinomaLung cancerSmall cell carcinomaSquamous cell carcinoma
PubMedDOIMetascience Observatory
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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).

Traits studied:Lung cancer riskTobacco-specific nitrosamine NNK metabolismUrinary NNAL levels
PubMedDOIMetascience Observatory

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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