rs1799814
This is a variant in the CYP1A1 gene that changes a threonine to an asparagine.
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Variation in PAH‐related DNA adduct levels among non‐smokers: The role of multiple genetic polymorphisms and nucleotide excision repair phenotypeAssociationN=111Arash Etemadi et al.(2013)· International Journal of Cancer
This study examined PAH-related DNA adduct levels in 111 female never-smokers from Iran, evaluating 21 SNPs in 14 xenobiotic metabolism genes and 12 SNPs in 8 DNA repair genes. DNA adduct levels were significantly lower with NAT2 slow alleles (β=-0.24, p=0.01) and ERCC5 non-risk genotype (β=0.16, p=0.04), but higher with MPO risk alleles (β=0.21, p=0.01). The combination of phase I genes and measured NER capacity explained 17% more variation in adduct levels than environmental exposure alone (r²=0.24 vs 0.07), demonstrating the importance of genetic polymorphisms in PAH metabolism and DNA repair capacity.
▶Association of variants in estrogen‐related pathway genes with prostate cancer riskAssociationN=2,570Sarah K. Holt et al.(2013)· The Prostate
Population-based case-control study of 1,304 prostate cancer cases and 1,266 controls examining 73 SNPs in five estrogen pathway genes (ESR1, ESR2, CYP19A1, CYP1A1, CYP1B1). Only CYP1B1 rs1056836 (Val158Met) retained significance after multiple comparisons adjustment (OR=1.22, 95% CI 1.02-1.46, p=0.004). ESR1, CYP1A1, and CYP1B1 variants showed nominal associations with prostate cancer risk, and ESR2/CYP19A1 variants associated with tumor aggressiveness, though these did not persist after correction.
▶Modulation of urinary polycyclic aromatic hydrocarbon metabolites by enzyme polymorphisms in workers of the German Human Bitumen StudyAssociationN=314Hans-Peter Rihs et al.(2011)· Archives of Toxicology
Study of 314 German workers (218 bitumen-exposed, 96 non-exposed controls) examining how 18 SNPs in metabolizing enzyme genes modulate urinary PAH metabolites (1-OHP and OHPHE). The CYP1A1 3801T>C CC variant showed 58% higher OHPHE (P=0.051), GSTM1*1 carriers had 11% lower OHPHE (P=0.046), and NAT2*803GG showed 15-16% decrease in OHPHE (P=0.042). No SNPs reached significance for 1-OHP.
▶The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancerAssociationN=2,593Steven J. Hawken et al.(2010)· Human Genetics
This study evaluated the utility of genomic profiling combining multiple low-penetrance variants for colorectal cancer (CRC) risk prediction and screening. Using simulations and ARCTIC study data (1,257 cases, 1,336 controls), the authors found that 140-160 common risk variants (OR ~1.2 each) would be needed to capture 80% of CRC cases in the top 50% of individuals by genetic risk score. In empirical analysis, a panel of replicated variants (rs1801282, rs2289046, rs2472300, rs3099844, rs4779584, rs10505477, rs10735810) achieved modest predictive value (AUC 0.54-0.66 with age/sex), with subjects carrying 30+ risk alleles showing 2.26-fold increased risk (95% CI 1.27-4.04) versus those with ≤20 alleles.
About CYP1A1
This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
View all CYP1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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