{{Rsnum
|rsid=1048943
|Gene=CYP1A1
|Chromosome=15
|position=74720644
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1198
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CYP1A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 93.8 | 6.2 | 0.0
| HCB | 56.6 | 36.0 | 7.4
| JPT | 63.7 | 33.6 | 2.7
| YRI | 100.0 | 0.0 | 0.0
| ASW | 91.1 | 8.9 | 0.0
| CHB | 56.6 | 36.0 | 7.4
| CHD | 56.9 | 36.7 | 6.4
| GIH | 79.0 | 20.0 | 1.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 48.3 | 37.9 | 13.8
| MKK | 0.0 | 0.0 | 0.0
| TSI | 94.1 | 5.9 | 0.0
| HapMapRevision=28
}}
Also known as Ile462Val A4889G CYP1A1*2C

{{PMID Auto
|PMID=19351467
|Title=[Relationship between gene polymorphism of CYP2E1, CYP1A1, IL-4 and medicamentosa-like dermatitis induced by trichloroethylene.]
}}

{{PMID Auto
|PMID=19168589
|Title=Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China
|OA=1
}}

{{PMID Auto
|PMID=19608585
|Title=Genetic association study of CYP1A1 polymorphisms identifies risk haplotypes in non-small cell lung cancer
}}

{{PharmGKB
|RSID=rs1048943
|Name_s=CYP1A1*2C; CYP1A1:Hinc II; CYP1A1:I462V; CYP1A1:4889A>G; CYP1A1:2455A>G; CYP1A1:m2
|Gene_s=CYP1A1
|Feature=
|Evidence=PubMed ID:17372243; PubMed ID:17461521
|Annotation=Homozygotes associated with development of oral cancer, no association for ovarian cancer.
|Drugs=
|Drug Classes=
|Diseases=Mouth Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161145037
}}

{{PMID Auto
|PMID=20544687
|Title=Evidence that genetic variants of metabolic detoxication and cell cycle control are not related to gallbladder cancer risk in Chilean women
}}

{{PMID|15942023|OA=1
}} Genome amplification of single sperm using multiple displacement amplification.

{{PMID|16026601|OA=1
}} Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

{{PMID|16412218|OA=1
}} Multilocus analysis of SNP and metabolic data within a given pathway.

{{PMID|16949388}} CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal.

{{PMID|17116718|OA=1
}} Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.

{{PMID|17548691|OA=1
}} Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.

{{PMID|17603290}} Cytochrome P450 1A1 (CYP1A1) polymorphisms and breast cancer risk in Korean women.

{{PMID|18191955|OA=1
}} Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

{{PMID|18298806|OA=1
}} Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

{{PMID|18601742|OA=1
}} Polymorphisms of selected xenobiotic genes contribute to the development of papillary thyroid cancer susceptibility in Middle Eastern population.

{{PMID|18628428|OA=1
}} Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.

{{PMID|18632753|OA=1
}} Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

{{PMID|18691756|OA=1
}} Paternal smoking, genetic polymorphisms in CYP1A1 and childhood leukemia risk.

{{PMID|18763031|OA=1
}} CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.

{{PMID|18787887|OA=1
}} Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

{{PMID|18805939|OA=1
}} Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

{{PMID|18980759}} Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect.

{{PMID|18990750|OA=1
}} Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.

{{PMID|18992263|OA=1
}} Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

{{PMID|19127255|OA=1
}} Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.

{{PMID|19174490|OA=1
}} Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.

{{PMID|19267064}} [Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].

{{PMID|19287484|OA=1
}} Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm.

{{PMID|19330903|OA=1
}} Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans.

{{PMID|19338043|OA=1
}} Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma.

{{PMID|19479063|OA=1
}} Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

{{PMID|19537956|OA=1
}} CYP1A1 genotype modifies the impact of smoking on effectiveness of HAART among women.

{{PMID|19630952|OA=1
}} Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

{{PMID|19899130}} Polymorphisms of drug-metabolizing genes and risk of non-Hodgkin lymphoma.

{{PMID|19954069}} [Association of nasopharyngeal carcinoma risk with cytochrome P450 CYP1A1 gene polymorphisms].

{{PMID|20878621}} Impact of CYP1A1 and COMT genotypes on breast cancer risk in Mexican women: a pilot study.

{{PMID|21254355|OA=1
}} Smoking, the xenobiotic pathway, and clubfoot.

{{PMID|21429951}} Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.

{{PMID|21708280|OA=1
}} Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

{{PMID|22426923}} Pharmacogenetic assessment of clinical outcome in patients with metastatic breast cancer treated with docetaxel plus capecitabine.

{{PMID|22525558}} Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.

{{GET Evidence
|gene=CYP1A1
|aa_change=Ile462Val
|aa_change_short=I462V
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1048943
|overall_frequency_n=290
|overall_frequency_d=10758
|overall_frequency=0.0269567
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|in_pharmgkb=Y
|pph2_score=0.488
|genetests_testable=Y
|nblosum100=-4
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=23785672
|Title=Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans
|OA=1
}}

{{PMID Auto
|PMID=24084248
|Title=The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
}}

{{PMID Auto
|PMID=24320736
|Title=Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study
}}

{{PMID Auto
|PMID=23816456
|Title=CYP1A1 genetic polymorphism and polycyclic aromatic hydrocarbons on pulmonary function in the elderly: haplotype-based approach for gene-environment interaction
}}

{{PMID Auto
|PMID=24499375
|Title=Association of Oxidative Stress Related Genes with Idiopathic Recurrent Miscarriage
}}

{{PMID Auto
|PMID=22949524
|Title=Gene-environment interaction in preterm delivery with special reference to organochlorine pesticides.
}}

{{PMID Auto
|PMID=23000097
|Title=Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women.
}}

{{PMID Auto
|PMID=23021345
|Title=Gene-diet interactions on plasma lipid levels in the Inuit population.
}}

{{PMID Auto
|PMID=23107763
|Title=Host genetic risk factors for community-acquired pneumonia.
}}

{{PMID Auto
|PMID=23130019
|Title=Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
|OA=1
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23178447
|Title=Lung cancer risk in relation to nicotinic acetylcholine receptor, CYP2A6 and CYP1A1 genotypes in the Bangladeshi population.
}}

{{PMID Auto
|PMID=23661361
|Title=The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor.
}}

{{PMID Auto
|PMID=23832578
|Title=CYP1A1 exon7 polymorphism is associated with lung cancer risk among the female population and among smokers: a meta-analysis.
}}

{{PMID Auto
|PMID=23848208
|Title=CYP1A1 gene polymorphisms and polycystic ovary syndrome risk: a meta-analysis and meta-regression.
}}

{{PMID Auto
|PMID=23852617
|Title=Common polymorphisms in the CYP1A1 and CYP11A1 genes and polycystic ovary syndrome risk: a meta-analysis and meta-regression.
}}

{{PMID Auto
|PMID=24777039
|Title=A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese
}}

{{PMID Auto
|PMID=24068433
|Title=CYP1A1, GCLC, AGT, AGTR1 gene-gene interactions in community-acquired pneumonia pulmonary complications
}}

{{PMID Auto
|PMID=24939416
|Title=CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}