{{Rsnum
|rsid=4646
|Gene=CYP19A1
|Chromosome=15
|position=51210647
|Orientation=plus
|GMAF=0.3214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=CYP19A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 4.4 | 38.1 | 57.5
| HCB | 9.5 | 40.1 | 50.4
| JPT | 6.2 | 39.8 | 54.0
| YRI | 10.2 | 49.7 | 40.1
| ASW | 7.0 | 47.4 | 45.6
| CHB | 9.5 | 40.1 | 50.4
| CHD | 11.0 | 47.7 | 41.3
| GIH | 15.8 | 51.5 | 32.7
| LWK | 8.2 | 44.5 | 47.3
| MEX | 20.7 | 51.7 | 27.6
| MKK | 6.4 | 44.9 | 48.7
| TSI | 11.8 | 28.4 | 59.8
| HapMapRevision=28
}}
{{PMID Auto
|PMID=19366906
|Title=BRCA1 Breast Cancer Risk Is Modified by CYP19 Polymorphisms in Ashkenazi Jews
}}

{{PMID Auto
|PMID=19438456
|Title=Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
}}

{{PMID Auto
|PMID=19478482
|Title=Genetic variation of CYP19 (aromatase) gene influences age at onset of Alzheimer's disease in women
}}

{{PharmGKB
|RSID=rs4646
|Name_s=
|Gene_s=CYP19A1
|Feature=3' UTR
|Evidence=PubMed ID:18245543
|Annotation=A study in 67 patients with hormone receptor-positive metastatic breast cancer treated with letrozole, the presence of this SNP in the 3' untranslated region of the CYP19A1 gene is associated with improved treatment efficacy.
|Drugs=letrozole
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162191296
}}

{{PMID|20144226|OA=1
}} [[rs4646]](A) allele carriers with [[breast cancer]] being treated with [[letrozole]] are reported to do worse than [[rs4646]](C;C) patients, based on a study of (only) 95 women.

{{PMID Auto
|PMID=20960227
|Title=Genetic variation in the androgen estrogen conversion pathway in relation to breast cancer prognosticators
}}

{{PMID Auto
|PMID=22511967
|Title=Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India
|OA=1
}}

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

{{PMID Auto
|PMID=18049890
|Title=Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients.
}}

{{PMID Auto
|PMID=18199708
|Title=Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.
|OA=1
}}

{{PMID Auto
|PMID=18274619
|Title=Association study of aromatase gene (CYP19A1) in essential hypertension.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=18622258
|Title=Association of genetic polymorphisms in CYP19A1 and blood levels of sex hormones among postmenopausal Chinese women.
|OA=1
}}

{{PMID Auto
|PMID=18654799
|Title=Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.
|OA=1
}}

{{PMID Auto
|PMID=18941913
|Title=Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=19015200
|Title=Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
|OA=1
}}

{{PMID Auto
|PMID=19064562
|Title=Genetic variation in CYP19A1 and risk of breast cancer and fibrocystic breast conditions among women in Shanghai, China.
|OA=1
}}

{{PMID Auto
|PMID=19152063
|Title=Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage.
}}

{{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=19194457
|Title=Association between arterial stiffness and variations in oestrogen-related genes.
|OA=1
}}

{{PMID Auto
|PMID=19794821
|Title=Anastrozole Use in Early Stage Breast Cancer of Post-Menopausal Women.
|OA=1
}}

{{PMID Auto
|PMID=20819792
|Title=Association of CYP19 and ESR1 pleiotropic genes with human longevity.
}}

{{PMID Auto
|PMID=21269619
|Title=Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.
}}

{{PMID Auto
|PMID=22638611
|Title=Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4646
|overall_frequency_n=89
|overall_frequency_d=128
|overall_frequency=0.695312
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=78
|n_articles=3
|n_articles_annotated=3
|in_pharmgkb=Y
|autoscore=1
|webscore=N
|summary_short=associated with response to a drug letrozole in cancer patients
}}

{{PMID Auto
|PMID=23129173
|Title=Plasma estrone sulfate concentrations and genetic variation at the CYP19A1 locus in postmenopausal women with early breast cancer treated with letrozole
|OA=1
}}

{{PMID Auto
|PMID=23700878
|Title=Research on aromatase gene (CYP19A1) polymorphisms as a predictor of endocrine therapy effectiveness in breast cancer
}}

{{PMID Auto
|PMID=24324964
|Title=CYP19 Genetic Polymorphism Haplotype AASA Is Associated with a Poor Prognosis in Premenopausal Women with Lymph Node-Negative, Hormone Receptor-Positive Breast Cancer
|OA=1
}}

{{PMID Auto
|PMID=23408108
|Title=Regulation of aromatase expression in breast cancer treated with anastrozole neoadjuvant therapy.
|OA=1
}}

{{PMID Auto
|PMID=23540392
|Title=Impact of aromatase genetic variation on hormone levels and global outcome after severe TBI.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}