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rs10046

Chromosome : 15 , Position: 51210789
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleG
Alternative Alleles:  A

Summary

[hypertension

[PMID 19152063] rs10046(C;C) associated with miscarriages (P = 0.017)


[PMID 19366906] BRCA1 Breast Cancer Risk Is Modified by CYP19 Polymorphisms in Ashkenazi Jews


[PMID 19573564] Effect of the cytochrome P450 19 (aromatase) gene polymorphism on personality traits in healthy subjects


[PMID 19921206] Association of polymorphisms in CYP19A1 and CYP3A4 genes with lower urinary tract symptoms, prostate volume, uroflow and PSA in a population-based sample


[PMID 20144226] A polymorphism at the 3′-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuvant letrozole


[PMID 19952760] Polymorphisms in estrogen related genes may modify the protective effect of isoflavones against prostate cancer risk in Japanese men

[PMID 20432167] Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians

[PMID 20586553] Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis

[PMID 20797716] Epistasis between CYP19A1 and ESR1 polymorphisms is associated with premature ovarian failure


[PMID 21790896] Genetic and environmental predictors, endogenous hormones and growth factors and risk of estrogen receptor-positive breast cancer in Japanese women


[PMID 22511967] Potential Role of Aromatase over Estrogen Receptor Gene Polymorphisms in Migraine Susceptibility: A Case Control Study from North India

[PMID 15199113] Polymorphisms associated with circulating sex hormone levels in postmenopausal women.

[PMID 16412218] Multilocus analysis of SNP and metabolic data within a given pathway.

[PMID 17615053] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.

[PMID 17893373] Sex and body mass index specific regulation of blood pressure by CYP19A1 gene variants.

[PMID 17903296] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 18049890] Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients.

[PMID 18086758] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.

[PMID 18159088] Association of FSH receptor and CYP19A1 gene variations with sterility and ovarian hyperstimulation syndrome.

[PMID 18199708] Haplotype analyses of CYP19A1 gene variants and breast cancer risk: results from the Shanghai Breast Cancer Study.

[PMID 18245543] A single-nucleotide polymorphism in the aromatase gene is associated with the efficacy of the aromatase inhibitor letrozole in advanced breast carcinoma.

[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18622258] Association of genetic polymorphisms in CYP19A1 and blood levels of sex hormones among postmenopausal Chinese women.

[PMID 18628428] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.

[PMID 18629629] Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women.

[PMID 18636124] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.

[PMID 18941913] Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.

[PMID 19015200] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

[PMID 19064562] Genetic variation in CYP19A1 and risk of breast cancer and fibrocystic breast conditions among women in Shanghai, China.

[PMID 19630952] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

[PMID 19794821] Anastrozole Use in Early Stage Breast Cancer of Post-Menopausal Women.

[PMID 21269619] Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.


[PMID 23342035] Associations between Aromatase CYP19 rs10046 Polymorphism and Breast Cancer Risk: From a Case-Control to a Meta-Analysis of 20,098 Subjects


[PMID 23129173] Plasma estrone sulfate concentrations and genetic variation at the CYP19A1 locus in postmenopausal women with early breast cancer treated with letrozole


[PMID 23700878] Research on aromatase gene (CYP19A1) polymorphisms as a predictor of endocrine therapy effectiveness in breast cancer


[PMID 24402127] Analysis of the rs10046 Polymorphism of Aromatase (CYP19) in Premenopausal Onset of Human Breast Cancer


[PMID 22633539] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.


[PMID 23669293] CYP19A1 gene polymorphisms and risk of lung cancer.


[PMID 23809139] Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis.


[PMID 24968701] CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women


[PMID 24274352] Green tea consumption and breast cancer risk in Japanese women: a case-control study


[PMID 25109722] Role of genetic & environment risk factors in the aetiology of colorectal cancer in Malaysia


[PMID 26415088] Sex and Obesity-specific Association of Aromatase (CYP19A1) Gene Variant with Apolipoprotein B and Hypertension


[PMID 26463708] Association of Variants in Candidate Genes with Lipid Profiles in Women with Early Breast Cancer on Adjuvant Aromatase Inhibitor Therapy

More Information

rs10046 is a SNP in the CYP19A1 gene. It can be used as genetic marker for gender-specific essential hypertension (EH) [R].

Both systolic blood pressure (SBP) and diastolic blood pressure (DBP) levels were higher in male subjects with the A/A genotype than in male subjects without A/A genotype [R].

The G/G genotype was associated with a greater frequency of miscarriages (P = 0.017) [R].

Serum prostate specific antigen (PSA) (a specific benign prostatic hyperplasia parameter) was higher in men carrying the heterozygous genotype than in those with the GG-genotype (P = 0.012) [R].

Those homozygous for the major allele ''G'' were at a lower risk of prostate cancer despite less than 60 mg isoflavones/day [R].

The frequencies of heterozygous GA and variant AA genotypes were significantly higher (p<0.001) in migraine patients as compared to healthy controls. GA is associated with a migraine without aura (MO) only and AA genotype is associated with migraines without and with aura (MA) [R].

AG + AA genotypes were associated with both overall cancer risk (AA + AG vs. AA a OR = 1.73) and premenopausal cancer risk (AA+ AG vs. AA a OR = 1.78) [R]. 

A significantly increased number of patients with the AA genotype develop breast cancer under the age of 50 (41.8% of AA patients, compared to 26.6% of G carriers; p = 0.018) [R].

''A'' allele was marginally associated with increased risk of endometrial cancer (OR =1.20, p=0.06) [R].

GG genotype in females was associated with higher apolipoprotein (apo) B than GA + AA genotypes, independent of age and body mass index (BMI). Among premenopausal females, insulin levels (p = 0.007), BMI (p = 0.05) and homeostasis model assessment (HOMA) index (p = 0.034) were higher in ''G'' homozygotes than in ''A'' allele carriers. However, AA genotype contributed to hypertension at an OR 1.80, independently of age, body mass index (BMI), and other confounders, in males alone [R].

 

Population Alleles Frequency

ethhicity frequency
African/African-American 0.2409
Latino/Admixed American 0.3337
Ashkenazi Jewish 0.5207
East Asian 0.5226
European 0.5417
Other (population not assigned) 0.4936

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