What you carry at this position in your DNA and what research says about it.
Hormone-Related Health Risks: 6/10 evidence, 28 publications.
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Sample genotype (not yours): A/A
Typical Hormone-Related Health Risks
Typical hormone levels and standard risk for hormone-sensitive conditions are expected. Standard response to paclitaxel chemotherapy is also typical.
What this genotype means: Typical hormone-sensitive cancer risk; Standard paclitaxel side effect profile.
Sample genotype (not yours): A/G
Slightly Higher Hormone-Related Risks
Slightly higher risk for hormone-sensitive cancers and late-onset Alzheimer's disease is possible. There is also an increased risk of severe neuropathy if treated with paclitaxel.
What this genotype means: Slightly increased risk of hormone-sensitive cancers; Higher risk of paclitaxel-induced neuropathy; Slightly increased height.
Sample genotype (not yours): G/G
Higher Hormone-Related Risks
Higher risk for hormone-sensitive cancers and late-onset Alzheimer's disease is possible. There is also a significantly increased risk of severe neuropathy if treated with paclitaxel.
What this genotype means: Increased risk of hormone-sensitive cancers; Significantly higher risk of paclitaxel-induced neuropathy; Slightly increased height.
Gene function and biological role
Gene Function: The CYP17A1 gene encodes an enzyme crucial for steroid hormone biosynthesis, specifically catalyzing both 17alpha-hydroxylase and 17,20-lyase activities [1]. This enzyme is essential for producing mineralocorticoids, glucocorticoids, and sex hormones like androgens and estrogens [2]. Because it regulates sex steroid levels, variations in this gene are frequently studied in relation to hormone-dependent conditions [3]. These conditions include breast, prostate, and endometrial cancers, as well as reproductive disorders like polycystic ovary syndrome [4]. The gene is primarily active in the adrenal glands, ovaries, and testes, where hormone production is concentrated [2].
Variant Impact: The rs743572 variant is located in the 5' untranslated promoter region of the CYP17A1 gene, where it is thought to influence gene expression levels [5]. The G allele, often referred to as the C allele in older literature, is associated with altered transcriptional activity and potentially higher sex hormone levels [6]. Researchers have investigated this change for its potential role in modifying susceptibility to hormone-sensitive cancers [3]. It has also been evaluated for its impact on cognitive health and response to certain chemotherapy medications [7].
Key Insight: This single genetic letter change in a hormone-regulating gene can simultaneously influence adult height, cancer susceptibility, and the severity of nerve pain during chemotherapy.
Location: CYP17A1. Chromosome 10 · 10q24.32 · 102.8 Mb
Estimated prevalence by population
Global 37.3%; European 36.0%; African 39.7%; East Asian 19.3%; South Asian 41.8%; Americas 36.6%; Ashkenazi 36.2%; Finnish 41.7%; Middle Eastern 38.7%; Amish 64.4%.
Estimated AA genotype frequency.
Global 47.3%; European 48.0%; African 46.6%; East Asian 49.3%; South Asian 45.7%; Americas 47.8%; Ashkenazi 47.9%; Finnish 45.8%; Middle Eastern 47.0%; Amish 31.7%.
Estimated AG genotype frequency.
Global 15.4%; European 16.0%; African 13.7%; East Asian 31.4%; South Asian 12.5%; Americas 15.6%; Ashkenazi 15.9%; Finnish 12.6%; Middle Eastern 14.3%; Amish 3.9%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Pharmacogenomics
Chemotherapy Response
Paclitaxel Neuropathy. Evidence: 5/10. Source: PMID 38918659. Typical Risk.
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 3/10. Source: PMID 26940238. Typical Risk.
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 4/10. Source: PMID 21656827. Typical Risk.
Breast Cancer
Breast Cancer. Evidence: 4/10. Source: PMID 26407154. Typical Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 6/10. Source: PMID 36224396. Typical.
Showing effects for A/G genotype
Paclitaxel Neuropathy. Evidence: 5/10. Source: PMID 38918659. Increased Severity.
Alzheimer's Disease. Evidence: 3/10. Source: PMID 26940238. Increased Risk.
Prostate Cancer. Evidence: 4/10. Source: PMID 21656827. Increased Risk.
Breast Cancer. Evidence: 4/10. Source: PMID 26407154. Increased Risk.
Height. Evidence: 6/10. Source: PMID 36224396. Slightly Taller.
Showing effects for G/G genotype
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the common A allele are present at this locus. This genetic profile is associated with baseline levels of steroid hormones, including estrogen and testosterone [1]. Consequently, there is no elevated risk for hormone-dependent conditions such as breast or prostate cancer from this specific variant [2]. Cognitive health risks, including the likelihood of developing late-onset Alzheimer's disease, remain at the typical population baseline [3]. For those undergoing chemotherapy, this genotype is linked to a standard, lower risk of developing severe paclitaxel-induced peripheral neuropathy [4]. Overall, this profile represents the most common genetic baseline across many global populations.
Typical hormone-sensitive cancer risk; Standard paclitaxel side effect profile.
Sample genotype: AG (Heterozygous)
One copy of the G allele is carried at this locus, which may influence steroid hormone production. This genetic variation is linked to a slightly increased susceptibility to hormone-dependent conditions, including breast and prostate cancers [1]. Research also indicates a potential increase in the risk of developing late-onset Alzheimer's disease, particularly when other risk factors are present [2]. In the context of cancer treatment, carrying this allele is associated with a higher likelihood of experiencing severe peripheral neuropathy and body aches during paclitaxel-based chemotherapy [3]. Some studies suggest this variant might also influence susceptibility to uterine fibroids or endometriosis [4]. Height measurements may be slightly increased compared to those with the typical genotype [5].
Slightly increased risk of hormone-sensitive cancers; Higher risk of paclitaxel-induced neuropathy; Slightly increased height.
Sample genotype: GG (Homozygous)
Two copies of the G allele are carried at this locus, which is associated with altered promoter activity of the hormone-producing gene. This homozygous profile is linked to an elevated risk of hormone-dependent conditions, such as breast and prostate cancers [1]. There is also a documented association with an increased risk of late-onset Alzheimer's disease in certain populations [2]. For individuals undergoing chemotherapy, this genotype is associated with a significantly higher risk of developing severe peripheral neuropathy and body aches when treated with paclitaxel [3]. Susceptibility to other hormone-related conditions, such as uterine fibroids, may also be elevated [4]. Additionally, large-scale genetic studies associate this genotype with slightly increased height [5].
Increased risk of hormone-sensitive cancers; Significantly higher risk of paclitaxel-induced neuropathy; Slightly increased height.
Variants with shared genetic architecture
rs1004467 · CYP17A1 Gene · Chr 10 · Blood Pressure and Heart Risk
rs17115100 · CYP17A1 Gene · Chr 10 · Heart Attack Risk
rs6163 · CYP17A1 Gene · Chr 10 · Body Fat Distribution
CYP17 gene polymorphisms and prostate cancer risk: a meta-analysis based on 38 independent studies.
Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas.
The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Solitary and multiple uterine leiomyomas among Caucasian women: two different disorders?
A saturated map of common genetic variants associated with human height.
Content updated August 2026.
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