What you carry at this position in your DNA and what research says about it.
Prostate Cancer Risk: 10/10 evidence, 19 publications.
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Sample genotype (not yours): C/C
Higher Risk of Prostate Cancer
Inheriting two copies of the C allele is associated with a moderately increased risk of developing prostate cancer and chronic obstructive pulmonary disease. It is also linked to slightly higher levels of several white blood cell types.
What this genotype means: Moderately higher risk of prostate cancer; Slightly higher risk of COPD; Slightly higher neutrophil counts.
Sample genotype (not yours): A/A
Lower Risk of Prostate Cancer
Inheriting two copies of the A allele is associated with a lower risk of developing prostate cancer and chronic obstructive pulmonary disease. It is also linked to slightly lower white blood cell counts.
What this genotype means: Lower risk of prostate cancer; Lower risk of COPD; Slightly higher risk of endometrial cancer.
Sample genotype (not yours): C/A
Typical Risk of Prostate Cancer
Inheriting one copy of each allele results in a typical, baseline risk for prostate cancer and chronic obstructive pulmonary disease. Blood cell counts and other associated traits generally fall within the average range.
What this genotype means: Typical risk of prostate cancer; Typical risk of COPD; Average white blood cell counts.
Gene function and biological role
Gene Function: The uncharacterized region LOC124900868 is located on chromosome 4, positioned very close to the ten-eleven translocation 2 (TET2) gene [1]. TET2 encodes a critical methylcytosine dioxygenase enzyme that plays a fundamental role in DNA demethylation and epigenetic regulation [1]. This enzyme is highly active in hematopoietic stem cells, where it helps control the differentiation and proliferation of various blood cell lineages [2]. Disruption or altered expression of TET2 is frequently implicated in myelodysplastic syndromes and various hematological malignancies [2]. Because of its role in cellular differentiation and tumor suppression, genetic variations in this region are often investigated for their broad impact on cancer susceptibility and immune cell counts [3].
Variant Impact: The rs7679673 variant is an intronic single nucleotide polymorphism located approximately 6.3 to 6.5 kilobases upstream of the transcription start site of the TET2 gene [1]. This genetic change is thought to influence the regulatory region of TET2, potentially altering its expression levels in various tissues [4]. Because TET2 is a major tumor suppressor and regulator of blood cell development, this upstream variant has been linked to diverse systemic effects [3]. Large-scale genome-wide association studies have identified rs7679673 as a pleiotropic locus, meaning it simultaneously influences multiple seemingly unrelated traits [3]. Specifically, it is associated with altered risks for prostate cancer, chronic obstructive pulmonary disease, and variations in white blood cell counts [3] [5].
Key Insight: This genetic variant acts as a biological trade-off, lowering the risk of endometrial cancer while increasing the risk of prostate cancer.
Location: TET2. Chromosome 4 · 4q24 · 105.1 Mb
Estimated prevalence by population
Global 25.4%; European 35.1%; African 14.5%; East Asian 3.9%; South Asian 17.2%; Americas 23.8%; Ashkenazi 24.2%; Finnish 22.0%; Middle Eastern 21.1%; Amish 40.6%.
Estimated CC genotype frequency.
Global 47.7%; European 48.3%; African 47.1%; East Asian 31.8%; South Asian 48.6%; Americas 50.0%; Ashkenazi 50.0%; Finnish 49.8%; Middle Eastern 49.7%; Amish 46.2%.
Estimated CA genotype frequency.
Global 26.8%; European 16.6%; African 38.4%; East Asian 64.2%; South Asian 34.2%; Americas 26.2%; Ashkenazi 25.8%; Finnish 28.2%; Middle Eastern 29.2%; Amish 13.1%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Prostate Cancer
Prostate Cancer. Evidence: 10/10. Source: PMID 29892016. ~1.2x Higher Risk.
Gynecological Cancers
Endometrial Cancer. Evidence: 3/10. Source: PMID 24832084. ~25% Lower Risk.
Organ Systems
Respiratory Health
COPD. Evidence: 6/10. Source: PMID 33106845. ~1.1x Higher Risk.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Neutrophil Count. Evidence: 8/10. Source: PMID 27863252. Slightly Higher.
Showing effects for A/A genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 29892016. Lower Risk.
Endometrial Cancer. Evidence: 3/10. Source: PMID 24832084. ~1.15x Higher Risk.
COPD. Evidence: 6/10. Source: PMID 33106845. Lower Risk.
Neutrophil Count. Evidence: 8/10. Source: PMID 27863252. Slightly Lower.
Showing effects for C/A genotype
Prostate Cancer. Evidence: 10/10. Source: PMID 29892016. Typical Risk.
Endometrial Cancer. Evidence: 3/10. Source: PMID 24832084. Typical Risk.
COPD. Evidence: 6/10. Source: PMID 33106845. Typical Risk.
Neutrophil Count. Evidence: 8/10. Source: PMID 27863252. Typical.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Carrying two copies of the C allele at this locus is associated with a moderately elevated risk of developing prostate cancer [1]. Large-scale genetic analyses indicate that this variant may influence the expression of the nearby TET2 tumor suppressor gene, which is involved in regulating cellular growth [2]. In addition to prostate cancer, this genotype is linked to an increased susceptibility to chronic obstructive pulmonary disease (COPD) [3]. It also correlates with higher circulating levels of neutrophils, basophils, and other granulocytes, which are key components of the immune system [4]. Interestingly, while this genotype increases the risk for these conditions, some studies suggest it may offer a protective effect against endometrial cancer [5]. Regular health screenings and discussing family history with a physician can help manage these genetically influenced risks.
Moderately higher risk of prostate cancer; Slightly higher risk of COPD; Slightly higher neutrophil counts.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele at this locus is associated with a reduced risk of developing prostate cancer [1]. This protective effect is thought to stem from optimal regulatory control over the nearby TET2 tumor suppressor gene [2]. In addition to a lower likelihood of prostate cancer, this genotype is linked to a decreased risk of developing chronic obstructive pulmonary disease (COPD) [3]. It also correlates with slightly lower, yet healthy, circulating levels of neutrophils and other granulocytes [4]. However, this genetic profile carries a trade-off, as some research indicates a moderately higher susceptibility to endometrial cancer [5]. Despite this specific trade-off, the overall reduction in more common conditions like prostate cancer and COPD makes this genotype highly favorable [1] [3]. Standard preventive care and routine health screenings remain important for maintaining long-term health.
Lower risk of prostate cancer; Lower risk of COPD; Slightly higher risk of endometrial cancer.
Sample genotype: CA (Heterozygous)
Carrying one C allele and one A allele represents an intermediate genetic profile that generally aligns with average population risks [1]. The presence of a single C allele slightly influences the expression of the nearby TET2 gene, but not to the extent seen in double-carrier genotypes [2]. Consequently, the risk of developing prostate cancer remains close to the baseline average [1]. Similarly, the likelihood of developing chronic obstructive pulmonary disease (COPD) is not significantly elevated compared to the general population [3]. Immune system markers, such as neutrophil and granulocyte counts, typically remain within normal physiological ranges [4]. This balanced genotype also results in a typical risk profile for endometrial cancer, showing no strong protective or harmful deviation [5]. Maintaining standard health checkups and a healthy lifestyle is the most effective way to support overall wellness.
Typical risk of prostate cancer; Typical risk of COPD; Average white blood cell counts.
Variants with shared genetic architecture
rs9790517 · TET2 Gene · Chr 4 · Breast Cancer Risk
rs6763931 · ZBTB38 Gene · Chr 3 · Adult Height
rs2745557 · PTGS2 Gene · Chr 1 · Inflammation and Disease Risk
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia.
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Content updated August 2026.
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