What you carry at this position in your DNA and what research says about it.
Colorectal Cancer Risk: 8/10 evidence, 34 publications.
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Sample genotype (not yours): T/T
Lower Colorectal Cancer Risk
Carrying two copies of the T allele is associated with a lower risk of developing colorectal cancer and colon polyps. However, this genotype is linked to a slightly higher risk of bone fractures.
What this genotype means: Lower risk of colorectal cancer; Lower risk of benign colon polyps; Slightly higher risk of bone fractures.
Sample genotype (not yours): C/C
Increased Colorectal Cancer Risk
Carrying two copies of the C allele is associated with the highest risk of colorectal cancer and colon polyps. Conversely, this genotype is linked to a lower risk of bone fractures.
What this genotype means: Higher risk of colorectal cancer; Higher risk of colon polyps; Lower risk of bone fractures.
Sample genotype (not yours): T/C
Slightly Increased Colorectal Cancer Risk
Carrying one copy of the C allele is linked to a slightly higher risk of developing colorectal cancer and colon polyps. It also carries a minor increase in bone fracture risk.
What this genotype means: Slightly higher risk of colorectal cancer; Slightly higher risk of colon polyps; Slightly higher risk of bone fractures.
Gene function and biological role
Gene Function: The BMP4 gene encodes bone morphogenetic protein 4, a member of the transforming growth factor-beta superfamily. This protein plays a critical role in embryonic development, particularly in bone and cartilage formation. It is also involved in regulating cellular growth, differentiation, and apoptosis in various tissues, including the colon. Altered expression of BMP4 has been linked to the development of colorectal tumors and adenomas [1]. Additionally, BMP4 signaling is important for maintaining tissue homeostasis in the lungs and skeletal system.
Variant Impact: The rs4444235 variant is an intergenic single nucleotide polymorphism located near the BMP4 gene on chromosome 14. This genetic change acts as a cis-regulatory element that modulates the expression levels of BMP4 [1]. Studies show that the C allele is associated with altered BMP4 expression, which influences susceptibility to colorectal cancer [2]. Because BMP4 is active across multiple organ systems, this variant also impacts bone mineral density and pulmonary function.
Key Insight: A single genetic variant near the BMP4 gene can simultaneously influence your risk for colorectal cancer, bone fractures, and lung function due to the protein's widespread role in tissue development.
Location: BMP4. Chromosome 14 · 14q22.2 · 53.9 Mb
Estimated prevalence by population
Global 32.9%; European 28.9%; African 44.6%; East Asian 26.0%; South Asian 24.2%; Americas 27.0%; Ashkenazi 19.5%; Finnish 34.0%; Middle Eastern 17.8%; Amish 29.1%.
Estimated TT genotype frequency.
Global 48.2%; European 49.7%; African 44.3%; East Asian 50.0%; South Asian 50.0%; Americas 49.9%; Ashkenazi 49.3%; Finnish 48.6%; Middle Eastern 48.8%; Amish 49.7%.
Estimated TC genotype frequency.
Global 18.9%; European 21.4%; African 11.0%; East Asian 24.1%; South Asian 25.8%; Americas 23.0%; Ashkenazi 31.2%; Finnish 17.4%; Middle Eastern 33.4%; Amish 21.2%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cancer & Oncology
Colorectal Cancer
Colorectal Cancer. Evidence: 8/10. Source: PMID 19011631. Lower Risk.
Colon Polyps. Evidence: 6/10. Source: PMID 39024449. Lower Risk.
Organ Systems
Bone, Joint & Connective Tissue Health
Bone Fracture Risk. Evidence: 6/10. Source: PMID 37919453. ~1.08x Higher Risk.
Respiratory Health
Lung Function. Evidence: 3/10. Source: PMID 30061609. Higher FEV1/FVC Ratio.
Showing effects for C/C genotype
Colorectal Cancer. Evidence: 8/10. Source: PMID 19011631. ~1.2x Higher Risk.
Colon Polyps. Evidence: 6/10. Source: PMID 39024449. Higher Risk.
Bone Fracture Risk. Evidence: 6/10. Source: PMID 37919453. Lower Risk.
Lung Function. Evidence: 3/10. Source: PMID 30061609. Lower FEV1/FVC Ratio.
Showing effects for T/C genotype
Colorectal Cancer. Evidence: 8/10. Source: PMID 19011631. ~1.1x Increased Risk.
Colon Polyps. Evidence: 6/10. Source: PMID 39024449. Increased Risk.
Bone Fracture Risk. Evidence: 6/10. Source: PMID 37919453. ~1.04x Increased Risk.
Lung Function. Evidence: 3/10. Source: PMID 30061609. Typical.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
This genotype is highly protective against colorectal malignancies, as it lacks the risk-associated C allele [1]. Large-scale genetic studies have consistently shown that individuals with two T alleles have a lower incidence of both benign colon polyps and colorectal cancer [2]. This protective effect is thought to be mediated by optimal regulation of the BMP4 gene, which maintains healthy cell growth in the colon lining [3]. On the skeletal front, however, the T allele is associated with a slightly higher risk of forearm fractures [4]. It is also linked to a higher FEV1/FVC ratio, which is generally indicative of healthy lung function [5]. Overall, the significant reduction in colorectal cancer risk makes this a highly favorable genetic profile.
Lower risk of colorectal cancer; Lower risk of benign colon polyps; Slightly higher risk of bone fractures; Better lung function ratio.
Sample genotype: CC (Homozygous)
This genotype is associated with the highest genetic susceptibility to colorectal cancer at this locus, carrying two copies of the risk-associated C allele [1]. Meta-analyses have demonstrated a robust link between the C/C genotype and an increased likelihood of developing both benign colon polyps and colorectal tumors [2]. The genetic variation alters the regulation of the BMP4 gene, which is crucial for controlling cell division and tissue homeostasis in the colon [3]. On the positive side, having zero copies of the T allele provides a protective effect against bone fractures, resulting in a lower fracture risk [4]. However, this genotype is also associated with a lower FEV1/FVC ratio, which can be a marker of reduced lung function [5].
Higher risk of colorectal cancer; Higher risk of colon polyps; Lower risk of bone fractures; Slightly lower lung function ratio.
Sample genotype: TC (Heterozygous)
This genotype represents an intermediate risk profile due to the presence of one risk-associated C allele and one T allele. Research indicates that having one C allele increases the odds of developing colorectal cancer by approximately 10% compared to the protective T/T genotype [1]. This increase in risk is also observed for benign colon polyps, which can sometimes serve as precursors to cancer [2]. The C allele is believed to alter the expression of the BMP4 gene, disrupting normal cellular regulation in the intestinal tract [3]. Concurrently, carrying one T allele is associated with a very slight increase in bone fracture risk [4]. Lung function measurements for this genotype typically fall within the average range [5].
Slightly higher risk of colorectal cancer; Slightly higher risk of colon polyps; Slightly higher risk of bone fractures.
Variants with shared genetic architecture
rs17563 · BMP4 Gene · Chr 14 · Hearing and Bone Health
rs10505477 · CASC8 Gene · Chr 8 · Cancer Susceptibility Risk
rs16892766 · EIF3H Gene · Chr 8 · Colorectal Cancer Risk
The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4.
An atlas of genetic determinants of forearm fracture.
Content updated August 2026.
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