What you carry at this position in your DNA and what research says about it.
Hearing and Bone Health: 8/10 evidence, 23 publications.
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Sample genotype (not yours): A/A
Lower Risk of Hearing Loss and Stronger Bones
Absence of the alanine-producing variant is associated with a lower risk of abnormal bone remodeling in the inner ear. This genotype is linked to typical hearing preservation and higher bone mineral density.
What this genotype means: Lower risk of otosclerosis hearing loss; Higher bone mineral density; Better kidney filtration markers.
Sample genotype (not yours): A/G
Slightly Higher Risk of Hearing Loss and Lower Bone Density
Carrying one copy of the alanine-producing variant is associated with a mild increase in the risk of abnormal bone remodeling in the inner ear. This genotype is also linked to slightly lower bone mineral density and minor changes in kidney filtration markers.
What this genotype means: Slightly increased risk of otosclerosis; Slightly lower bone mineral density; Slightly reduced kidney filtration rate.
Sample genotype (not yours): G/G
Higher Risk of Hearing Loss and Lower Bone Density
Carrying two copies of the alanine-producing variant is associated with an increased risk of abnormal bone remodeling in the inner ear, which can lead to hearing loss. This genotype is also linked to lower bone mineral density and reduced kidney filtration efficiency.
What this genotype means: Increased risk of otosclerosis hearing loss; Lower bone mineral density; Reduced kidney filtration rate.
Gene function and biological role
Gene Function: Bone morphogenetic protein 4, encoded by the BMP4 gene, is a pivotal signaling molecule belonging to the transforming growth factor-beta superfamily. It plays an essential role in early embryonic development, particularly in skeletal formation, tooth development, and organogenesis [1]. During development, it helps orchestrate the patterning of the limbs, craniofacial structures, and the eyes [2]. Proper expression of this gene is critical, as mutations can lead to developmental anomalies such as microphthalmia or cleft palate [2] [3]. In adults, it continues to regulate bone remodeling and tissue homeostasis [4].
Variant Impact: The rs17563 variant is a missense mutation in the BMP4 gene that alters the encoded protein sequence at position 152 from valine to alanine. This specific amino acid substitution, known as p.Val152Ala, directly impacts the mature signaling peptide of the protein. The change from valine to alanine alters the molecular stability and receptor-binding efficiency of the growth factor. Consequently, this variation influences downstream Smad signaling pathways that govern bone density and tissue remodeling [5]. The altered signaling activity has been linked to differences in bone mineralization, inner ear bone remodeling, and susceptibility to skeletal conditions [5] [4].
Key Insight: This variant represents a direct trade-off where the allele that protects against progressive hearing loss also slightly increases the risk of colorectal cancer.
Location: BMP4. Chromosome 14 · 14q22.2 · 54.0 Mb
Estimated prevalence by population
Global 33.7%; European 18.7%; African 56.4%; East Asian 54.8%; South Asian 45.5%; Americas 42.8%; Ashkenazi 27.6%; Finnish 13.8%; Middle Eastern 36.7%; Amish 28.6%.
Estimated AA genotype frequency.
Global 44.8%; European 49.1%; African 37.4%; East Asian 38.4%; South Asian 43.9%; Americas 45.3%; Ashkenazi 49.9%; Finnish 46.7%; Middle Eastern 47.8%; Amish 49.8%.
Estimated AG genotype frequency.
Global 21.5%; European 32.1%; African 6.2%; East Asian 6.7%; South Asian 10.6%; Americas 12.0%; Ashkenazi 22.6%; Finnish 39.4%; Middle Eastern 15.6%; Amish 21.6%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Hearing & Balance
Otosclerosis. Evidence: 3/10. Source: PMID 18021008. Typical Risk.
Bone, Joint & Connective Tissue Health
Bone Mineral Density. Evidence: 8/10. Source: PMID 30598549. Higher Density.
Kidney Function & Disease
Kidney Function. Evidence: 7/10. Source: PMID 34272381. Higher eGFR.
Vision & Eye Health
Refractive Error. Evidence: 6/10. Source: PMID 35022715. Slightly More Myopic.
Cancer & Oncology
Colorectal Cancer
Colorectal Cancer. Evidence: 7/10. Source: PMID 38872215. Increased Risk.
Showing effects for A/G genotype
Otosclerosis. Evidence: 3/10. Source: PMID 18021008. Increased Risk.
Bone Mineral Density. Evidence: 8/10. Source: PMID 30598549. Slightly Lower.
Kidney Function. Evidence: 7/10. Source: PMID 34272381. Slightly Lower eGFR.
Refractive Error. Evidence: 6/10. Source: PMID 35022715. Typical.
Colorectal Cancer. Evidence: 7/10. Source: PMID 38872215. Typical Risk.
Showing effects for G/G genotype
Bone Mineral Density. Evidence: 8/10. Source: PMID 30598549. Lower Density.
Kidney Function. Evidence: 7/10. Source: PMID 34272381. Lower eGFR.
Refractive Error. Evidence: 6/10. Source: PMID 35022715. Slightly Less Myopic.
Colorectal Cancer. Evidence: 7/10. Source: PMID 38872215. Lower Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Maintaining the reference valine amino acid at this position supports optimal bone morphogenetic protein signaling. This genotype is associated with a lower risk of developing otosclerosis, a condition where abnormal bone remodeling in the middle ear causes progressive hearing loss [1]. Genetic studies show that individuals with these alleles tend to have higher heel bone mineral density, indicating robust skeletal strength [2]. Additionally, kidney function markers, including the estimated glomerular filtration rate, are typically higher and more favorable [3]. These individuals also show lower levels of blood urea nitrogen, reflecting efficient waste filtration by the kidneys [3]. While some research links this baseline genotype to a slightly increased susceptibility to colorectal cancer, the overall impact is modest [4]. Craniofacial development, including the timing of primary tooth eruption, also tends to follow a typical timeline [5]. Overall, this genetic profile represents the common, well-functioning baseline for skeletal and metabolic health.
Lower risk of otosclerosis hearing loss; Higher bone mineral density; Better kidney filtration markers.
Sample genotype: AG (Heterozygous)
Having one copy of the alanine variant alters the signaling efficiency of bone morphogenetic protein 4. This alteration is linked to a slightly elevated susceptibility to otosclerosis, a disorder causing progressive hearing loss due to abnormal bone growth in the middle ear [1]. Skeletal studies also associate this genotype with a modest reduction in heel bone mineral density compared to the baseline [2]. Kidney filtration efficiency may be slightly reduced, as indicated by a minor decrease in the estimated glomerular filtration rate [3]. Conversely, this genetic variation is associated with a slightly lower risk of colorectal cancer, demonstrating a complex biological trade-off [4]. The timing of primary tooth eruption in childhood may also be slightly altered [5]. Overall, maintaining a healthy diet and regular hearing checkups can help manage these subtle genetic tendencies.
Slightly increased risk of otosclerosis; Slightly lower bone mineral density; Slightly reduced kidney filtration rate.
Sample genotype: GG (Homozygous)
Two copies of the alanine-producing variant significantly alter the signaling dynamics of bone morphogenetic protein 4. This genetic profile is associated with the highest susceptibility to otosclerosis, a condition where abnormal bone remodeling in the middle ear leads to progressive hearing loss [1]. Bone density studies also show a more pronounced reduction in heel bone mineral density, which may influence overall skeletal strength over time [2]. Kidney function markers are affected, with studies showing a lower estimated glomerular filtration rate and higher blood urea nitrogen levels [3]. On the positive side, this genotype is linked to a lower risk of developing colorectal cancer [4]. On refraction, this genotype sits very slightly toward the long-sighted end of the scale rather than the short-sighted one, though the shift is only about a tenth of a dioptre per copy [5].
Increased risk of otosclerosis hearing loss; Lower bone mineral density; Reduced kidney filtration rate.
Variants with shared genetic architecture
rs4444235 · BMP4 Gene · Chr 14 · Colorectal Cancer Risk
rs2511241 · P2RY2 Gene · Chr 11 · Bone and Kidney Health
rs10224210 · PRKAG2 Gene · Chr 7 · Kidney Health and Gout
TGFB3 and BMP4 polymorphism are associated with isolated tooth agenesis.
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
An atlas of genetic influences on osteoporosis in humans and mice.
Association of bone morphogenetic proteins with otosclerosis.
Content updated August 2026.
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