What you carry at this position in your DNA and what research says about it.
Cancer and Heart Risk: 5/10 evidence, 51 publications.
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Sample genotype (not yours): A/A
Typical Cancer and Heart Risk
Lower susceptibility to several types of cancer and typical cardiovascular health characterize this genetic profile. It represents the most common genetic profile globally.
What this genotype means: Lower susceptibility to several cancers; Typical risk of coronary artery disease; Typical response to cisplatin chemotherapy.
Sample genotype (not yours): A/G
Slightly Higher Cancer and Heart Risk
Slightly increased risk of certain cancers and coronary artery disease is associated with this genetic profile. It may also affect survival outcomes during specific chemotherapy treatments.
What this genotype means: Slightly increased risk of several cancers; Elevated risk of coronary artery disease; Decreased survival with cisplatin chemotherapy.
Sample genotype (not yours): G/G
Higher Cancer and Heart Risk
Elevated risk of several cancers, coronary artery disease, and autoimmune conditions is associated with this genetic profile. It is also linked to reduced survival during cisplatin chemotherapy.
What this genotype means: Increased risk of several cancers; Increased risk of coronary artery disease; Decreased survival with cisplatin chemotherapy.
Gene function and biological role
Gene Function: The MYH7B gene encodes myosin heavy chain 7B, a motor protein primarily active in cardiac and skeletal muscles. Interestingly, this gene hosts hsa-mir-499, a microRNA gene located within one of its introns [1]. This microRNA, known as miR-499, is highly expressed in heart tissue and plays a critical role in regulating cardiac cell survival, muscle development, and inflammatory pathways [1] [2]. It acts by post-transcriptionally suppressing specific target messenger RNAs, thereby fine-tuning protein expression [2]. Variations within this region can therefore influence both cardiovascular health and systemic disease susceptibility [1] [2].
Variant Impact: The rs3746444 variant is a single nucleotide polymorphism located within the precursor sequence of the microRNA miR-499 [3]. This change alters an adenine to a guanine in the stem region of the pre-microRNA molecule [3]. This nucleotide substitution can disrupt the secondary hairpin structure of the pre-microRNA, affecting its stability and maturation process [3] [4]. Consequently, this alteration changes the abundance of mature miR-499 and modifies its binding affinity to target genes [3] [4]. These downstream regulatory shifts impact cellular survival, inflammation, and tumor suppression pathways [4].
Key Insight: A single letter change inside a microRNA gene can alter the regulation of hundreds of downstream proteins, simultaneously affecting heart health and cancer risk.
Location: MYH7B. Chromosome 20 · 20q11.22 · 35.0 Mb
Estimated prevalence by population
Global 66.3%; European 65.7%; African 68.4%; East Asian 73.3%; South Asian 54.2%; Americas 71.6%; Ashkenazi 49.8%; Finnish 64.1%; Middle Eastern 43.1%; Amish 56.9%.
Estimated AA genotype frequency.
Global 30.1%; European 30.7%; African 28.6%; East Asian 24.6%; South Asian 38.9%; Americas 26.0%; Ashkenazi 41.6%; Finnish 31.9%; Middle Eastern 45.1%; Amish 37.1%.
Estimated AG genotype frequency.
Global 3.6%; European 3.6%; African 3.0%; East Asian 2.1%; South Asian 7.0%; Americas 2.4%; Ashkenazi 8.7%; Finnish 4.0%; Middle Eastern 11.8%; Amish 6.0%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
General Cancer Risk
Cancer Susceptibility. Evidence: 4/10. Source: PMID 24085457. Decreased Risk.
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 3/10. Source: PMID 25901206. Typical Risk.
Immunity & Inflammation
Autoimmune Diseases
Autoimmune Disease Risk. Evidence: 4/10. Source: PMID 24327058. Typical Risk.
Pharmacogenomics
Chemotherapy Response
Cisplatin Response. Evidence: 5/10. Source: PMID 25614447. Typical Survival.
Showing effects for A/G genotype
Cancer Susceptibility. Evidence: 4/10. Source: PMID 24085457. ~1.2x Increased Risk.
Coronary Artery Disease. Evidence: 3/10. Source: PMID 25901206. Increased Risk.
Autoimmune Disease Risk. Evidence: 4/10. Source: PMID 24327058. Increased Risk.
Cisplatin Response. Evidence: 5/10. Source: PMID 25614447. Decreased Survival.
Showing effects for G/G genotype
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the A allele are associated with a lower susceptibility to various cancers, including breast, gastric, and lung cancers, compared to carrying the G allele [1] [2]. This protective effect is thought to stem from the stable secondary structure of the miR-499 microRNA, which allows for normal maturation and optimal regulation of target genes involved in cell division and tumor suppression [1]. Additionally, this genotype is linked to a typical risk of coronary artery disease and autoimmune conditions like rheumatoid arthritis [3] [4]. For individuals undergoing platinum-based chemotherapy such as cisplatin, this genetic profile is associated with typical survival outcomes [5]. Overall, this genotype represents the baseline, lower-risk state for the various health conditions influenced by this microRNA variant [1] [2] [3].
Lower susceptibility to several cancers; Typical risk of coronary artery disease; Typical response to cisplatin chemotherapy.
Sample genotype: AG (Heterozygous)
One copy of the G allele is linked to an approximately 1.2-fold higher risk of developing various cancers, particularly breast, gastric, and lung cancers [1] [2]. This genetic variation alters the structure of the miR-499 microRNA, which can impair its maturation and alter the regulation of genes that control cell growth and inflammation [1]. Furthermore, studies suggest this genotype is associated with an elevated risk of coronary artery disease and autoimmune disorders such as rheumatoid arthritis [3] [4]. In the context of cancer treatment, individuals with this genotype who receive platinum-based chemotherapies like cisplatin have shown decreased survival rates in clinical studies [5]. Maintaining a healthy lifestyle and undergoing recommended routine health screenings can help manage these slightly elevated risks [1] [3].
Slightly increased risk of several cancers; Elevated risk of coronary artery disease; Decreased survival with cisplatin chemotherapy.
Sample genotype: GG (Homozygous)
Homozygosity for the G allele is associated with an approximately 1.2-fold or higher risk of developing various cancers, including breast, gastric, and lung cancers [1] [2]. The double substitution disrupts the hairpin structure of pre-miR-499, significantly altering the expression of mature microRNAs that regulate cell proliferation and tumor suppression [1]. This genotype is also associated with a significantly increased susceptibility to coronary artery disease and autoimmune diseases like rheumatoid arthritis [3] [4]. Additionally, clinical research indicates that G/G homozygotes undergoing platinum-based chemotherapy, such as cisplatin, experience decreased survival outcomes compared to those with the typical genotype [5]. While these genetic associations indicate elevated susceptibility, they represent only one factor in overall health, and proactive lifestyle choices remain highly effective [1] [3].
Increased risk of several cancers; Increased risk of coronary artery disease; Decreased survival with cisplatin chemotherapy.
Variants with shared genetic architecture
rs11556218 · IL16 Gene · Chr 15 · Inflammatory Disease Risk
rs1136410 · PARP1 Gene · Chr 1 · DNA Repair and Disease Risk
rs10411210 · RHPN2 Gene · Chr 19 · Colorectal Cancer Risk
Association of a MiR-499 SNP and risk of congenital heart disease in a Chinese population.
Influence of microRNA-related polymorphisms on clinical outcomes in coronary artery disease.
An A/G polymorphism rs3746444 in miR-499 is associated with increased cancer risk: a meta-analysis.
MicroRNA-499 rs3746444 polymorphism and autoimmune diseases risk: a meta-analysis.
Content updated August 2026.
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