What you carry at this position in your DNA and what research says about it.
Metabolic Health: 9/10 evidence, 46 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): T/T
Higher Risk of Type 2 Diabetes and Central Obesity
Elevated visceral fat accumulation, higher blood pressure, and an increased risk of type 2 diabetes are associated with this profile. Although overall body weight may be slightly lower, fat tends to store around abdominal organs.
What this genotype means: Higher risk of type 2 diabetes; Greater tendency for abdominal fat storage.
Sample genotype (not yours): C/C
Lower Risk of Type 2 Diabetes and Favorable Fat Distribution
Lower risk of type 2 diabetes, healthier fat distribution, and lower blood pressure are key features of this profile. Although overall body weight may be slightly higher, fat is stored safely under the skin rather than around vital organs.
What this genotype means: Lower risk of type 2 diabetes; Favorable subcutaneous fat storage pattern.
Sample genotype (not yours): T/C
Typical Metabolic Risk and Balanced Fat Distribution
A balanced genetic influence characterizes this profile, resulting in typical body fat distribution and average metabolic health. Risks for type 2 diabetes, blood pressure, and lipid levels remain close to the population average.
What this genotype means: Average risk of metabolic complications; Balanced subcutaneous and visceral fat distribution.
Gene function and biological role
Gene Function: BCL2 encodes the B-cell lymphoma 2 protein, which is a well-known regulator of apoptosis or programmed cell death [1]. It acts as an anti-apoptotic factor, helping cells survive under stress by blocking cell death pathways [1]. Beyond its classic role in cell survival, BCL2 has emerged as a key player in metabolic health and adipose tissue development [2]. It is highly active during the differentiation of pre-adipocytes into mature fat cells [2]. Research shows that BCL2 expression levels in fat tissue influence how and where the body stores fat [2].
Variant Impact: An intronic change within the BCL2 gene alters how the body regulates fat cell survival and distribution. The C allele acts as an enhancer by binding specific transcription factors, which significantly increases BCL2 expression in subcutaneous fat tissue [2]. Conversely, the T allele lacks this binding capability, resulting in lower BCL2 expression [2]. Lower BCL2 levels lead to increased cell death in developing fat cells, which alters fat storage patterns [2]. This molecular shift uncouples overall body weight from metabolic complications, making the variant a key determinant of metabolic health [3].
Key Insight: This variant uncouples obesity from its typical metabolic harms, meaning some carriers can have a higher BMI but a healthier metabolic profile.
Location: BCL2. Chromosome 18 · 18q21.33 · 63.2 Mb
Estimated prevalence by population
Global 43.0%; European 38.5%; African 59.9%; East Asian 27.5%; South Asian 19.5%; Americas 43.5%; Ashkenazi 35.8%; Finnish 25.6%; Middle Eastern 41.4%; Amish 45.4%.
Estimated TT genotype frequency.
Global 43.9%; European 47.1%; African 35.0%; East Asian 49.9%; South Asian 49.3%; Americas 44.9%; Ashkenazi 48.1%; Finnish 50.0%; Middle Eastern 45.9%; Amish 43.9%.
Estimated TC genotype frequency.
Global 13.1%; European 14.4%; African 5.1%; East Asian 22.6%; South Asian 31.1%; Americas 11.6%; Ashkenazi 16.1%; Finnish 24.5%; Middle Eastern 12.7%; Amish 10.6%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 9/10. Source: PMID 32541925. Increased Risk.
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Increased Ratio.
Body Mass Index. Evidence: 8/10. Source: PMID 25673413. Slightly Lower BMI.
Hypertension
Blood Pressure. Evidence: 8/10. Source: PMID 30224653. Increased BP.
Lipids & Cholesterol
Triglycerides. Evidence: 8/10. Source: PMID 30275531. Increased Levels.
HDL Cholesterol. Evidence: 8/10. Source: PMID 34887591. Slightly Lower HDL.
Showing effects for C/C genotype
Type 2 Diabetes. Evidence: 9/10. Source: PMID 32541925. Lower Risk.
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Lower Ratio.
Body Mass Index. Evidence: 8/10. Source: PMID 25673413. Slightly Higher BMI.
Blood Pressure. Evidence: 8/10. Source: PMID 30224653. Lower BP.
Triglycerides. Evidence: 8/10. Source: PMID 30275531. Lower Levels.
HDL Cholesterol. Evidence: 8/10. Source: PMID 34887591. Slightly Higher HDL.
Showing effects for T/C genotype
Type 2 Diabetes. Evidence: 9/10. Source: PMID 32541925. Typical Risk.
Waist-to-Hip Ratio. Evidence: 8/10. Source: PMID 30239722. Typical Ratio.
Body Mass Index. Evidence: 8/10. Source: PMID 25673413. Typical BMI.
Blood Pressure. Evidence: 8/10. Source: PMID 30224653. Typical BP.
Triglycerides. Evidence: 8/10. Source: PMID 30275531. Typical Levels.
HDL Cholesterol. Evidence: 8/10. Source: PMID 34887591. Typical HDL.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Type 2 diabetes risk is significantly influenced by this genetic locus, with the T/T genotype representing the higher-risk category [1]. This genetic profile is linked to increased waist-to-hip ratio, indicating a tendency to store fat viscerally around internal organs rather than subcutaneously [2]. Visceral fat accumulation is a known driver of insulin resistance and metabolic dysfunction [2]. Consequently, individuals with this genotype often exhibit higher fasting insulin and glucose levels [3]. Additionally, studies have linked this genotype to elevated systolic blood pressure and higher blood triglyceride levels [4] [5]. While overall body mass index (BMI) may actually be slightly lower, the metabolic profile is less favorable [1]. Managing diet, physical activity, and cardiovascular health is particularly beneficial for individuals carrying this genotype.
Higher risk of type 2 diabetes; Greater tendency for abdominal fat storage.
Sample genotype: CC (Homozygous)
Protection against type 2 diabetes and metabolic syndrome is significantly enhanced with this genotype [1]. This genotype uncouples body weight from metabolic harm, meaning that even with a slightly higher overall body mass index (BMI), metabolic health remains favorable [2]. Fat is preferentially stored as subcutaneous tissue under the skin rather than as harmful visceral fat around abdominal organs, resulting in a lower waist-to-hip ratio [3]. This healthy fat distribution supports better insulin sensitivity and lower fasting insulin levels [2]. Furthermore, studies show that this profile is associated with lower systolic blood pressure and lower blood triglycerides [4] [5]. HDL cholesterol levels also tend to be higher, contributing to a better cardiovascular profile [5]. Overall, this genetic makeup promotes a highly resilient metabolic system.
Lower risk of type 2 diabetes; Favorable subcutaneous fat storage pattern.
Sample genotype: TC (Heterozygous)
Balanced fat distribution and typical metabolic rates are characteristic of this heterozygous profile. The presence of one C allele provides moderate protection against central fat storage, balancing the T allele's tendency toward visceral fat accumulation [1]. Insulin sensitivity, blood glucose levels, and blood pressure typically remain within the normal range, assuming a healthy lifestyle [2]. While overall body mass index (BMI) and body weight are average, fat distribution is generally balanced between subcutaneous and visceral depots [1]. Triglycerides and HDL cholesterol levels are also typically stable [3]. This intermediate status means that lifestyle factors like diet and exercise play the primary role in determining metabolic outcomes.
Average risk of metabolic complications; Balanced subcutaneous and visceral fat distribution.
Variants with shared genetic architecture
rs17758695 · BCL2 Gene · Chr 18 · Clonal Hematopoiesis
rs2279115 · BCL2 Gene · Chr 18 · Cancer Risk and Prognosis
rs9472138 · POLR1C Gene · Chr 6 · Type 2 Diabetes Risk
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
The power of genetic diversity in genome-wide association studies of lipids.
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com