What you carry at this position in your DNA and what research says about it.
Body Fat Distribution: 10/10 evidence, 7 publications.
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Sample genotype (not yours): A/A
Higher Waist-to-Hip Ratio but More Active
Two copies of the A allele significantly reduce lower-body fat storage, leading to a higher waist-to-hip ratio. This is accompanied by a genetic predisposition toward higher physical activity.
What this genotype means: Reduced gluteofemoral fat storage capacity; Higher waist-to-hip ratio; Increased natural drive for physical activity.
Sample genotype (not yours): A/C
A single copy of the A allele reduces lower-body fat storage, leading to a higher waist-to-hip ratio. However, it is also linked to a natural tendency toward higher physical activity.
What this genotype means: Slightly reduced gluteofemoral fat storage; Slightly higher waist-to-hip ratio; Slightly increased drive for physical activity.
Sample genotype (not yours): C/C
Typical Body Fat Distribution
Typical levels of HOTAIR gene expression support normal lower-body fat storage. This helps maintain a balanced waist-to-hip ratio and typical metabolic health.
What this genotype means: Normal gluteofemoral fat storage capacity; Typical waist-to-hip ratio; Standard baseline physical activity levels.
Gene function and biological role
Gene Function: The HOX transcript antisense RNA gene, known as HOTAIR, produces a long non-coding RNA that plays a crucial role in epigenetic regulation [1]. It acts as a molecular scaffold, guiding chromatin-modifying complexes to specific genomic regions to repress or activate target genes [1]. In adipose tissue, HOTAIR is uniquely expressed in gluteofemoral fat depots, where it is essential for healthy subcutaneous fat cell development [1]. By regulating regional fat storage, this gene directly influences body shape and metabolic health [1].
Variant Impact: Located near the HOXC13 and HOTAIR gene region on chromosome 12, rs1443512 is an intergenic genetic change [2]. This specific variation acts as a natural regulator of HOTAIR expression, with the minor A allele functioning similarly to a natural knock-down of the gene [3]. Because HOTAIR is essential for lower-body fat cell development, this genetic reduction alters how and where the body stores fat [3]. Consequently, this variant is strongly associated with changes in waist-hip ratio and regional adiposity [2].
Key Insight: The A allele of this variant acts as a natural knock-down of the HOTAIR gene, which is exclusively expressed in lower-body fat depots and is essential for hip and thigh fat cell development.
Location: HOXC13. Chromosome 12 · 12q13.13 · 53.9 Mb
Estimated prevalence by population
Global 13.5%; European 5.3%; African 33.1%; East Asian 3.2%; South Asian 9.5%; Americas 6.3%; Ashkenazi 9.8%; Finnish 7.8%; Middle Eastern 15.0%; Amish 4.4%.
Estimated AA genotype frequency.
Global 40.0%; European 35.5%; African 48.9%; East Asian 29.4%; South Asian 42.7%; Americas 37.6%; Ashkenazi 43.1%; Finnish 40.3%; Middle Eastern 47.4%; Amish 33.1%.
Estimated AC genotype frequency.
Global 46.6%; European 59.2%; African 18.0%; East Asian 67.4%; South Asian 47.8%; Americas 56.0%; Ashkenazi 47.1%; Finnish 51.9%; Middle Eastern 37.6%; Amish 62.5%.
Estimated CC genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 10/10. Source: PMID 20935629. Increased Ratio.
Neurology & Mental Health
Behavioral & Personality Traits
Physical Activity. Evidence: 6/10. Source: PMID 28448500. Higher Activity.
Addiction & Reward
Smoking Behavior. Evidence: 6/10. Source: PMID 28443625. Higher Tendency.
Showing effects for A/C genotype
Waist-to-Hip Ratio. Evidence: 10/10. Source: PMID 20935629. Slightly Increased.
Physical Activity. Evidence: 6/10. Source: PMID 28448500. Slightly Higher.
Smoking Behavior. Evidence: 6/10. Source: PMID 28443625. Slightly Higher.
Showing effects for C/C genotype
Waist-to-Hip Ratio. Evidence: 10/10. Source: PMID 20935629. Typical Ratio.
Physical Activity. Evidence: 6/10. Source: PMID 28448500. Typical Activity.
Smoking Behavior. Evidence: 6/10. Source: PMID 28443625. Typical Tendency.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the minor A allele act as a natural knock-down of the HOTAIR gene, significantly limiting subcutaneous fat cell development in the gluteofemoral region [1]. With less capacity to store fat safely in the hips and thighs, the body distributes fat more centrally, resulting in an elevated waist-to-hip ratio [2]. Although a higher waist-to-hip ratio is a known metabolic risk factor, this genotype is also strongly linked to increased physical activity [3]. This genotype is also associated with a higher tendency for smoking behavior [4].
Reduced gluteofemoral fat storage capacity; Higher waist-to-hip ratio; Increased natural drive for physical activity.
Sample genotype: AC (Heterozygous)
A single copy of the minor A allele decreases the expression of the HOTAIR gene, which is essential for developing protective lower-body fat depots [1]. This reduction in hip and thigh fat storage capacity leads to a higher waist-to-hip ratio, as fat is distributed more toward the abdomen [2]. While an abdominal-leaning fat distribution is generally associated with metabolic challenges, this genotype also exhibits a higher predisposition for physical activity [3]. This active lifestyle can help offset the metabolic risks associated with a higher waist-to-hip ratio [3]. There is also a slight association with increased smoking behavior that warrants mindful lifestyle choices [4].
Slightly reduced gluteofemoral fat storage; Slightly higher waist-to-hip ratio; Slightly increased drive for physical activity.
Sample genotype: CC (Homozygous)
Typical genetic expression of the HOTAIR gene allows for normal subcutaneous fat development in the hips and thighs [1]. This pattern of lower-body fat storage is biologically protective, acting as a safe sink for excess calories and reducing the risk of ectopic fat accumulation in vital organs [2]. Having two copies of the common C allele is associated with a typical waist-to-hip ratio [1]. Research indicates that this balanced fat distribution supports favorable insulin sensitivity and cardiovascular health [2]. Additionally, this genotype is linked to typical baseline levels of physical activity and standard smoking behaviors.
Normal gluteofemoral fat storage capacity; Typical waist-to-hip ratio; Standard baseline physical activity levels.
Variants with shared genetic architecture
rs2371767 · ADAMTS9-AS2 Gene · Chr 3 · Body Fat Distribution
rs863750 · ZNF664-RFLNA Gene · Chr 12 · Triglyceride Levels
rs10132280 · NOVA1 Gene · Chr 14 · Body Weight and Shape
New genetic loci link adipose and insulin biology to body fat distribution.
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Content updated August 2026.
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