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rs10938397 (GNPDA2)

What you carry at this position in your DNA and what research says about it.

Obesity Risk: 8/10 evidence, 43 publications.

You're viewing every possible genotype for this variant.

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Sample genotype (not yours): A/A

Typical Body Weight and Lower Metabolic Risk

Carrying two copies of the A allele is associated with a lower body mass index and reduced risk of obesity. This genotype helps maintain healthy metabolic function and typical body fat levels.

What this genotype means: Lower risk of obesity; Lower risk of type 2 diabetes; Typical body fat percentage.

Sample genotype (not yours): A/G

Slightly Increased Risk of Weight Gain and Diabetes

Carrying one copy of the G allele is linked to a slightly higher body mass index and increased body fat. This genotype moderately elevates the risk of obesity and related metabolic conditions.

What this genotype means: Slightly higher risk of obesity; Slightly higher risk of type 2 diabetes; Slightly larger waist circumference.

Sample genotype (not yours): G/G

Higher Risk of Obesity and Metabolic Syndrome

Carrying two copies of the G allele is associated with the highest risk of obesity and elevated body fat. This genotype significantly increases the likelihood of developing type 2 diabetes and metabolic syndrome.

What this genotype means: Higher risk of obesity; Higher risk of type 2 diabetes; Larger waist and hip circumference.

About GNPDA2

Gene function and biological role

Gene Function: GNPDA2 encodes glucosamine-6-phosphate deaminase 2, an enzyme that plays a critical role in the hexosamine signaling pathway [1]. This pathway is essential for cellular metabolism, glucose sensing, and energy homeostasis [1]. GNPDA2 is highly expressed in the human brain, particularly in hypothalamic regions that regulate appetite and satiety [1]. Alterations in this gene's expression or function can disrupt metabolic signaling, leading to changes in body weight and fat distribution [2].

Variant Impact: The rs10938397 variant is an intergenic genetic marker located near the GNPDA2 gene on chromosome 4. Although it does not directly alter the amino acid sequence of the protein, it acts as a regulatory expression marker [1]. The G allele of this variant is consistently associated with increased expression of GNPDA2 in key metabolic tissues [1]. This increased expression is strongly linked to higher body mass index, elevated body fat percentage, and increased risk of obesity [2].

Read on the Cheese Preference page

Key Insight: While the G allele increases the genetic risk of weight gain, regular physical activity has been shown to significantly weaken this genetic predisposition.

Location: GNPDA2. Chromosome 4 · 4p12 · 45.2 Mb

Genotype Frequencies

Estimated prevalence by population

Global 40.0%; European 32.4%; African 57.5%; East Asian 51.5%; South Asian 37.0%; Americas 35.5%; Ashkenazi 30.9%; Finnish 24.6%; Middle Eastern 39.0%; Amish 46.4%.

Estimated AA genotype frequency.

Global 45.2%; European 49.0%; African 36.7%; East Asian 40.5%; South Asian 47.6%; Americas 48.2%; Ashkenazi 49.4%; Finnish 50.0%; Middle Eastern 46.9%; Amish 43.5%.

Estimated AG genotype frequency.

Global 14.8%; European 18.6%; African 5.9%; East Asian 8.0%; South Asian 15.3%; Americas 16.3%; Ashkenazi 19.7%; Finnish 25.4%; Middle Eastern 14.1%; Amish 10.2%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for A/A genotype

Cardiovascular & Metabolic

Obesity & Body Composition

Obesity. Evidence: 8/10. Source: PMID 19079261. Lower Risk.

Body Fat Percentage. Evidence: 10/10. Source: PMID 33910581. Typical.

Waist Circumference. Evidence: 8/10. Source: PMID 25673412. Typical.

Diabetes & Glycemic Traits

Type 2 Diabetes. Evidence: 6/10. Source: PMID 38374256. Lower Risk.

Metabolic Syndrome & Insulin Resistance

Metabolic Syndrome. Evidence: 8/10. Source: PMID 39349817. Lower Risk.

Endocrine & Reproductive

Menstrual, Menopause & Ovarian Traits

Age at Menarche. Evidence: 8/10. Source: PMID 25231870. Slightly Later.

Showing effects for A/G genotype

Obesity. Evidence: 8/10. Source: PMID 19079261. Slightly Higher Risk.

Body Fat Percentage. Evidence: 10/10. Source: PMID 33910581. Slightly Higher.

Waist Circumference. Evidence: 8/10. Source: PMID 25673412. Slightly Larger.

Type 2 Diabetes. Evidence: 6/10. Source: PMID 38374256. Slightly Higher Risk.

Metabolic Syndrome. Evidence: 8/10. Source: PMID 39349817. Slightly Higher Risk.

Age at Menarche. Evidence: 8/10. Source: PMID 25231870. Typical.

Showing effects for G/G genotype

Obesity. Evidence: 8/10. Source: PMID 19079261. Higher Risk.

Body Fat Percentage. Evidence: 10/10. Source: PMID 33910581. Higher.

Waist Circumference. Evidence: 8/10. Source: PMID 25673412. Larger.

Type 2 Diabetes. Evidence: 6/10. Source: PMID 38374256. Higher Risk.

Metabolic Syndrome. Evidence: 8/10. Source: PMID 39349817. Higher Risk.

Age at Menarche. Evidence: 8/10. Source: PMID 25231870. Slightly Earlier.

What AA Genotype Means

What this genotype means for the people who carry it

Sample genotype: AA (Homozygous)

Having two copies of the A allele is the most favorable genetic profile at this locus for metabolic health. Large-scale genetic studies have shown that individuals with this genotype tend to have a lower body mass index and a reduced risk of developing obesity [1]. This protective effect extends to other metabolic markers, including a lower risk of type 2 diabetes and metabolic syndrome [2]. The A allele is associated with typical levels of body fat and waist circumference, indicating a healthier fat distribution pattern [3]. Additionally, this genotype is linked to a slightly later age at menarche in women, which is often associated with lower lifetime metabolic risks [4]. Overall, this genetic profile supports a healthy metabolism and typical body weight regulation.

Lower risk of obesity; Lower risk of type 2 diabetes; Typical body fat percentage.

What AG Genotype Means

Sample genotype: AG (Heterozygous)

Carrying one copy of the G allele is associated with a moderate increase in body mass index and overall body fat [1]. This genetic variation is linked to a higher likelihood of developing obesity and carrying excess weight around the waist [2]. Individuals with this genotype also face a slightly elevated risk of metabolic syndrome and type 2 diabetes compared to those with the A/A genotype [3]. The G allele is thought to influence appetite regulation and energy expenditure through its effects on the GNPDA2 gene in the brain [1]. While the genetic influence of a single G allele is modest, it can interact with diet and lifestyle factors to affect long-term weight management [4]. Maintaining regular physical activity and a balanced diet can help mitigate these genetic risks.

Slightly higher risk of obesity; Slightly higher risk of type 2 diabetes; Slightly larger waist circumference.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Having two copies of the G allele represents the highest genetic risk at this locus for weight gain and metabolic complications. Multiple genome-wide association studies have firmly linked this genotype to an increased body mass index and a higher risk of obesity [1]. This genetic predisposition also significantly elevates the risk of developing type 2 diabetes and metabolic syndrome [2]. Individuals with this genotype tend to have larger waist and hip circumferences, reflecting a higher accumulation of body fat [3]. The G allele is associated with altered expression of the GNPDA2 gene, which is involved in appetite control and energy balance [1]. Despite this genetic tendency, research shows that regular physical activity can substantially reduce the impact of this variant on body weight [4]. Proactive lifestyle habits are particularly beneficial for individuals carrying this genotype.

Higher risk of obesity; Higher risk of type 2 diabetes; Larger waist and hip circumference.

Related Variants

Variants with shared genetic architecture

rs13130484 · GNPDA2 Gene · Chr 4 · Obesity Risk

rs4776970 · MAP2K5 Gene · Chr 15 · Obesity Risk

rs8050136 · FTO Gene · Chr 16 · Weight and Diabetes Risk

Sources

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

Genetic studies of body mass index yield new insights for obesity biology.

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.

Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

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.

Back to Variant Explorer

Content updated August 2026.

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