What you carry at this position in your DNA and what research says about it.
Kidney Cancer Risk: 7/10 evidence, 18 publications.
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Sample genotype (not yours): A/A
Lower Kidney Cancer Risk and Leaner Body Shape
This genotype is associated with a lower risk of developing kidney cancer. It is also linked to a lower waist-to-hip ratio and healthier blood lipid levels.
What this genotype means: Reduced risk of renal cell carcinoma; Lower tendency to store visceral and abdominal fat; Slightly lower baseline triglyceride levels.
Sample genotype (not yours): A/G
Typical Kidney Cancer Risk and Fat Distribution
This genotype represents the most common genetic profile globally, carrying one copy of each allele. It is associated with average baseline risks for both kidney cancer and metabolic traits.
What this genotype means: Average baseline risk for renal cell carcinoma; Typical body fat distribution and waist-to-hip ratio; Standard baseline risk for type 2 diabetes.
Sample genotype (not yours): G/G
Higher Kidney Cancer Risk and Higher Waist-to-Hip Ratio
This genotype is associated with a moderately increased risk of developing kidney cancer. It is also linked to a slightly higher waist-to-hip ratio, elevated triglycerides, and a minor increase in type 2 diabetes risk.
What this genotype means: Moderately increased risk of renal cell carcinoma; Slightly higher tendency to accumulate abdominal and visceral fat; Minor increase in baseline triglyceride levels and type 2 diabetes risk.
Gene function and biological role
Gene Function: The ITPR2 gene encodes an intracellular calcium channel that is highly expressed in kidney tissue [1]. This channel regulates the release of calcium from the endoplasmic reticulum into the cytoplasm, a process vital for cell growth, survival, and metabolic signaling [1]. Altered expression or activity of this receptor has been linked to cellular transformation and tumor development [1]. Additionally, ITPR2 plays a role in nutrient metabolism and the regulation of body fat distribution [2].
Variant Impact: The rs718314 variant is an intronic genetic change located near the ITPR2 gene on chromosome 12 [1]. This specific marker is notable for its pleiotropic effects, meaning it simultaneously influences multiple unrelated physical traits [1]. The G allele of this variant is associated with increased abdominal fat accumulation and higher lipid levels [3]. The same G allele is also linked to an elevated risk of developing renal cell carcinoma, the most common form of kidney cancer, so the fat-distribution and cancer effects at this variant point in the same direction [1].
Key Insight: The G allele raises both abdominal fat accumulation and kidney cancer risk, making this one of the first genetic markers found to influence body fat distribution and cancer risk at the same time.
Location: ITPR2. Chromosome 12 · 12p11.23 · 26.3 Mb
Estimated prevalence by population
Global 53.6%; European 56.1%; African 63.9%; East Asian 9.2%; South Asian 57.3%; Americas 29.7%; Ashkenazi 58.3%; Finnish 49.8%; Middle Eastern 46.7%; Amish 71.2%.
Estimated AA genotype frequency.
Global 37.6%; European 37.6%; African 32.1%; East Asian 42.3%; South Asian 36.8%; Americas 49.6%; Ashkenazi 36.1%; Finnish 41.5%; Middle Eastern 43.3%; Amish 26.3%.
Estimated AG genotype frequency.
Global 8.7%; European 6.3%; African 4.0%; East Asian 48.6%; South Asian 5.9%; Americas 20.7%; Ashkenazi 5.6%; Finnish 8.6%; Middle Eastern 10.0%; Amish 2.4%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Urologic Cancers
Kidney Cancer. Evidence: 7/10. Source: PMID 22010048. Lower Risk.
Cardiovascular & Metabolic
Obesity & Body Composition
Waist-to-Hip Ratio. Evidence: 9/10. Source: PMID 20935629. Slightly Lower.
Visceral Fat. Evidence: 5/10. Source: PMID 35773277. Lower Visceral Fat.
Lipids & Cholesterol
Triglycerides. Evidence: 7/10. Source: PMID 30275531. Slightly Lower.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 6/10. Source: PMID 30297969. Slightly Lower Risk.
Showing effects for A/G genotype
Kidney Cancer. Evidence: 7/10. Source: PMID 22010048. Typical Risk.
Waist-to-Hip Ratio. Evidence: 9/10. Source: PMID 20935629. Typical.
Visceral Fat. Evidence: 5/10. Source: PMID 35773277. Typical.
Triglycerides. Evidence: 7/10. Source: PMID 30275531. Typical.
Type 2 Diabetes. Evidence: 6/10. Source: PMID 30297969. Typical Risk.
Showing effects for G/G genotype
Kidney Cancer. Evidence: 7/10. Source: PMID 22010048. ~1.4x Higher Risk.
Waist-to-Hip Ratio. Evidence: 9/10. Source: PMID 20935629. Slightly Higher.
Visceral Fat. Evidence: 5/10. Source: PMID 35773277. Higher Visceral Fat.
Triglycerides. Evidence: 7/10. Source: PMID 30275531. Slightly Higher.
Type 2 Diabetes. Evidence: 6/10. Source: PMID 30297969. ~1.1x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele is linked to a lower susceptibility to renal cell carcinoma, the most common form of kidney cancer [1]. This genotype lacks the risk-associated G allele, which raises the odds of this malignancy by approximately 19% per copy [1]. The same genetic profile also carries a metabolic advantage, as it is associated with a lower waist-to-hip ratio and decreased abdominal fat accumulation [2]. Individuals with this genotype also tend to have lower circulating triglyceride levels [3] and a slightly reduced risk of developing type 2 diabetes [4]. The biological mechanism is thought to involve altered calcium signaling in kidney cells, which may influence both tumor suppression and systemic lipid metabolism [1]. Both the cancer and the metabolic effects at this variant point in the same favorable direction for this genotype.
Reduced risk of renal cell carcinoma; Lower tendency to store visceral and abdominal fat; Slightly lower baseline triglyceride levels.
Sample genotype: AG (Heterozygous)
Carrying one A allele and one G allele results in a balanced genetic profile with typical baseline risks [1]. This heterozygous state is common, though in European and African populations the A/A genotype is the most frequent. Because it carries a single copy of the G allele, which raises kidney cancer risk and abdominal fat accumulation together, the effects are intermediate rather than absent [1]. Consequently, individuals with this genotype do not exhibit a significantly elevated risk for renal cell carcinoma compared to the general population [1]. Similarly, their waist-to-hip ratio, triglyceride levels, and type 2 diabetes risk remain close to population averages [2]. This baseline status means that standard health guidelines regarding diet, exercise, and routine medical screenings are highly appropriate and effective.
Average baseline risk for renal cell carcinoma; Typical body fat distribution and waist-to-hip ratio; Standard baseline risk for type 2 diabetes.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele is associated with a higher risk of renal cell carcinoma, the primary form of kidney cancer [1]. Large-scale genetic studies indicate that each copy of the G allele increases the odds of developing this malignancy by approximately 19% [1]. The same allele is robustly associated with increased abdominal fat storage and a higher waist-to-hip ratio [2]. This genotype is also linked to slightly elevated blood triglyceride levels [3] and a minor increase in the risk of developing type 2 diabetes [4]. These metabolic shifts are relatively small but consistent across large population studies [2]. Because the cancer and metabolic effects point the same way here, focusing on cardiovascular health, physical activity, and a balanced diet is worthwhile, and any specific concerns are worth discussing with a physician.
Moderately increased risk of renal cell carcinoma; Slightly higher tendency to accumulate abdominal and visceral fat; Minor increase in baseline triglyceride levels and type 2 diabetes risk.
Variants with shared genetic architecture
rs4731702 · KLF14 Gene · Chr 7 · Metabolic Health and Diabetes
rs10096633 · LPL Gene · Chr 8 · Triglycerides and Heart Health
rs17326656 · LHCGR Gene · Chr 2 · Abdominal Fat and Lipids
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Content updated August 2026.
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