What you carry at this position in your DNA and what research says about it.
Stomach Cancer Risk: 8/10 evidence, 31 publications.
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Sample genotype (not yours): C/C
Lower Stomach Cancer Risk
Carrying two copies of the C allele is associated with a significantly lower risk of developing stomach cancer. It also correlates with typical kidney function but slightly higher uric acid levels.
What this genotype means: Lower risk of stomach cancer; Reduced markers of kidney strain; Slightly higher uric acid levels.
Sample genotype (not yours): C/T
Moderately Increased Stomach Cancer Risk
Carrying one copy of the T allele is linked to a moderately increased risk of stomach cancer. It also represents an intermediate profile for kidney strain and uric acid levels.
What this genotype means: Moderately increased risk of stomach cancer; Slightly elevated markers of kidney strain.
Sample genotype (not yours): T/T
Increased Stomach Cancer Risk and Kidney Strain
Carrying two copies of the T allele is associated with an increased risk of stomach cancer and higher markers of kidney strain. However, it correlates with slightly lower uric acid levels.
What this genotype means: Increased risk of stomach cancer; Elevated markers of kidney strain; Slightly lower uric acid levels.
Gene function and biological role
Gene Function: The MUC1 gene encodes mucin 1, a membrane-bound protein that forms a protective mucosal barrier on epithelial cells lining the stomach, lungs, and other organs [1]. This mucosal barrier acts as a primary line of defense against pathogens, physical damage, and chemical irritation [1]. In the stomach, mucin 1 plays a critical role in interacting with Helicobacter pylori, a bacterium closely linked to inflammation and gastric ulcers [2]. Alterations in MUC1 expression or structure can compromise this protective shield, leaving the stomach lining more vulnerable to chronic inflammation and cellular damage [3].
Variant Impact: The rs4072037 variant is a synonymous change located in the second exon of the MUC1 gene [1]. Although it does not alter the amino acid sequence directly, this single-nucleotide change acts as a functional splice site regulator [3]. The T allele introduces an alternative splicing acceptor site that leads to a 27-nucleotide in-frame deletion in the resulting MUC1 transcript [1]. This shorter transcript alters the structure of the protective mucin barrier, reducing its effectiveness in shielding the stomach lining from pathogens and inflammation [3].
Read on the Magnesium Levels page
Key Insight: A single letter change in MUC1 alters how the gene is spliced, cutting out 27 nucleotides and weakening the stomach's protective mucosal shield.
Location: MUC1. Chromosome 1 · 1q22 · 155.2 Mb
Estimated prevalence by population
Global 17.6%; European 21.8%; African 12.1%; East Asian 4.8%; South Asian 21.1%; Americas 13.2%; Ashkenazi 24.0%; Finnish 19.1%; Middle Eastern 23.7%; Amish 33.4%.
Estimated CC genotype frequency.
Global 47.6%; European 49.8%; African 45.4%; East Asian 34.3%; South Asian 49.7%; Americas 46.3%; Ashkenazi 50.0%; Finnish 49.2%; Middle Eastern 50.0%; Amish 48.8%.
Estimated CT genotype frequency.
Global 34.8%; European 28.4%; African 42.5%; East Asian 60.9%; South Asian 29.3%; Americas 40.6%; Ashkenazi 26.0%; Finnish 31.7%; Middle Eastern 26.4%; Amish 17.8%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Gastrointestinal Cancers
Gastric Cancer. Evidence: 8/10. Source: PMID 20729852. Lower Risk.
Organ Systems
Kidney Function & Disease
Kidney Strain. Evidence: 4/10. Source: PMID 26631737. Typical.
Nutrition & Metabolism
Vitamin & Mineral Metabolism
Magnesium Levels. Evidence: 6/10. Source: PMID 20700443. Slightly Lower.
Cardiovascular & Metabolic
Gout & Uric Acid
Uric Acid Levels. Evidence: 8/10. Source: PMID 29403010. Slightly Higher.
Hypertension
Blood Pressure. Evidence: 6/10. Source: PMID 30487518. Slightly Higher.
Showing effects for C/T genotype
Gastric Cancer. Evidence: 8/10. Source: PMID 20729852. Increased Risk.
Kidney Strain. Evidence: 4/10. Source: PMID 26631737. Slightly Increased.
Magnesium Levels. Evidence: 6/10. Source: PMID 20700443. Typical.
Uric Acid Levels. Evidence: 8/10. Source: PMID 29403010. Typical.
Blood Pressure. Evidence: 6/10. Source: PMID 30487518. Typical.
Showing effects for T/T genotype
Gastric Cancer. Evidence: 8/10. Source: PMID 20729852. ~1.35x Higher Risk.
Kidney Strain. Evidence: 4/10. Source: PMID 26631737. Increased Strain.
Magnesium Levels. Evidence: 6/10. Source: PMID 20700443. Slightly Higher.
Uric Acid Levels. Evidence: 8/10. Source: PMID 29403010. Slightly Lower.
Blood Pressure. Evidence: 6/10. Source: PMID 30487518. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Production of the full-length mucin 1 protein is maintained because this genotype prevents alternative splicing [1]. This allows the body to build a robust protective barrier on the stomach lining [2]. Large-scale genetic studies show that this genotype is associated with a significantly reduced risk of stomach cancer, particularly diffuse-type gastric cancer [3]. Additionally, this genotype is linked to lower levels of urine albumin, indicating less kidney strain [4]. However, it is also associated with slightly higher blood pressure and serum uric acid levels [5] [6].
Lower risk of stomach cancer; Reduced markers of kidney strain; Slightly higher uric acid levels.
Sample genotype: CT (Heterozygous)
Production of both full-length and shortened mucin 1 proteins occurs in epithelial tissues with this genotype [1]. The presence of the shortened protein slightly weakens the protective mucosal barrier in the stomach, making it more susceptible to environmental triggers [2]. Clinical studies indicate that this heterozygous genotype carries a moderately increased risk of developing stomach cancer compared to the C/C genotype [3]. It is also associated with a mild increase in urine albumin-to-creatinine ratios, suggesting a slight elevation in kidney strain [4]. Conversely, this genotype is associated with slightly lower uric acid levels and blood pressure compared to C/C [5] [6].
Moderately increased risk of stomach cancer; Slightly elevated markers of kidney strain.
Sample genotype: TT (Homozygous)
Alternative splicing that removes 27 nucleotides from the MUC1 transcript is promoted by this genotype [1]. This structural change produces a shortened mucin 1 protein, which compromises the integrity of the stomach's protective mucosal barrier [2]. Multiple genome-wide association studies have linked this genotype to a significantly higher risk of stomach cancer, with an odds ratio of approximately 1.35 [3]. It is also associated with higher urine albumin-to-creatinine ratios, which can be a marker of early kidney strain [4]. On the positive side, this genotype is associated with slightly higher serum magnesium levels and lower uric acid levels [5] [6].
Increased risk of stomach cancer; Elevated markers of kidney strain; Slightly lower uric acid levels.
Variants with shared genetic architecture
rs10224210 · PRKAG2 Gene · Chr 7 · Kidney Health and Gout
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
rs1171614 · SLC16A9 Gene · Chr 10 · Gout and Uric Acid Risk
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Content updated August 2026.
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