ReadYourDNA

rs4841132 (PPP1R3B)

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

Metabolic Trade-Off: 10/10 evidence, 34 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): A/A

Lower Heart Attack Risk but Higher Blood Sugar

Carrying two copies of the rare A allele creates a significant metabolic trade-off. This genotype is associated with lower LDL cholesterol and reduced heart attack risk, alongside higher fasting blood sugar and liver glycogen accumulation.

What this genotype means: Lower LDL cholesterol; Higher fasting blood sugar; Increased liver glycogen storage.

Sample genotype (not yours): A/G

Carrying one copy of the A allele presents a distinct metabolic trade-off. It is linked to lower LDL cholesterol and reduced heart attack risk, but also slightly higher fasting blood sugar and liver glycogen storage.

What this genotype means: Slightly lower LDL cholesterol; Slightly higher fasting blood sugar; Slightly increased liver glycogen.

Sample genotype (not yours): G/G

Typical Cholesterol and Blood Sugar Levels

You carry two copies of the common G allele, which is associated with baseline metabolic health. Your genetic predisposition for cholesterol, blood sugar, and liver glycogen storage is typical.

What this genotype means: Typical LDL cholesterol; Typical fasting blood sugar; Typical liver glycogen storage.

About PPP1R3B

Gene function and biological role

Gene Function: The LOC157273 gene encodes a liver-specific long noncoding RNA located on chromosome 8. It is situated upstream of the PPP1R3B gene, which plays a critical role in regulating glycogen synthesis in the liver [1]. LOC157273 acts as a key regulator of PPP1R3B expression, helping coordinate how the body stores glucose as glycogen [1]. Genetic variations in this region can alter the balance between glycogen storage and circulating lipid levels [2]. This locus is heavily studied for its pleiotropic effects on cardiovascular and metabolic health [3]. Understanding this gene helps clarify how liver glycogen metabolism influences systemic cholesterol levels [4].

Variant Impact: The rs4841132 variant is a non-coding genetic change located within the LOC157273 gene. This variant acts as an expression quantitative trait locus (eQTL) that influences the activity of both LOC157273 and the nearby PPP1R3B gene [1]. The minor A allele increases the expression of PPP1R3B, which accelerates the conversion of glucose into glycogen in liver cells [1]. This shift leads to a unique metabolic signature characterized by altered blood lipids and liver glycogen accumulation [4]. Because it is located in a non-coding region, the variant alters gene regulation rather than changing the structure of any protein [5]. It represents one of the most prominent examples of a non-coding variant with widespread metabolic effects [3].

Key Insight: This variant dissociates triglyceride levels from heart attack risk, meaning carriers of the A allele have higher triglycerides but a lower risk of heart attacks due to significantly reduced LDL cholesterol.

Location: PPP1R3B. Chromosome 8 · 8p23.1 · 9.3 Mb

Genotype Frequencies

Estimated prevalence by population

Global 1.2%; European 0.8%; African 1.4%; East Asian < 0.1%; South Asian 1.2%; Americas 2.7%; Ashkenazi 0.3%; Finnish 2.6%; Middle Eastern 0.6%; Amish < 0.1%.

Estimated AA genotype frequency.

Global 18.7%; European 15.9%; African 20.9%; East Asian 2.4%; South Asian 19.3%; Americas 27.4%; Ashkenazi 10.7%; Finnish 27.2%; Middle Eastern 13.8%; Amish 0.7%.

Estimated AG genotype frequency.

Global 80.1%; European 83.3%; African 77.7%; East Asian 97.6%; South Asian 79.5%; Americas 69.9%; Ashkenazi 89.0%; Finnish 70.2%; Middle Eastern 85.6%; Amish 99.3%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for A/A genotype

Cardiovascular & Metabolic

Heart Disease

Heart Attack. Evidence: 8/10. Source: PMID 33339817. Lowered Risk.

Lipids & Cholesterol

LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Lowered.

Triglycerides. Evidence: 9/10. Source: PMID 29507422. Elevated.

Diabetes & Glycemic Traits

Fasting Glucose. Evidence: 8/10. Source: PMID 22581228. Elevated.

Organ Systems

Liver Function & Disease

Liver Glycogen Storage. Evidence: 8/10. Source: PMID 39024449. Elevated.

Showing effects for A/G genotype

Heart Attack. Evidence: 8/10. Source: PMID 33339817. Slightly Lowered Risk.

LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Slightly Lowered.

Triglycerides. Evidence: 9/10. Source: PMID 29507422. Slightly Elevated.

Fasting Glucose. Evidence: 8/10. Source: PMID 22581228. Slightly Elevated.

Liver Glycogen Storage. Evidence: 8/10. Source: PMID 39024449. Slightly Elevated.

Showing effects for G/G genotype

Heart Attack. Evidence: 8/10. Source: PMID 33339817. Typical Risk.

LDL Cholesterol. Evidence: 10/10. Source: PMID 34887591. Typical.

Triglycerides. Evidence: 9/10. Source: PMID 29507422. Typical.

Fasting Glucose. Evidence: 8/10. Source: PMID 22581228. Typical.

Liver Glycogen Storage. Evidence: 8/10. Source: PMID 39024449. Typical.

What AA Genotype Means

What this genotype means for the people who carry it

Sample genotype: AA (Homozygous)

Metabolic profiles for this genotype exhibit a pronounced biological trade-off. Carrying two copies of the rare A allele significantly alters the expression of the nearby PPP1R3B gene, leading to increased glycogen synthesis in the liver [1]. This accumulation of liver glycogen is associated with higher levels of the liver enzyme alanine aminotransferase, indicating mild liver strain [2]. Fasting blood sugar and insulin levels are typically elevated, which can increase the risk of metabolic syndrome [1]. Conversely, blood sugar levels after meals tend to drop more efficiently as glucose is rapidly converted into glycogen [3]. The most beneficial aspect of this genotype is a substantial reduction in total and LDL cholesterol levels [4]. This marked decrease in circulating cholesterol translates to a lower risk of ischemic heart disease and heart attacks [5]. Managing metabolic health through diet and exercise is particularly useful for balancing these contrasting cardiovascular and liver effects.

Lower LDL cholesterol; Higher fasting blood sugar; Increased liver glycogen storage.

What AG Genotype Means

Sample genotype: AG (Heterozygous)

Metabolic profiles for this genotype exhibit a unique biological trade-off. Carrying one copy of the A allele alters the expression of the nearby PPP1R3B gene, which promotes glycogen synthesis in the liver [1]. This shift leads to slightly higher liver glycogen storage and a minor increase in the liver enzyme alanine aminotransferase [2]. Fasting blood sugar and insulin levels may be slightly elevated, reflecting a mild increase in metabolic syndrome traits [1]. However, postprandial blood sugar levels after eating are often lower due to rapid glycogen clearance [3]. Most notably, this genetic change is associated with lower total and LDL cholesterol levels [4]. This reduction in circulating cholesterol provides a protective effect against ischemic heart disease and myocardial infarction [5]. Consequently, the genotype presents a complex mix of slightly elevated metabolic markers alongside cardiovascular protection.

Slightly lower LDL cholesterol; Slightly higher fasting blood sugar; Slightly increased liver glycogen.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Baseline metabolic patterns are typical for carriers of this genotype. Having two copies of the common G allele means liver glycogen synthesis and storage function at standard rates [1]. Fasting blood sugar and insulin levels generally remain within the normal baseline range [1]. Standard levels of liver enzymes like alanine aminotransferase suggest no excess glycogen-related liver strain [2]. Circulating cholesterol levels, including LDL and total cholesterol, follow typical population averages [3]. While this means there is no genetically driven elevation in blood sugar, it also means there is no inherited protection against cardiovascular events [4]. Standard lifestyle factors like diet and exercise remain the primary drivers of cardiovascular and metabolic health. Overall, this genotype represents the most common genetic baseline across global populations.

Typical LDL cholesterol; Typical fasting blood sugar; Typical liver glycogen storage.

Related Variants

Variants with shared genetic architecture

rs4240624 · PPP1R3B Gene · Chr 8 · Gallstone and Cholesterol Risk

rs2126259 · PPP1R3B Gene · Chr 8 · Metabolic Health Balance

rs6601299 · PPP1R3B Gene · Chr 8 · Cholesterol and Lipids

Sources

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

The power of genetic diversity in genome-wide association studies of lipids.

Genetic analyses of diverse populations improves discovery for complex traits.

Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

Back to Variant Explorer

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