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rs2144300 (GALNT2)

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

Blood Lipid Levels: 10/10 evidence, 26 publications.

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Sample genotype (not yours): C/C

Less Favorable Lipid Profile

This genotype is associated with lower levels of protective HDL cholesterol and higher levels of triglycerides.

What this genotype means: Lower HDL cholesterol; Elevated triglycerides; Higher VLDL cholesterol.

Sample genotype (not yours): C/T

Typical Lipid Profile

This genotype is associated with average, balanced levels of HDL cholesterol and triglycerides.

What this genotype means: Typical HDL cholesterol levels; Typical triglyceride levels; Balanced VLDL levels.

Sample genotype (not yours): T/T

Favorable Lipid Profile

This genotype is associated with higher levels of protective HDL cholesterol and lower triglycerides.

What this genotype means: Higher HDL cholesterol; Lower triglycerides; Lower VLDL cholesterol.

About GALNT2

Gene function and biological role

Gene Function: The GALNT2 gene encodes polypeptide N-acetylgalactosaminyltransferase 2, an enzyme that initiates O-linked glycosylation of proteins [1]. This biochemical process attaches sugar molecules to specific proteins, directly influencing how they fold, travel, and interact within the body [1]. In the liver, this enzyme targets key proteins involved in lipid metabolism, regulating how high-density lipoprotein (HDL) and triglycerides are cleared from the bloodstream [2]. Consequently, variations in this gene alter enzyme activity, directly shifting circulating lipid concentrations and affecting overall cardiovascular health [2].

Variant Impact: The rs2144300 variant is an intronic change located within the GALNT2 gene on chromosome 1. Because it resides in an intron, it does not directly alter the amino acid sequence of the enzyme but instead influences gene expression levels [2]. This regulatory change alters the rate of O-glycosylation of lipid-binding proteins in the liver [3]. Studies show that this single nucleotide change is one of the most robustly replicated genetic signals influencing high-density lipoprotein (HDL) and triglyceride levels across diverse global populations [2] [3].

Key Insight: This variant acts as a metabolic tuning fork, simultaneously raising healthy HDL cholesterol while lowering undesirable triglycerides and VLDL particles.

Location: GALNT2. Chromosome 1 · 1q42.13 · 230.2 Mb

Genotype Frequencies

Estimated prevalence by population

Global 35.0%; European 15.7%; African 74.4%; East Asian 63.9%; South Asian 33.5%; Americas 20.6%; Ashkenazi 15.1%; Finnish 21.3%; Middle Eastern 24.0%; Amish 14.0%.

Estimated CC genotype frequency.

Global 41.0%; European 47.8%; African 23.7%; East Asian 32.1%; South Asian 48.8%; Americas 49.6%; Ashkenazi 47.5%; Finnish 49.7%; Middle Eastern 50.0%; Amish 46.9%.

Estimated CT genotype frequency.

Global 24.0%; European 36.5%; African 1.9%; East Asian 4.0%; South Asian 17.7%; Americas 29.8%; Ashkenazi 37.3%; Finnish 29.0%; Middle Eastern 26.0%; Amish 39.1%.

Estimated TT genotype frequency.

Associated Traits

Showing effects for C/C genotype

Cardiovascular & Metabolic

Lipids & Cholesterol

HDL Cholesterol. Evidence: 8/10. Source: PMID 18193043. Lower HDL.

Triglycerides. Evidence: 10/10. Source: PMID 18193043. Higher Triglycerides.

Total Cholesterol. Evidence: 10/10. Source: PMID 38448586. Higher Cholesterol.

VLDL Cholesterol. Evidence: 6/10. Source: PMID 38448586. Higher VLDL.

Blood Cell & Iron Traits

Platelet Count. Evidence: 8/10. Source: PMID 38116116. Lower Platelets.

Nutrition & Metabolism

Macronutrient Metabolism

Omega-3 DHA Ratio. Evidence: 5/10. Source: PMID 36764567. Lower DHA Ratio.

Showing effects for C/T genotype

HDL Cholesterol. Evidence: 8/10. Source: PMID 18193043. Typical HDL.

Triglycerides. Evidence: 10/10. Source: PMID 18193043. Typical Levels.

Total Cholesterol. Evidence: 10/10. Source: PMID 38448586. Typical Levels.

VLDL Cholesterol. Evidence: 6/10. Source: PMID 38448586. Typical Levels.

Platelet Count. Evidence: 8/10. Source: PMID 38116116. Typical Platelets.

Omega-3 DHA Ratio. Evidence: 5/10. Source: PMID 36764567. Typical DHA Ratio.

Showing effects for T/T genotype

HDL Cholesterol. Evidence: 8/10. Source: PMID 18193043. Higher HDL.

Triglycerides. Evidence: 10/10. Source: PMID 18193043. Lower Triglycerides.

Total Cholesterol. Evidence: 10/10. Source: PMID 38448586. Lower Cholesterol.

VLDL Cholesterol. Evidence: 6/10. Source: PMID 38448586. Lower VLDL.

Platelet Count. Evidence: 8/10. Source: PMID 38116116. Higher Platelets.

Omega-3 DHA Ratio. Evidence: 5/10. Source: PMID 36764567. Higher DHA Ratio.

What CC Genotype Means

What this genotype means for the people who carry it

Sample genotype: CC (Homozygous)

Carrying two copies of the C allele is linked to a less optimal balance of circulating blood lipids. Large-scale genetic studies show that this genotype correlates with lower high-density lipoprotein (HDL) cholesterol, which is often referred to as the good cholesterol [1]. Simultaneously, it is associated with elevated levels of triglycerides and very-low-density lipoprotein (VLDL) particles [2]. This combination of lower HDL and higher triglycerides can contribute to a more atherogenic blood profile, potentially increasing long-term cardiovascular risks [1]. However, these genetic tendencies are highly responsive to dietary choices, physical activity, and overall lifestyle factors [3].

Lower HDL cholesterol; Elevated triglycerides; Higher VLDL cholesterol.

What CT Genotype Means

Sample genotype: CT (Heterozygous)

Carrying one C allele and one T allele typically results in intermediate, balanced blood lipid levels. This heterozygous state means the body produces a balanced mix of GALNT2 enzyme variants, leading to typical rates of O-glycosylation in the liver [1]. Population studies indicate that individuals with this genotype generally display average levels of both HDL cholesterol and triglycerides [2]. Because this genotype represents a middle ground, it does not significantly raise or lower cardiovascular risk on its own [1]. Maintaining a balanced diet and regular exercise routine remains the most effective way to support healthy cholesterol levels [3].

Typical HDL cholesterol levels; Typical triglyceride levels; Balanced VLDL levels.

What TT Genotype Means

Sample genotype: TT (Homozygous)

Carrying two copies of the T allele is highly beneficial for cardiovascular health markers. Multiple genome-wide association studies have robustly linked this genotype to significantly higher levels of protective HDL cholesterol [1]. At the same time, individuals with this genotype tend to have lower circulating triglycerides and fewer VLDL particles [2]. This dual effect creates a highly favorable lipid profile that supports arterial health and helps protect against cardiovascular issues [1]. Additionally, this genotype is associated with a higher ratio of beneficial omega-3 fatty acids like DHA [3].

Higher HDL cholesterol; Lower triglycerides; Lower VLDL cholesterol.

Related Variants

Variants with shared genetic architecture

rs4846914 · GALNT2 Gene · Chr 1 · Triglyceride Levels

rs11122450 · GALNT2 Gene · Chr 1 · Lipid Metabolism

rs10127775 · GALNT2 Gene · Chr 1 · Blood Lipid Levels

Sources

Genome-wide characterization of circulating metabolic biomarkers.

Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.

Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.

Back to Variant Explorer

Content updated August 2026.

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