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rs2072114 (FADS2)

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

Omega-3 Metabolism: 8/10 evidence, 11 publications.

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Sample genotype (not yours): A/A

Efficient Omega-3 Synthesis and Favorable Lipids

Highly active desaturase enzymes support optimal conversion of plant-based fats into active omega-3s. This genotype is linked to higher HDL cholesterol and lower triglycerides.

What this genotype means: Highly efficient omega-3 synthesis; Favorable triglyceride levels; Higher HDL cholesterol.

Sample genotype (not yours): A/G

Typical Omega-3 Synthesis and Lipid Profile

Moderate desaturase enzyme activity provides a balanced rate of fatty acid conversion. Lipid levels and omega-3 synthesis are generally within the typical range.

What this genotype means: Moderate omega-3 synthesis; Typical triglyceride levels; Average HDL cholesterol.

Sample genotype (not yours): G/G

Reduced Omega-3 Synthesis and Higher Triglycerides

Lower desaturase enzyme activity limits the conversion of plant-based fats into active omega-3s. This genotype is associated with higher triglycerides and lower HDL.

What this genotype means: Less efficient omega-3 synthesis; Elevated triglyceride levels; Lower HDL cholesterol.

About FADS2

Gene function and biological role

Gene Function: The FADS2 gene encodes delta-6 desaturase, a key rate-limiting enzyme responsible for converting short-chain plant-based fatty acids into long-chain polyunsaturated fatty acids [1]. This enzyme plays a critical role in synthesizing essential lipids like arachidonic acid, eicosapentaenoic acid, and docosahexaenoic acid [2]. These fatty acids are vital components of cell membranes, particularly in the brain, and serve as precursors for signaling molecules that regulate inflammation and cardiovascular health [2]. Variations in this gene can significantly alter how efficiently the body processes dietary fats [1].

Variant Impact: The rs2072114 variant is an intron variant located within the FADS2 gene that influences its expression and enzyme activity [1]. The major A allele is associated with highly efficient desaturase activity, leading to higher circulating levels of long-chain omega-3 and omega-6 fatty acids [2]. Conversely, the minor G allele is linked to reduced enzyme efficiency, resulting in lower levels of these essential fats [2]. This genetic difference affects blood lipid profiles, including triglycerides and cholesterol levels, making dietary intake of preformed omega-3s particularly important for certain genotypes [1].

Key Insight: Carrying the G allele reduces your body's ability to convert plant-based fats into active omega-3s, making direct dietary sources like fish oil much more important.

Location: FADS2. Chromosome 11 · 11q12.2 · 61.8 Mb

Genotype Frequencies

Estimated prevalence by population

Global 71.1%; European 75.6%; African 75.6%; East Asian 34.7%; South Asian 85.3%; Americas 58.0%; Ashkenazi 77.3%; Finnish 51.0%; Middle Eastern 74.5%; Amish 93.3%.

Estimated AA genotype frequency.

Global 25.9%; European 22.7%; African 22.7%; East Asian 48.4%; South Asian 14.1%; Americas 36.3%; Ashkenazi 21.3%; Finnish 40.8%; Middle Eastern 23.6%; Amish 6.6%.

Estimated AG genotype frequency.

Global 3.0%; European 1.7%; African 1.7%; East Asian 16.9%; South Asian 0.6%; Americas 5.7%; Ashkenazi 1.5%; Finnish 8.2%; Middle Eastern 1.9%; Amish 0.1%.

Estimated GG genotype frequency.

Associated Traits

Showing effects for A/A genotype

Nutrition & Metabolism

Macronutrient Metabolism

Omega-3 Fatty Acids. Evidence: 8/10. Source: PMID 35692035. Higher Levels.

Cardiovascular & Metabolic

Lipids & Cholesterol

Triglycerides. Evidence: 6/10. Source: PMID 34503513. Lower Levels.

HDL Cholesterol. Evidence: 6/10. Source: PMID 35213538. Higher Levels.

LDL Cholesterol. Evidence: 6/10. Source: PMID 37106081. Higher Levels.

Showing effects for A/G genotype

Omega-3 Fatty Acids. Evidence: 8/10. Source: PMID 35692035. Typical Levels.

Triglycerides. Evidence: 6/10. Source: PMID 34503513. Typical Levels.

HDL Cholesterol. Evidence: 6/10. Source: PMID 35213538. Typical Levels.

LDL Cholesterol. Evidence: 6/10. Source: PMID 37106081. Typical Levels.

Showing effects for G/G genotype

Omega-3 Fatty Acids. Evidence: 8/10. Source: PMID 35692035. Lower Levels.

Triglycerides. Evidence: 6/10. Source: PMID 34503513. Higher Levels.

HDL Cholesterol. Evidence: 6/10. Source: PMID 35213538. Lower Levels.

LDL Cholesterol. Evidence: 6/10. Source: PMID 37106081. Lower Levels.

What AA Genotype Means

What this genotype means for the people who carry it

Sample genotype: AA (Homozygous)

Inheriting two copies of the A allele ensures robust activity of the delta-6 desaturase enzyme, which is crucial for synthesizing long-chain polyunsaturated fatty acids [1]. This efficient conversion pathway helps maintain optimal levels of circulating eicosapentaenoic acid and docosahexaenoic acid [1]. Studies show that this metabolic efficiency correlates with a more favorable lipid profile, characterized by lower fasting triglycerides and higher HDL cholesterol [2]. While dietary omega-3s remain beneficial, the body is naturally well-equipped to synthesize these essential fats from plant precursors like flaxseed or chia seeds [1]. Maintaining a balanced diet rich in diverse healthy fats supports overall cardiovascular and cognitive health [2].

Highly efficient omega-3 synthesis; Favorable triglyceride levels; Higher HDL cholesterol.

What AG Genotype Means

Sample genotype: AG (Heterozygous)

Carrying one copy of each allele results in intermediate activity of the delta-6 desaturase enzyme [1]. The body retains a moderate capacity to convert plant-derived alpha-linolenic acid into active long-chain omega-3 fatty acids [1]. Blood lipid markers, including triglycerides and HDL cholesterol, typically fall within average ranges [2]. While there is no major genetic disadvantage, relying solely on plant-based precursors might not yield optimal omega-3 levels compared to direct consumption [1]. Incorporating preformed omega-3 sources like fatty fish or high-quality algae supplements can help optimize lipid profiles [2]. Regular dietary tracking can ensure that essential fatty acid requirements are consistently met.

Moderate omega-3 synthesis; Typical triglyceride levels; Average HDL cholesterol.

What GG Genotype Means

Sample genotype: GG (Homozygous)

Having two copies of the G allele significantly reduces the efficiency of the delta-6 desaturase enzyme [1]. This limitation makes it difficult for the body to synthesize essential long-chain omega-3 fatty acids from plant-based precursors [1]. Consequently, individuals with this genotype often exhibit lower circulating levels of EPA and DHA, alongside higher fasting triglycerides [2]. Research suggests that relying on plant sources like flaxseed is less effective for this group, making direct dietary intake of marine-based omega-3s highly beneficial [1]. Consuming fatty fish or taking high-quality fish oil or algal supplements can help bypass this metabolic bottleneck [2]. Managing dietary fat intake is a practical way to support cardiovascular wellness and maintain healthy lipid levels.

Less efficient omega-3 synthesis; Elevated triglyceride levels; Lower HDL cholesterol.

Related Variants

Variants with shared genetic architecture

rs174570 · FADS2 Gene · Chr 11 · Fatty Acid Metabolism

rs174574 · FADS2 Gene · Chr 11 · Fatty Acid Metabolism

rs99780 · FADS2 Gene · Chr 11 · Omega-3 Metabolism

Sources

Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.

Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from over 114,000 UK Biobank participants.

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

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Content updated August 2026.

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