Triglycerides & Fatty Acids

Protective missense variant that reduces LPL inhibition, lowering fasting triglycerides in T-allele carriers

Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, lowering fasting triglycerides and decreasing coronary artery disease risk in carriers of the K40 allele

Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly in women; the C allele is the risk allele for reduced HDL-cholesterol levels

Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a regulatory region affecting LPL expression; the rare G allele is associated with meaningfully lower triglycerides and higher HDL cholesterol.

LPL 3'UTR variant disrupting a microRNA-410 binding site; the C allele abolishes miR-410-mediated suppression of LPL mRNA, raising lipoprotein lipase activity and lowering plasma triglycerides

Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAMP-mediated lipolysis, higher HDL cholesterol, lower triglycerides, and reduced cardiovascular disease risk

Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels while elevating triglycerides

Intronic FADS2 variant with stronger independent associations than rs174575 for PUFA substrate accumulation; G allele carriers have elevated linoleic and alpha-linolenic acid with reduced arachidonic acid, EPA, and DHA, and show preferential benefit from high-dose omega-3 supplementation after cardiac events

Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides, LDL, and total cholesterol, and increases NAFLD risk

Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associated with circulating omega-3 PUFA and DHA levels; the C allele is linked to lower serum omega-3 and DHA concentrations, likely through linkage disequilibrium with the nearby FADS1/FADS2 desaturase cluster

Regulatory variant in the FADS1 locus that controls delta-5 desaturase expression, altering conversion of omega-6 and omega-3 precursors to long-chain PUFAs; the G allele drives higher arachidonic acid and cardiovascular risk while the T allele impairs EPA synthesis from plant-based omega-3

Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expression and activity, impairing conversion of dietary omega-6 and omega-3 precursors to arachidonic acid and EPA respectively; independently associated with plasma triglyceride levels and omega-3/omega-6 fatty acid ratios.

3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, reducing FADS1 desaturase expression by up to 30–60%; the T allele impairs conversion of linoleic acid to arachidonic acid and ALA to EPA, and is independently associated with elevated serum triglycerides.

Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA from plant sources

Intronic variant in the FADS1 gene cluster that reduces delta-5 desaturase activity, impairing conversion of DGLA to arachidonic acid (omega-6) and dietary omega-3 precursors toward EPA, leaving G allele carriers with lower circulating long-chain PUFAs and greater dependence on preformed EPA and DHA

Intronic variant in the FADS1 gene cluster that tags a haplotype block controlling delta-5 desaturase activity; the C allele reduces conversion of omega-6 and omega-3 precursors to long-chain PUFAs (AA, EPA) and also increases miR-1908-5p expression, independently lowering LDL cholesterol

Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-limiting enzyme for long-chain PUFA synthesis; the T allele reduces conversion of linoleic acid to GLA and ALA to SDA, lowering downstream arachidonic acid, EPA, and DHA production.

Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing the first rate-limiting step in converting dietary LA to GLA (omega-6) and ALA to stearidonic acid (omega-3), resulting in lower circulating EPA levels in T allele carriers

Intronic FADS2 variant; A allele carriers have reduced delta-6 desaturase activity, impairing conversion of dietary plant-based omega-3 (ALA) to EPA/DHA and omega-6 (LA) to arachidonic acid

Intergenic variant near the lipoprotein lipase gene on 8p21.3; the rare T allele is linked to lower fasting triglycerides and reduced metabolic syndrome risk.

Intestinal fat absorption - affects how efficiently you absorb dietary fat

Missense variant in endothelial lipase that tags a regulatory haplotype associated with modestly higher HDL cholesterol through reduced LIPG expression

Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 desaturase activity, shifting the conversion of linoleic acid toward lower arachidonic acid production and modifying LDL-C in a diet-dependent manner.

Intronic FABP1 variant associated with type 2 diabetes risk and insulin resistance

Downstream regulatory variant affecting LPL expression and triglyceride clearance — the A allele increases LPL activity and lowers plasma triglycerides

Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is associated with higher HDL cholesterol and lower cardiovascular event risk

Intronic LPL variant associated with altered triglyceride clearance and HDL levels; the minor A allele is linked to lower HDL cholesterol and elevated coronary artery disease risk

Intronic regulatory variant in FADS2; T allele carriers have lower D5D and D6D activity and reduced fasting insulin.

APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising plasma triglycerides and NAFLD risk

Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipoprotein C-III, raising triglycerides and VLDL through impaired post-meal suppression of apoCIII secretion

Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) that reduces transcriptional activity; the T allele lowers hepatic FABP1 expression, altering liver fatty acid uptake and increasing risk of dyslipidemia and impaired hepatic lipid handling

Intronic CD36 variant that reduces CD36 expression, with effects on circulating sCD36.

3' UTR variant in the ELOVL2 elongase gene that reduces DHA synthesis from its precursor DPA, lowering baseline plasma DHA in C-allele carriers

Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifies how dietary polyunsaturated fat intake affects LDL and total cholesterol; AA homozygotes consuming high-PUFA diets show markedly elevated LDL-cholesterol.

Intronic LIPC variant associated with susceptibility to low HDL-C and coronary heart disease through hepatic lipase activity modulation; A allele (minor, ~29% globally) confers elevated CHD risk

Intronic CDH13 variant altering T-cadherin expression; T allele carriers have lower circulating adiponectin but improved adiponectin signalling efficiency and better cardiometabolic outcomes

Intronic variant near LIPG whose T allele increases circulating endothelial lipase levels and is associated with lower HDL cholesterol at genome-wide significance across multiple large cohorts

Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consuming more than 22g saturated fat daily have 84% higher obesity odds than AA/AG carriers

ABCG1 promoter variant that reduces transporter expression, impairing macrophage cholesterol efflux and increasing macrophage apoptosis — yet paradoxically associated with higher HDL-C, lower LDL-C, and reduced coronary artery disease risk in population studies

Synonymous coding variant in CD36 fatty acid translocase; the minor A allele is associated with lower atheromatous plaque thickness and altered left ventricular diastolic parameters.

Intronic variant in the ABCG1 cholesterol efflux transporter gene associated with differential HDL-cholesterol response during calorie-restricted dieting; G allele carriers preserve HDL-c more effectively, while AA homozygotes show greater HDL-c reduction when losing weight.

Intronic enhancer variant in ELOVL2 that controls transcription factor binding to the ELOVL2 promoter, with the A allele reducing elongase-2 expression and impairing EPA-to-DHA conversion; the lead InCHIANTI GWAS signal for plasma EPA levels and a modifier of sex-specific DHA response to omega-3 supplementation

Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression via ELK1 transcription factor binding; the minor T allele elevates D6D activity, accelerating conversion of dietary omega-6 and omega-3 precursors to long-chain PUFAs.

Intronic LIPG variant that tags a haplotype associated with higher LDL cholesterol and apolipoprotein B, with effects on lipid profiles that are substantially modified by physical activity

Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase activity and the efficiency of converting linoleic acid and alpha-linolenic acid into long-chain omega-6 and omega-3 fatty acids