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 tagging reduced hepatic lipase expression; G allele associated with elevated HDL cholesterol and lower risk of age-related macular degeneration

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.

Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface expression and influencing platelet activation, oxidized-LDL uptake, and postprandial lipid handling.

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 — with dietary fat type modifying the net cardiometabolic effect

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

Intronic LIPC variant associated with circulating DHA and omega-3 fatty acid levels via hepatic lipase-mediated LPC-DHA generation

Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides, LDL, and total cholesterol, increases NAFLD risk, and is associated with longer sleep duration through a pleiotropic link between hepatic lipid metabolism and sleep regulation

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 via promoter methylation, 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 regulatory variant in FADS1 that reduces delta-5 desaturase expression, impairing conversion of linoleic acid to arachidonic acid and ALA to EPA — one of the strongest GWAS hits for plasma PUFA levels.

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 variant in FADS2 that reduces delta-6 desaturase activity, impairing the first step of the PUFA desaturation cascade and lowering circulating EPA, DHA, and arachidonic acid while raising linoleic acid and ALA precursors

Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; 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 with an independent triglyceride-lowering association; the rare T allele is linked to lower fasting triglycerides and reduced metabolic syndrome risk.

3'-UTR variant in ELOVL2 associated with altered EPA-to-DHA conversion; A allele carriers tend to have lower baseline DHA and greater DHA response to marine omega-3 supplementation

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 USF1 variant; the T allele disrupts insulin-responsive USF1 regulation and is associated with familial combined hyperlipidemia susceptibility and elevated triglycerides

Intronic FABP1 variant associated with type 2 diabetes risk and insulin resistance; likely tags the functional haplotype containing the T94A missense in the liver fatty acid transport protein

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

Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing the conversion of EPA to DPA and DPA to DHA, and increasing responsiveness to omega-3 supplementation

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

Intronic regulatory variant in FADS2 (Block 2 haplotype) that reduces basal FADS1 and FADS2 expression through a conserved intron 1 regulatory locus, impairing delta-6 desaturase activity and lowering circulating arachidonic acid, EPA, and DHA; captures an independent regulatory signal from the rs174568/rs174575 haplotype block

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 that tags a 10-SNP haplotype reducing basal FADS1 and FADS2 expression, lowering long-chain PUFA synthesis capacity and arachidonic acid levels; T allele carriers have lower D5D and D6D activity and reduced fasting insulin.

Intronic variant in FADS2 (delta-6 desaturase) associated with reduced enzyme activity and impaired conversion of plant-based omega-3 (ALA) and omega-6 (LA) precursors into long-chain PUFAs, with the T allele linked to lower circulating EPA and arachidonic acid

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

Near-gene variant influencing hepatic lipid metabolism; G allele raises triglycerides and LDL while A allele increases liver enzyme levels and fatty liver risk

Triglyceride metabolism - affects fasting triglyceride levels and cardiovascular risk

Intronic CD36 variant that reduces CD36 expression, impairing postprandial fat sensing and lipid clearance with dose-dependent effects on circulating sCD36 and LDL particle numbers.

Intronic CD36 variant associated with altered body adiposity and platelet CD36 expression; the minor A allele tags a haplotype linked to higher waist circumference and BMI, reflecting CD36's role in long-chain fatty acid sensing and uptake

A 16-bp deletion in the 3' untranslated region of CD36 that may reduce mRNA stability and lower CD36 protein expression at taste receptor cells and intestinal enterocytes, affecting dietary fat perception and fatty acid uptake

Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma apolipoprotein E and LDL cholesterol — rare G allele carriers have a favorable lipid profile

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 ELOVL2 associated with altered plasma phospholipid PUFA levels; the C allele tags a haplotype with reduced DHA production and higher DPA accumulation, indicating impaired elongation of DPA to the DHA precursor

Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (Phe356) is the GRCh38 reference but represents the minority allele globally, while the common A allele (Leu356) is found in ~97% of people and classified benign

A 3-bp deletion in intron 3 of FADS2 that reduces delta-6 desaturase activity, impairing conversion of the omega-3 precursor ALA to EPA and GLA to arachidonic acid; deletion carriers accumulate ALA in blood while producing less EPA, DPA, and DHA, with effects confirmed in a meta-analysis of 7 trials.

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

Intronic APOA2 tag SNP that captures the saturated fat-weight gain interaction — G allele carriers gain more weight on high saturated fat diets due to reduced APOA2-mediated satiety signaling

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, likely through linked regulatory changes that affect CD36 expression.

Intronic LIPG variant that modulates HDL cholesterol levels, with strongest effects on HDL particle size and concentration in physically inactive individuals

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 LIPC variant associated with higher baseline HDL-C and an amplified HDL-C response to intensive lifestyle intervention — particularly relevant for people with obesity and type 2 diabetes

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

Common regulatory variant at the APOA5-ZNF259 locus; G allele reduces ApoAV protein levels, impairing triglyceride clearance and raising plasma TG by ~13% per allele — one of the strongest common GWAS signals for triglycerides

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 with downstream effects on arachidonic acid production and inflammatory mediator balance.

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