Research — GeneOps

rs3734398 3' UTR variant in the ELOVL2 elongase gene that reduces DHA synthesis from its precursor DPA, lowering baseline plasma DHA in C-allele carriers

Chromosome 6 Risk Allele C Category Triglycerides & Fatty Acids Tags Omega-3, Lipid Metabolism, Cardiovascular, Aging, Supplement

Your body can make DHA from shorter omega-3 fats, but the last elongation step is rate-limiting. ELOVL2 (elongation of very long chain fatty acids 2) is the enzyme responsible for converting DPA into the final DHA product. Variants at the ELOVL2 locus(https://pubmed.ncbi.nlm.nih.gov/21829377/) substantially change...

rs3816873 Missense variant in MTTP (microsomal triglyceride transfer protein) at residue 128; the C allele (Thr128) is associated with reduced hepatic steatosis and lower LDL-cholesterol through a complex, incompletely characterized effect on triglyceride transfer activity

Chromosome 4 Risk Allele C Category Fat Storage & Energy Tags Lipid Metabolism, Triglycerides, Fat Metabolism, Metabolic, Cholesterol, Liver Health

Your liver is a lipid logistics hub. Every gram of fat synthesized from excess carbohydrate, every fatty acid rescued from circulation, every dietary fat re-exported after absorption — all of it leaves the liver packaged into VLDL particles(https://pubmed.ncbi.nlm.nih.gov/37248657/). The enzyme responsible for...

rs587776949 Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; homozygous carriers develop Leigh syndrome, a severe infantile encephalopathy; heterozygous carriers are unaffected but carry a reproductive risk, particularly in Ashkenazi Jewish families

Chromosome 5 Risk Allele D Category Longevity & Aging Tags Mitochondria, Longevity, Neurological Risk, Carrier Status, Reproductive Health, Genetic Counseling

Mitochondrial complex I (NADH:ubiquinone oxidoreductase(https://www.ncbi.nlm.nih.gov/gene/4724)) is the cell's primary engine for converting food into energy. The NDUFS4 subunit is a nuclear-encoded accessory subunit(https://www.ncbi.nlm.nih.gov/gene/4724) required for complete complex I assembly and activation. The...

rs699 Angiotensinogen level variant affecting blood pressure, sodium sensitivity, and cardiovascular adaptation to exercise

Chromosome 1 Risk Allele G Category Fitness & Body Tags Cardiovascular, Diet, Fitness, Blood Pressure, Salt Sensitivity

Angiotensinogen (AGT) is the precursor protein of the renin-angiotensin system() (RAS), one of the body's primary blood pressure control mechanisms. The M235T variant (rs699) changes a methionine to threonine at position 235 of the mature protein, and is one of the most-studied cardiovascular genetic variants with...

rs6994076 Regulates expression of the alpha-tocopherol transfer protein, the key determinant of circulating vitamin E levels

Chromosome 8 Risk Allele T Category Vitamins & Nutrient Absorption Tags Vitamins, Vitamin E, Diet, Cardiovascular

Vitamin E is the body's primary fat-soluble antioxidant(), protecting every cell membrane from oxidative damage. But absorbing vitamin E from food is only the first step --- your liver must actively select and redistribute it to the rest of your body. That job falls to a single protein: alpha-tocopherol transfer...

rs77931234 Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predisposing to fatty acid oxidation failure and cardiac stress during fasting, illness, or exercise

Chromosome 1 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Fat Metabolism, Cardiovascular, Mitochondria, Arrhythmia, Energy Metabolism, Carrier Status

The body runs on two primary fuels: glucose and fat. During fasting, prolonged exercise, or illness, glucose runs low and the heart, liver, and muscles switch to burning fatty acids. This switch depends on mitochondrial beta-oxidation(https://pubmed.ncbi.nlm.nih.gov/20301597/). Medium-chain acyl-CoA dehydrogenase...

rs8177374 Missense variant in the TLR2/TLR4 adaptor protein Mal that modulates innate immune signaling strength, conferring broad infectious disease protection in heterozygous carriers

Chromosome 11 Risk Allele T Category Innate Immunity & Infection Defense Tags Immune System, Inflammation, Infectious Disease, Autoimmune, Innate Immunity

Your immune system's first line of defense against bacteria depends on sensing microbial invaders through a family of receptors called Toll-like receptors (TLRs). TIRAP (also known as MAL)(https://www.ncbi.nlm.nih.gov/gene/114609) is an essential adaptor molecule in this alarm system. The Ser180Leu variant...

rs838880 3' UTR variant in SCARB1 that tags a haplotype with reduced SR-BI expression in the liver, lowering HDL cholesterol and impairing reverse cholesterol transport efficiency

Chromosome 12 Risk Allele T Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Triglycerides

SR-BI(https://pubmed.ncbi.nlm.nih.gov/35575922/) sits at the end of the reverse cholesterol transport pathway — the arterial self-cleaning system that moves cholesterol from artery walls back to the liver. While most HDL-related genes work upstream, SR-BI is the final step: it docks HDL in the liver and extracts its...

rs9818870 3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increased coronary artery disease risk through altered vascular smooth muscle cell signaling

Chromosome 3 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Inflammation, Statins

The MRAS gene (Muscle RAS Oncogene Homolog) on chromosome 3q22.3 encodes a small GTPase(https://pubmed.ncbi.nlm.nih.gov/19198612/) belonging to the Ras superfamily. MRAS is highly expressed in cardiovascular tissue — particularly the heart and aorta — where it participates in MAPK/ERK and PI3K/AKT...

rs2040410 Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB1*0301-DQA1*0501-DQB1*0201) haplotype; the T allele tracks the highest-risk HLA genotype for type 1 diabetes and is associated with systemic lupus erythematosus, sarcoidosis, and HLA-mediated immune dysregulation relevant to atopic disease

Chromosome 6 Risk Allele T Category Allergy & Atopic Disease Tags HLA, MHC Antigen Presentation, Autoimmune, Type 1 Diabetes, Inflammation, Immune & Autoimmune

Deep inside chromosome 6 lies the major histocompatibility complex (MHC) — the most gene-dense region of the human genome and the strongest known genetic determinant of autoimmune disease. rs2040410 sits within this region, just downstream of the HLA-DQA1(https://www.ncbi.nlm.nih.gov/gene/3117). It acts as a tag...