Research — GeneOps

rs1801272 Loss-of-function CYP2A6 variant that abolishes nicotine metabolism, slowing clearance of nicotine, cotinine, coumarin, letrozole, tegafur, and efavirenz

Chromosome 19 Risk Allele T Category Pharmacogenomics Tags Pharmacogenomics, Drug Metabolism, Smoking, Addiction, Cancer Risk, Lung Cancer

Your liver converts nicotine to cotinine in minutes. The enzyme doing this work — CYP2A6 — is encoded by one of the most polymorphic drug-metabolism genes in the human genome. The CYP2A62 allele(https://www.ncbi.nlm.nih.gov/snp/rs1801272) swaps a single amino acid at position 160 of the protein, replacing leucine...

rs1815739 Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, influencing sprint/power vs endurance capacity

Chromosome 11 Risk Allele T Category Fitness & Body Tags Fitness, Muscle, Sprint & Power, Endurance, Injury Risk, Cardiovascular

The ACTN3 gene encodes alpha-actinin-3(), a structural protein found exclusively in fast-twitch (type II) muscle fibers. It is arguably the most replicated finding in exercise genetics. A single C-to-T change at position 577 converts an arginine codon to a premature stop codon, completely abolishing protein...

rs1884614 Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele impairs glucose-stimulated insulin secretion — particularly in non-obese individuals — by reducing beta-cell-specific HNF4A isoform expression, and confers elevated diabetes risk with a notably strong effect under metabolic stress (OR 2.44 for post-transplant diabetes)

Chromosome 20 Risk Allele T Category Hormones & Sleep Tags Pancreatic Beta Cell, Insulin, Hormones, Fasting Glucose, Metabolic Health, Diabetes

Your pancreatic beta cells carry a dedicated gene control switch — the P2 promoter of HNF4A(https://pubmed.ncbi.nlm.nih.gov/15047633/) — that coordinates dozens of genes required for glucose-stimulated insulin secretion. rs1884614 is a common intronic variant located within the P2 haplotype block on chromosome 20....

rs2000813 Missense variant in endothelial lipase that tags a regulatory haplotype associated with modestly higher HDL cholesterol through reduced LIPG expression

Chromosome 18 Risk Allele T Category Triglycerides & Fatty Acids Tags Cholesterol, Fat Metabolism, Cardiovascular, Diet, Triglycerides

Your HDL cholesterol is not just a passive bystander in cardiovascular health — it is actively dismantled and rebuilt by a family of enzymes, and endothelial lipase (EL)(https://www.ncbi.nlm.nih.gov/gene/9388) is one of the primary drivers of HDL catabolism. Unlike lipoprotein lipase (which targets triglyceride-rich...

rs2237583 Intronic PON1 variant that modulates arylesterase activity of the HDL-bound antioxidant enzyme paraoxonase-1, influencing protection against LDL oxidation and atherosclerosis

Chromosome 7 Risk Allele C Category Vascular Inflammation & Remodeling Tags Cardiovascular, Antioxidants, HDL Cholesterol, Oxidative Stress, Atherosclerosis

Paraoxonase-1 (PON1) is one of the most important enzymes you've likely never heard of. It travels attached to HDL particles(https://pubmed.ncbi.nlm.nih.gov/18349088/) in the bloodstream, where its primary job is to hydrolyze oxidized phospholipids(https://pubmed.ncbi.nlm.nih.gov/22685667/) before they can damage...

rs2274700 Synonymous CFH variant in complete LD with rs1410996 that tags the complement-dysregulation haplotype driving age-related macular degeneration; G allele (risk) impairs complement regulation on retinal surfaces

Chromosome 1 Risk Allele G Category Longevity & Aging Tags Eye Health, Aging, Complement System, Longevity, Inflammation, Retinal Health

Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in people over 65, and dysregulation of the complement immune system is its best-understood molecular driver. rs2274700 is a synonymous variant in exon 10 of CFH (Complement Factor H) — it does not change the amino acid sequence...

rs2853579 Synonymous coding variant in ABCA1 that tags a regulatory element influencing transporter expression; the common G allele associates with the population-average HDL baseline, while the rare T allele associates with modestly higher HDL-cholesterol

Chromosome 9 Risk Allele G Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, HDL Cholesterol, Cardiovascular, LDL Cholesterol

ABCA1| ATP-Binding Cassette Transporter A1 — a cell-membrane pump that loads cholesterol and phospholipids onto lipid-poor apolipoprotein A-I, forming nascent HDL particles is the primary gatekeeper of reverse cholesterol transport(). Without ABCA1, cells cannot shed excess cholesterol and HDL formation collapses....

rs28929474 Most common alpha-1 antitrypsin deficiency variant causing protein misfolding, lung disease, and liver disease

Chromosome 14 Risk Allele T Category Metabolic Enzymes & Rare Disorders Tags Detoxification, Lung Health, Liver Disease, Protease Inhibitor, Inflammation, Cardiovascular, Smoking Related

Alpha-1 antitrypsin (AAT) is the body's primary defense against neutrophil elastase, a powerful enzyme(https://medlineplus.gov/genetics/gene/serpina1/) that can destroy lung tissue if left unchecked. The Z allele (Glu342Lys) is the most common genetic variant causing severe AAT deficiency, affecting approximately 1...

rs3197999 Macrophage-stimulating protein variant affecting innate immune response and IBD susceptibility

Chromosome 3 Risk Allele A Category IBD & Mucosal Immunity Tags Immune & Gut, IBD, Innate Immunity, Macrophage, Crohn's Disease, Ulcerative Colitis, Autoimmune

Your MST1 gene encodes macrophage-stimulating protein (MSP), a critical regulator of innate immune responses(https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2020.569082/full) to bacterial challenges in the gut. The rs3197999 variant causes an arginine-to-cysteine substitution at position 689...

rs324420 Affects anandamide levels through altered FAAH enzyme stability, influencing pain sensitivity, stress response, fear extinction, and mood regulation

Chromosome 1 Risk Allele A Category Mood & Behavior Tags Mental Health, Neurotransmitters, Pain Management, Stress Response, Anxiety, Addiction, Endocannabinoid, Cannabis

The FAAH gene encodes fatty acid amide hydrolase(https://pubmed.ncbi.nlm.nih.gov/12060782/), which binds to the same receptors as THC from cannabis. The rs324420 variant changes a single amino acid at position 129 from proline to threonine, making the enzyme more vulnerable to breakdown. Carriers of the A allele...