Research — GeneOps

rs202676 Reduces intestinal folate hydrolase activity, impairing absorption of dietary polyglutamyl folates and lowering circulating folate available for methylation

Chromosome 11 Risk Allele G Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Homocysteine, Cognition

Before folate from food can enter your bloodstream, it must be stripped of its glutamate chain. Dietary folates arrive from leafy greens, legumes, and liver as polyglutamylated forms | Polyglutamyl folates: folate molecules with 3–9 glutamate residues attached; found in natural foods but too large to cross the...

rs2230912 Missense variant in the C-terminal domain of the P2X7 receptor that disrupts normal receptor dimerisation when coexpressed with the wild-type allele, with the G (Arg460) allele associated with major depressive disorder in a large meta-analysis and with higher multiple sclerosis severity scores; the A (Gln460, low-activity) allele is independently linked to rapid cycling in bipolar disorder

Chromosome 12 Risk Allele G Category Neurology & Cognition Tags Neuroinflammation, Mental Health, Mood, Brain Health, Sleep, Inflammation

The P2X7 receptor is an ATP-gated ion channel(https://pubmed.ncbi.nlm.nih.gov/16822851/) expressed on microglia, monocytes, and neurons throughout the brain. When activated, P2X7 drives the NLRP3 inflammasome and releases interleukin-1β (IL-1β), shaping neuroinflammation implicated in mood disorders and...

rs2295490 TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing insulin signaling across liver, muscle, and pancreatic beta cells, with associated risk for insulin resistance and type 2 diabetes

Chromosome 20 Risk Allele G Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, Insulin, Metabolic, Cardiovascular, Energy Metabolism

TRIB3 (Tribbles Pseudokinase 3) is a critical regulator of insulin action. It works by binding directly to Akt — the central kinase through which insulin drives glucose uptake, glycogen synthesis, and beta-cell survival — and blocking its activation. The rs2295490 variant, a glutamine-to-arginine substitution at...

rs2740574 Promoter variant affecting CYP3A4 expression, most common in African populations

Chromosome 7 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Cancer Risk, Ancestry

CYP3A4 is the workhorse of human drug metabolism, responsible for processing approximately 50% of all prescription medications. Located primarily in the liver and intestines, this cytochrome P450 enzyme(https://pubmed.ncbi.nlm.nih.gov/12814972/) breaks down everything from statins to immunosuppressants to...

rs3212018 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

Chromosome 7 Risk Allele D Category Triglycerides & Fatty Acids Tags Fat Metabolism, Lipid Metabolism, Diet, Obesity, Appetite

Your ability to taste dietary fat is not just a matter of preference — it is partly encoded in your DNA. CD36(https://pubmed.ncbi.nlm.nih.gov/22248592/) is expressed on the taste bud cells of the circumvallate papillae at the back of the tongue, where it acts as the primary sensor for long-chain fatty acids in food....

rs34536443 A missense variant in TYK2 that partially impairs JAK-family signaling downstream of IL-12, IL-23, and type I interferons, conferring broad protection against multiple autoimmune diseases including rheumatoid arthritis, lupus, multiple sclerosis, psoriasis, type 1 diabetes, and hypothyroidism

Chromosome 19 Risk Allele G Category Hormones & Sleep Tags Autoimmune, Interferon, Inflammation, Thyroid, Multiple Sclerosis, Rheumatoid Arthritis

Your immune system runs on a network of molecular switches that amplify responses to infection and then shut them off before they damage healthy tissue. TYK2(https://pubmed.ncbi.nlm.nih.gov/30740104/) is one of those amplifiers — it sits at the junction of the IL-12, IL-23, and type I interferon pathways, three...

rs3745012 3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and insulin sensitivity, with risk for type 2 diabetes that is amplified by obesity

Chromosome 18 Risk Allele G Category Fat Storage & Energy Tags Fat Distribution, Insulin Resistance, Diabetes, Obesity, Metabolic, Adipogenesis

LPIN2 (lipin 2) encodes a phosphatidate phosphatase — an enzyme that converts phosphatidic acid to diacylglycerol, a critical branching point in the pathway that distributes lipids between triglyceride storage and phospholipid membrane synthesis. LPIN2 also acts as a transcriptional...

rs4975605 Intronic TERT variant influencing telomere maintenance, associated with testicular and ovarian cancer risk, reduced platinum chemotherapy benefit in lung cancer, and a protective effect against paranoid schizophrenia

Chromosome 5 Risk Allele A Category Longevity & Aging Tags Telomere Biology, Cancer Risk, Aging, Longevity, Cancer Screening, Genomic Stability

TERT (telomerase reverse transcriptase) is the catalytic engine of telomerase, the molecular complex that rebuilds the protective caps (telomeres) at the ends of chromosomes after each cell division. The 5p15.33 genomic region — where TERT sits — is one of the most pleiotropic loci in the human genome, with multiple...

rs63749869 RYR1 missense variant causing malignant hyperthermia susceptibility and central core disease; carriers face life-threatening reactions to volatile anesthetics and succinylcholine

Chromosome 19 Risk Allele A Category Fitness & Body Tags Anesthesia, Muscle, Pharmacogenomics, Drug Response, Calcium, Fitness

Most people never know they carry a dangerous reaction waiting inside their muscle cells—until the moment a surgeon reaches for a gas mask. Malignant hyperthermia (MH) is a pharmacogenetic crisis of skeletal muscle(https://pubmed.ncbi.nlm.nih.gov/17456235/). The rs63749869 variant in the RYR1 gene is one of the most...

rs6596471 Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT1) representing an independent haplotype signal at the SLC23A1 locus — the G allele is associated with lower plasma vitamin C concentrations via reduced transporter output distinct from the Val264Met missense variant (rs33972313)

Chromosome 5 Risk Allele G Category Vitamins & Nutrient Absorption Tags Vitamin C, Vitamins, Micronutrients, Antioxidants, Diet, Renal Function

Your body cannot synthesize vitamin C. Every molecule of ascorbate() in your bloodstream was absorbed from food by your intestine and then conserved by your kidneys. Both steps depend on SVCT1(), the transporter encoded by SLC23A1. rs6596471 is an intronic variant in this gene that was identified as one of four...