Research — GeneOps

rs11212617 Intronic variant near the ATM gene affecting metformin's activation of AMPK; the C allele confers improved glycemic response to metformin and links the DNA damage response pathway to longevity-relevant AMPK-mTOR signaling

Chromosome 11 Risk Allele A Category Longevity & Aging Tags Longevity, Aging, DNA Repair, Diabetes, Insulin, Autophagy

The ataxia telangiectasia mutated (ATM) gene encodes one of the master regulators of the cellular DNA damage response — a kinase that springs into action when double-strand DNA breaks are detected, coordinating cell cycle arrest, DNA repair, and, when damage is irreparable, programmed cell death. What makes ATM...

rs11568822 Promoter insertion variant in APOC1 that increases gene transcription by 50%, raising apolipoprotein C-I levels and strengthening CETP inhibition to produce higher HDL-cholesterol and lower triglycerides.

Chromosome 19 Category Cholesterol & Lipoproteins Tags HDL Cholesterol, Cholesterol, Lipid Metabolism, Cardiovascular, Triglycerides, Atherosclerosis

In the dense gene cluster on chromosome 19q13.32, four apolipoprotein genes — APOE, APOC1, APOC4, and APOC2 — share a pair of liver-specific regulatory elements called hepatic control regions (HCR-1 and HCR-2)(https://pubmed.ncbi.nlm.nih.gov/9360987/). A common insertion variant in the APOC1 promoter region, the...

rs11599236 Intronic variant in the BDNF-receptor trafficking gene SORCS3, associated with mood instability, neuroticism, reduced wellbeing, and cross-disorder psychiatric risk across multiple large GWAS

Chromosome 10 Risk Allele C Category Mood & Behavior Tags Mood, Anxiety, Neuroplasticity, Cognition, Brain Health, Neurotransmitters

Your brain constantly decides how strongly to respond to its own growth signals. Brain-derived neurotrophic factor (BDNF)() is among the most potent of these signals — yet unbridled BDNF activity would be disruptive. The SORCS3 gene encodes a molecular gatekeeper that sorts the BDNF receptor TrkB between active...

rs1173771 Regulatory variant near the NPR3 transcription start site that reduces natriuretic peptide clearance receptor expression in vascular smooth muscle and endothelial cells, raising blood pressure by impairing ANP and BNP removal from circulation

Chromosome 5 Risk Allele G Category Blood Pressure & Hypertension Tags Blood Pressure, Cardiovascular, Hypertension, Heart Disease, Kidney

Your blood pressure is governed in part by a family of hormones called natriuretic peptides(https://pubmed.ncbi.nlm.nih.gov/10377427/). These peptides act on blood vessel walls and kidneys to promote vasodilation and sodium excretion, pulling blood pressure back down. But natriuretic peptides need a mechanism to be...

rs119103258 Pathogenic missense variant in muscle glycogen phosphorylase causing post-translational protein loss; homozygous or compound heterozygous carriers develop McArdle disease (glycogen storage disease type V), the second most common PYGM pathogenic allele in Spanish populations

Chromosome 11 Risk Allele G Category Metabolic Enzymes & Rare Disorders Tags Muscle, Energy Metabolism, Exercise, Carrier Status, Metabolic, Genetic Counseling

Most genetic diseases work by a familiar logic: if you change a gene's sequence, you change its protein. But the PYGM Trp798Arg mutation (also written W798R or c.2392TC) tells a stranger story. Patients who carry this variant produce normal amounts of PYGM messenger RNA — the gene is being read and copied faithfully...

rs11942223 Intronic SLC2A9 variant tagging an independent urate-transport signal; the protective C allele (~26% global frequency) reduces serum uric acid by 0.23–0.46 mg/dL per copy — with a substantially stronger effect in women — and attenuates the hyperuricemic response to fructose; the major T allele confers elevated uric acid and increased gout risk, particularly in Europeans

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Cardiovascular, Diet

Your serum uric acid level is regulated in large part by transporters in your kidneys, and the strongest genetic region for that regulation sits in the SLC2A9 gene. Most people have heard of the coding variant rs3733591 (Arg265His), but the SLC2A9 locus contains a second, genetically independent signal — rs11942223...

rs12095080 3' UTR variant in the type 1 deiodinase gene associated with markedly increased cardiac mortality after myocardial infarction, acting through reduced local T4-to-T3 conversion in cardiac tissue

Chromosome 1 Risk Allele G Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Thyroid, Heart Disease, Hormones & Thyroid, Inflammation

The heart is among the most metabolically active organs in the body, and triiodothyronine (T3)(https://pubmed.ncbi.nlm.nih.gov/27776249/) is one of its principal regulators. T3 governs cardiac contractility, heart rate, coronary vasodilation, and — critically — the regenerative response to ischemic injury. The DIO1...

rs121434291 Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Chromosome 8 Risk Allele T Category Iron & Mineral Transport Tags Zinc, Micronutrients, Carrier Status, Minerals, Metal Metabolism, Genetic Counseling

Every cell in the body depends on zinc for more than 300 enzymes and 2,000+ transcription factors, yet the human body has no dedicated zinc storage organ — it must be continuously absorbed from food. In the intestine, that absorption flows primarily through a single gateway:...

rs121917747 Nonsense variant in sepiapterin reductase creating a premature stop codon (p.Lys251Ter) that abolishes BH4 synthesis, causing dopa-responsive dystonia with severe neurotransmitter depletion when inherited biallelically

Chromosome 2 Risk Allele T Category Vitamins & Nutrient Absorption Tags Neurotransmitters, Dopamine, Serotonin, Carrier Status, Neurological Risk, Micronutrients

Deep inside the brain's dopamine- and serotonin-producing neurons lies a biochemical chokepoint that few people have heard of: tetrahydrobiopterin(https://pubmed.ncbi.nlm.nih.gov/33903016/). Without BH4, these neurons cannot produce their neurotransmitters regardless of how much dietary tyrosine or tryptophan is...

rs121918473 Pathogenic PROS1 missense variant in the fourth EGF domain of protein S; heterozygous carriers have reduced free protein S activity and a markedly elevated risk of venous thromboembolism consistent with autosomal dominant type I protein S deficiency

Chromosome 3 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Thrombophilia, Cardiovascular, Thrombosis, Blood Thinners, Genetic Counseling

Protein S is a vitamin K-dependent plasma glycoprotein that acts as an essential cofactor for activated protein C (APC)(https://pubmed.ncbi.nlm.nih.gov/23986205/). Without adequate protein S, the APC system loses efficiency, and the body's ability to brake clot formation is compromised. The rs121918473 variant in...