Research — GeneOps

rs2246709 Intronic CYP3A4 variant associated with altered drug clearance, affecting metabolism of methadone, cyclosporine, and other CYP3A4 substrates

Chromosome 7 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Immunosuppressants, Pain Medication, Cardiovascular

CYP3A4 is the single most important drug-metabolizing enzyme in the human body, responsible for clearing approximately 50% of all prescription medications. Located in liver and intestinal cells, this cytochrome P450 enzyme(https://pubmed.ncbi.nlm.nih.gov/12814972/) processes everything from statins and...

rs2304672 Regulatory variant in a core clock gene that influences circadian timing, sleep-wake preference, and reward processing

Chromosome 2 Risk Allele C Category Hormones & Sleep Tags Sleep, Circadian, Chronotype, Neurotransmitters

The PER2 gene is one of the central gears in your body's circadian clock(). Every day, PER2 protein levels rise and fall in a precise rhythm: the protein accumulates, enters the nucleus to shut down its own gene, gets degraded, and the cycle starts again. This molecular oscillation is the heartbeat of circadian...

rs2854747 Intronic variant in IGFBP3 — the gene encoding the main carrier protein for IGF-1 in circulation — associated with lower circulating IGFBP-3 levels in carriers of the G allele

Chromosome 7 Risk Allele G Category Fat Storage & Energy Tags Growth Factors, Cancer Risk, Longevity, Insulin, Micronutrients, Aging

Most of the insulin-like growth factor-1 (IGF-1) circulating in your blood is not free — it is bound to IGFBP-3 (insulin-like growth factor binding protein 3), a carrier protein that acts as both a reservoir and a gatekeeper for IGF-1. IGFBP-3 sequesters 75–90% of circulating IGF-1() in a large ternary complex...

rs2919872 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

Chromosome 2 Risk Allele T Category Triglycerides & Fatty Acids Tags Triglycerides, Fat Metabolism, Liver Health, Cardiovascular, Liver Disease

Deep in chromosome 2, about 2,000 base pairs before the FABP1 gene begins, sits a single nucleotide change that determines how actively your liver produces its primary fatty acid shuttle protein. FABP1 — Fatty Acid Binding Protein 1, also called L-FABP (liver FABP) — is the most abundant intracellular fatty acid...

rs2963154 Intronic NR3C1 variant with TT genotype enriched in Polish centenarians; C allele associated with elevated cholesterol in the oldest-old

Chromosome 5 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, HPA Axis, Cortisol, Cholesterol, Cardiovascular

Your glucocorticoid receptor (GR), encoded by NR3C1, is the molecular dock through which cortisol communicates with nearly every cell in your body. It governs inflammation, metabolism, stress adaptation, immune function, and — increasingly clear from longevity research — the pace at which your cells age. Most NR3C1...

rs397516946 Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the protein by 1,062 amino acids, disrupting desmosomal junctions in the heart and causing arrhythmogenic cardiomyopathy with left ventricular predominance

Chromosome 6 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Fibrosis, Arrhythmia, Carrier Status

The heart beats roughly 100,000 times per day. Each contraction generates forces that would tear ordinary tissue apart — forces absorbed by desmosomes(https://pubmed.ncbi.nlm.nih.gov/32372669/) at the boundaries between cardiac muscle cells. Desmoplakin (DSP) is the largest and most abundant desmosomal protein,...

rs4235308 Intronic variant in the PGC-1alpha gene linked to population-specific type 2 diabetes risk and mitochondrial biogenesis regulation

Chromosome 4 Risk Allele C Category Fitness & Body Tags Mitochondria, Fitness, Diabetes, Metabolic, Endurance, Insulin

PPARGC1A encodes PGC-1alpha(), sometimes called "the switch that turns on the power station." Every endurance adaptation your muscles make to training — more mitochondria, better fat oxidation, higher aerobic capacity — runs through PGC-1alpha. rs4235308 is an intronic variant in this gene that appears to influence...

rs5743810 Coding variant replacing serine with proline at TLR6 position 249, altering TLR2/TLR6 heterodimer signaling intensity for diacylated lipopeptides from bacteria and mycoplasma — Pro249 confers stronger NF-κB activation while Ser249 reduces TLR2/TLR6-mediated inflammation, with consequences for leprosy susceptibility, cardiovascular risk, and upper genital tract infections

Chromosome 4 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Cardiovascular

Your immune cells face a daily challenge: detecting bacteria and mycoplasmas without triggering damaging inflammation. Toll-Like Receptor 6 (TLR6)(https://www.ncbi.nlm.nih.gov/gene/10333) is a front-line sensor calibrated for exactly this task. The rs5743810 Ser249Pro coding variant at position 249 of the...

rs6053005 Intronic variant in the SVCT2 tissue vitamin C transporter — associated with differences in plasma vitamin C levels in the EPIC cohort

Chromosome 20 Risk Allele T Category Vitamins & Nutrient Absorption Tags Vitamin C, Vitamins, Micronutrients, Diet

Vitamin C reaches your body's tissues in two steps: absorption from the gut (handled by SVCT1()), followed by selective uptake into individual cells and organs (handled by SVCT2()). While SVCT1 controls whole-body vitamin C homeostasis, SVCT2 ensures that the organs with the highest metabolic demand — brain, adrenal...

rs606231236 Pathogenic APOB splice acceptor variant causing familial hypobetalipoproteinemia — heterozygous carriers have ~50% lower LDL-C and apoB, conferring cardiovascular protection but requiring liver and fat-soluble vitamin monitoring

Chromosome 2 Risk Allele I Category Cholesterol & Lipoproteins Tags Fat Metabolism, Cholesterol, Cardiovascular, Liver Health, LDL Cholesterol

Most people fear high LDL cholesterol, but some individuals carry a variant that drives LDL in the opposite direction — dramatically lower than normal. This APOB splice acceptor variant (c.905-1905dup) was first identified in a consanguineous French Canadian(https://pubmed.ncbi.nlm.nih.gov/21981844/) family and is...