Research — GeneOps

rs2291725 Missense variant in the GIP incretin hormone that changes its bioactivity and serum stability, with the derived Gly allele showing higher receptor activation and positive selection in Eurasian populations

Chromosome 17 Risk Allele T Category Hormones & Sleep Tags Sleep, Hormones, Insulin, Metabolic, Cardiovascular, Gut Health

Every time you eat, your small intestine releases a hormone called GIP (glucose-dependent insulinotropic polypeptide)(). GIP works alongside GLP-1 to drive up to 70% of the insulin your pancreas secretes after eating — a system called the incretin effect. The rs2291725 variant in the GIP gene changes a single amino...

rs266729 Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, and cardiovascular disease risk

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Nutrition & Metabolism, Insulin, Diabetes, Cardiovascular, Obesity, Inflammation

Adiponectin is the most abundant adipokine the body produces, secreted almost exclusively by fat tissue and acting as a master regulator of insulin sensitivity(https://www.ncbi.nlm.nih.gov/books/NBK537041/). The ADIPOQ gene's promoter region — the molecular switch that determines how actively the gene is transcribed...

rs2854117 Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipoprotein C-III, raising triglycerides and VLDL through impaired post-meal suppression of apoCIII secretion

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Tags Triglycerides, Fat Metabolism, Cardiovascular, Insulin Resistance, Cholesterol

Apolipoprotein C-III (apoCIII) is the body's master brake on triglyceride clearance. It coats triglyceride-rich VLDL particles and inhibits the lipoprotein lipase(https://pubmed.ncbi.nlm.nih.gov/11443500/) that would otherwise clear them. After a meal, healthy physiology suppresses apoCIII secretion — letting...

rs2918418 Intronic NR3C1 variant with CC genotype enriched in Polish centenarians; GG genotype associated with elevated total and LDL cholesterol in the oldest-old

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

The glucocorticoid receptor gene NR3C1 encodes the primary cellular transducer of cortisol signaling — a protein that, when activated, reshapes gene expression programs governing inflammation, metabolism, immune function, and the molecular hallmarks of cellular aging. This intronic variant (rs2918418) is the third...

rs3801387 Intronic variant affecting cortical bone thickness, bone mineral density, and fracture risk

Chromosome 7 Risk Allele A Category Fitness & Body Tags Bone & Joint, Cardiovascular, Diet, Vitamin D, Calcium

The WNT16 gene encodes a signaling protein(https://pubmed.ncbi.nlm.nih.gov/25306233/) crucial for bone development and maintenance. Among all the WNT family members, WNT16 stands out for its specific and powerful effect on cortical bone — the dense outer layer of bone that provides structural strength and accounts...

rs397516943 Pathogenic DSP nonsense variant creating a premature stop codon at position 160 (p.Arg160Ter), causing desmoplakin haploinsufficiency and desmoplakin-associated arrhythmogenic cardiomyopathy with predominantly left ventricular fibrosis

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

Your heart muscle is held together by molecular anchors called desmosomes(https://pubmed.ncbi.nlm.nih.gov/32372669/). Desmoplakin (DSP) is the largest desmosomal protein and acts as the structural linchpin, connecting desmosomal cadherins at the cell surface to the intermediate filament cytoskeleton deep inside the...

rs5743708 Missense variant in Toll-Like Receptor 2 impairing innate immune signaling to gram-positive bacteria and mycobacteria, increasing susceptibility to tuberculosis, sepsis, and staphylococcal infections

Chromosome 4 Risk Allele A Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Immune System, Skin Health

Every time your body encounters a bacterium, a first-responder system fires before the adaptive immune response even wakes up. Toll-Like Receptor 2 (TLR2)(https://www.ncbi.nlm.nih.gov/gene/7097) stands at this front line, recognizing bacterial lipoproteins, peptidoglycan, lipoteichoic acid, and mycobacterial...

rs5888 Synonymous variant that reduces SR-BI receptor expression and impairs HDL cholesterol uptake by the liver, lowering HDL-C levels and modestly increasing cardiovascular risk

Chromosome 12 Risk Allele A Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Heart Disease, Diet

Your liver clears cholesterol from the bloodstream using a receptor called SR-BI, encoded by the SCARB1 gene. SR-BI is the primary docking site where HDL particles offload their cholesterol cargo for processing and excretion in bile — the final step of reverse cholesterol transport(). When SR-BI expression is...

rs602662 Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorrin glycosylation and is one of the strongest genetic determinants of circulating vitamin B12 levels

Chromosome 19 Risk Allele G Category Vitamins & Nutrient Absorption Tags Vitamin B12, B Vitamins, Homocysteine, Methylation, Secretor Status, Cardiovascular

Your circulating vitamin B12 is not simply a readout of how much B12 you eat — it is actively shaped by the proteins that carry B12 in your blood and determine how quickly it is cleared from circulation. The FUT2 gene encodes alpha-(1,2)-fucosyltransferase 2(), an enzyme that influences B12 metabolism through a...

rs6323 X-linked monoamine oxidase A variant affecting enzyme activity and neurotransmitter breakdown

Chromosome X Risk Allele T Category Mood & Behavior Tags Mental Health, Neurotransmitters, Mood, ADHD, Depression, B Vitamins

Monoamine oxidase A (MAOA) is a mitochondrial enzyme responsible for breaking down neurotransmitters including serotonin, dopamine, norepinephrine, and epinephrine(https://pubmed.ncbi.nlm.nih.gov/). The rs6323 variant, despite being synonymous (meaning it doesn't change the amino acid sequence at position 297),...