Research — GeneOps

rs1800471 Signal-peptide missense variant altering TGF-β1 secretion levels, associated with cardiovascular inflammation, myocardial fibrosis, and coronary heart disease risk

Chromosome 19 Risk Allele G Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Fibrosis, Heart Disease, Growth Factors, Immune Response

Transforming growth factor beta 1 (TGF-β1) is one of the most versatile signaling molecules in the cardiovascular system — it can stabilize arterial plaques, suppress excessive inflammation, and regulate the repair of damaged heart muscle. But when TGF-β1 production tips too high or its signaling becomes...

rs1935949 Second independent FOXO3 longevity signal tagging a distinct intronic haplotype block with centenarian enrichment across Caucasian populations

Chromosome 6 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, Oxidative Stress, Inflammation, Cardiovascular, Ovarian Reserve, Menopause

FOXO3 is one of only two human genes — along with APOE — whose longevity associations have been consistently replicated across multiple independent populations and ancestries. The first FOXO3 signal, rs2802292(https://pubmed.ncbi.nlm.nih.gov/29733381/), has been studied intensively since 2008. But FOXO3's longevity...

rs199474703 Rare pathogenic missense variant in the myosin essential light chain causing hypertrophic cardiomyopathy with high penetrance in affected families

Chromosome 3 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Muscle, Congenital

Your heart's pumping power comes from millions of sarcomeres(https://pubmed.ncbi.nlm.nih.gov/26443374/) working in concert. The MYL3 gene encodes the essential myosin light chain (ELC), a structural component of the myosin thick filament that stabilizes the lever arm region and regulates the force and speed of...

rs200788251 Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers are asymptomatic, while biallelic carriers develop VLCAD deficiency—a fatty acid oxidation disorder with phenotypes ranging from neonatal cardiomyopathy to exercise-induced rhabdomyolysis

Chromosome 17 Risk Allele A Category Metabolic Enzymes & Rare Disorders Tags Fat Metabolism, Energy Metabolism, Mitochondria, Carrier Status, Genetic Counseling, Metabolic

Every time your body burns fat for energy during fasting, sleep, or prolonged exercise, it relies on a chain of enzymes inside the mitochondria. The first and rate-limiting step for very long-chain fatty acids (14–20 carbons) is carried out by very-long-chain acyl-CoA dehydrogenase(). This SNP, rs200788251,...

rs2066702 ADH1B*3 variant encoding a superactive alcohol dehydrogenase found almost exclusively in people of African descent, providing strong independent protection against alcoholism by accelerating the conversion of ethanol to acetaldehyde

Chromosome 4 Risk Allele A Category Mood & Behavior Tags Addiction, Alcohol, Detoxification, Liver Health, Ancestry

Alcohol dehydrogenase 1B (ADH1B) catalyzes the first step of alcohol metabolism, converting ethanol into acetaldehyde in the liver. Most people carry the common Arg370 form (ADH1B1). The ADH1B2 allele (His48Arg, rs1229984) is common in East Asian populations and encodes an enzyme roughly 100-fold more active than...

rs2070803 Near-gene regulatory variant that reduces MUC1 mucin expression on the gastric epithelium, impairing mucosal barrier defense and increasing susceptibility to diffuse-type gastric cancer

Chromosome 1 Risk Allele A Category IBD & Mucosal Immunity Tags Gastric Health, Mucin, H. pylori, Cancer Risk, Digestive Health

The gastric epithelium is under constant assault — acid, pepsin, ingested pathogens, and the chronic coloniser Helicobacter pylori(). The first line of defence is a thick mucus layer anchored by mucin glycoproteins, the most important of which is MUC1(https://www.ncbi.nlm.nih.gov/gene/4582). rs2070803 is a...

rs2231137 Missense variant in the ABCG2 transporter that impairs membrane localization and alters efflux of drugs, porphyrins, and urate, with the T allele associated with altered antiretroviral drug handling and reduced transporter activity in some cell models

Chromosome 4 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Drug Metabolism, Uric Acid, Endothelial Health, Inflammation

ABCG2 — also called Breast Cancer Resistance Protein (BCRP) — is one of the most versatile efflux pumps in the body. It sits at the apical surface of intestinal cells, renal tubules, and the blood–brain barrier, where it exports a wide range of substances including uric...

rs2413775 Promoter variant that increases SLC28A2/CNT2 transcription via enhanced HNF1 binding, affecting nucleoside analog drug transport in liver and kidney

Chromosome 15 Risk Allele T Category Vitamins & Nutrient Absorption Tags Pharmacogenomics, Drug Metabolism, Micronutrients, Hepatitis C, HCV Treatment

Every cell in your body depends on a continuous supply of nucleosides — the molecular building blocks of DNA and RNA — and specialized transport proteins ferry these molecules across cell membranes. One such transporter, CNT2(), sits at a critical junction in the intestinal wall and kidney tubules, governing how...

rs2469434 Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene associated with rheumatoid arthritis, multiple sclerosis, and altered neutrophil and white blood cell counts, likely acting as a regulatory variant that modulates CD226 expression in immune cells

Chromosome 18 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Rheumatoid Arthritis, Multiple Sclerosis, T-Cell Regulation, Immune & Autoimmune, Inflammation

CD226 (also known as DNAM-1, DNAX Accessory Molecule-1)(https://pubmed.ncbi.nlm.nih.gov/19904767/) is one of the few genes in the human genome where both coding and non-coding genetic variation independently contribute to autoimmune risk. rs2469434 sits deep within an intron of CD226 on chromosome 18q22, roughly...

rs2501401 Intronic eQTL in CNR2 (cannabinoid receptor 2) that modulates receptor expression on immune cells; the minor A allele is associated with reduced CB2 expression, potentially impairing endocannabinoid-mediated immune regulation

Chromosome 1 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Tags Endocannabinoid, Immune Function, Inflammation, Autoimmune, Cannabis

The CNR2 gene encodes the cannabinoid receptor 2(https://www.ncbi.nlm.nih.gov/gene/1269). Unlike its brain-dominant counterpart CB1, CB2 is the immune system's endocannabinoid tuning knob — when activated by endogenous ligands such as 2-arachidonoylglycerol (2-AG) and anandamide, it suppresses pro-inflammatory...