Research — GeneOps

rs6008845 Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience a 51% reduction in major cardiovascular events when treated with fenofibrate, while C-allele carriers show no cardiovascular benefit from the drug

Chromosome 22 Risk Allele C Category Atherogenic Lipoproteins Tags Pharmacogenomics, Cardiovascular, Lipid Metabolism, Statins, Heart Disease, Fat Metabolism

Fenofibrate(https://pubmed.ncbi.nlm.nih.gov/31974142/) has always been puzzling: large trials like ACCORD-Lipid showed that adding fenofibrate to statin therapy produces no average cardiovascular benefit. But "no average benefit" conceals a striking pharmacogenomic split. A variant at rs6008845 — a regulatory site...

rs6050 Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine for threonine at position 312, altering the alphaC domain targeted by factor XIIIa cross-linking and producing denser, lysis-resistant fibrin clots associated with elevated venous thromboembolism and pulmonary embolism risk

Chromosome 4 Risk Allele C Category Coagulation & Clotting Factors Tags Thrombophilia, Thrombosis, Blood Clotting, Cardiovascular, Fibrinolysis, Heart Disease

Fibrinogen(https://pubmed.ncbi.nlm.nih.gov/12707238/) is the final common substrate of coagulation. The FGA gene encodes the fibrinogen alpha chain, one of three polypeptide chains that assemble into the hexameric fibrinogen molecule. The Thr312Ala variant (rs6050) substitutes alanine for threonine at position 312...

rs660895 Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04:01 shared epitope haplotype, conferring elevated susceptibility to anti-citrullinated protein antibody (ACPA)-positive rheumatoid arthritis and accelerated joint damage progression.

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune Tags Rheumatoid Arthritis, HLA, Autoimmune, Inflammation, MHC Antigen Presentation, Biologic Therapy, Joints

The human leukocyte antigen (HLA) region on chromosome 6 is the single largest genetic risk factor for rheumatoid arthritis (RA), and within it the HLA-DRB1 gene dominates. rs660895 is a regulatory tag SNP that travels almost exclusively with the HLA-DRB104:01 allele(https://www.ncbi.nlm.nih.gov/gene/3123). The G...

rs72613567 Protective adenine insertion disrupting the HSD17B13 splice donor site, producing a truncated loss-of-function protein that reduces risk of NASH, alcoholic liver disease, cirrhosis, and hepatocellular carcinoma

Chromosome 4 Risk Allele D Category Liver Fat Tags Liver Health, Fat Metabolism, Alcohol, Inflammation, Liver Disease

Deep inside your liver cells, tiny fat droplets accumulate when caloric intake, alcohol, or metabolic stress overwhelm the liver's processing capacity. Coating the surface of these fat droplets is a lipid droplet–associated enzyme called HSD17B13(https://pubmed.ncbi.nlm.nih.gov/29562163/). In most people, this...

rs842999 Intronic GC variant tagging a haplotype associated with lower circulating 25-hydroxyvitamin D and reduced response to vitamin D supplementation and UVB exposure

Chromosome 4 Risk Allele C Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Micronutrients, Immune System, Mineral Metabolism

Circulating vitamin D travels through the bloodstream almost entirely in a carrier-bound form — roughly 85-90% of the 25-hydroxyvitamin D 25(OH)D() your doctor measures is hitched to vitamin D binding protein (VDBP)(), encoded by the GC gene on chromosome 4. The GC locus is the single strongest genetic determinant...

rs9796 A 3'UTR variant in INO80 that is associated with delayed ovarian ageing; the T allele tags a haplotype linked to greater INO80 chromatin remodeling activity, supporting DNA double-strand break repair and telomere maintenance in oocytes.

Chromosome 15 Risk Allele A Category Gamete Quality & DNA Repair Tags Fertility, Ovarian Reserve, DNA Repair, Telomere Biology, Aging, NAD+ Metabolism

Most women don't think of their eggs as requiring constant genomic maintenance, but oocytes suspended in meiotic arrest for decades are uniquely vulnerable to DNA damage accumulation. The protein encoded by INO80(https://omim.org/entry/610169) is one of the key guardians of this stability — and a variant in the...

rs1208 NAT2 acetylation speed tag SNP - marks rapid vs slow acetylator haplotypes

Chromosome 8 Risk Allele G Category Methylation & Detox Tags Detoxification, Acetylation, Drug Metabolism, Phase II, Xenobiotics

The R268K variant (rs1208) is often used as a tag SNP for NAT2 acetylator status because it is in strong linkage disequilibrium | Linkage disequilibrium means nearby genetic variants tend to be inherited together as a block rather than independently with rapid acetylator haplotypes. The A allele at this position...

rs12551268 Intronic IL33 variant where A-allele carriers showed a protective trend against childhood asthma in a Finnish birth cohort; may modulate IL-33 signalling by altering splice-site efficiency or regulatory element activity within the gene

Chromosome 9 Risk Allele A Category Allergy & Atopic Disease Tags Asthma, Innate Immunity, Inflammation, Lung Health, Immune Response

Your airways rely on a rapid alarm system. When epithelial cells lining the bronchi are damaged by allergens, viruses, or pollutants, they release a signalling protein called IL-33 (interleukin-33)(https://pubmed.ncbi.nlm.nih.gov/28273074/). Several common IL33 variants are known to amplify this signal, raising...

rs12610022 Intronic INSR variant that may alter insulin receptor expression or isoform balance, linked to insulin signaling and psychiatric risk

Chromosome 19 Risk Allele G Category Blood Sugar & Diabetes Tags Insulin, Insulin Resistance, Diabetes, Metabolic, Energy Metabolism

The insulin receptor (INSR) is the entry point for insulin signaling in every cell of the body. When insulin binds, it activates a receptor tyrosine kinase| A kinase is an enzyme that adds phosphate groups to target proteins, triggering a cascade of intracellular signals cascade that routes glucose into cells,...

rs12693542 Regulatory variant upstream of ferroportin (the sole cellular iron exporter) linked to restless legs syndrome through impaired brain iron delivery

Chromosome 2 Risk Allele G Category Neurology & Cognition Tags Iron, Sleep, Brain Health, Neurological Risk, Neuroinflammation

Every neuron, including the dopamine-producing cells of the substantia nigra(https://pubmed.ncbi.nlm.nih.gov/12913188/), depends on a steady supply of iron to sustain normal function. But iron cannot simply diffuse into the brain — it must cross specialized barriers, and the protein that controls its export from...