Research — GeneOps

rs9378815 Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B cell differentiation and plasma cell output, associated with rheumatoid arthritis and systemic sclerosis susceptibility

Chromosome 6 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Tags Autoimmune, Immune & Autoimmune, B-Cell Signaling, Rheumatoid Arthritis, Interferon, T-Cell Regulation

Interferon Regulatory Factor 4 (IRF4) sits at the convergence of B cell and T cell biology. In germinal centers — the specialized lymph node structures where antibodies are refined and diversified — IRF4 acts as an essential transcriptional switch(https://pubmed.ncbi.nlm.nih.gov/16767092/) that must be thrown for a...

rs9393800 Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with earlier natural menopause (approximately 0.17 years per allele copy) by influencing expression of a meiosis-specific centromere protein essential for primordial follicle survival

Chromosome 6 Risk Allele G Category Fertility & Ovarian Function Tags Ovarian Reserve, Menopause, Fertility, Reproductive Health, Women's Health, Genomic Stability

Deep inside chromosome 6p24.2, a cluster of variants in and around the SYCP2L gene exerts some of the strongest genetic influences on when a woman reaches natural menopause. SYCP2L — synaptonemal complex protein 2-like(https://pubmed.ncbi.nlm.nih.gov/26362258/) — plays a critical role in maintaining the primordial...

rs146527530 Third independent CTSS-locus atopic dermatitis risk signal from the Budu-Aggrey 2023 GWAS; G allele associated with OR 1.25 for eczema risk through a distinct regulatory mechanism acting on cathepsin S expression in antigen-presenting cells

Chromosome 1 Risk Allele G Category Allergy & Atopic Disease Tags MHC Antigen Presentation, Immune & Autoimmune, Skin Health, Skin, Inflammation, Immune Response

Cathepsin S(https://pubmed.ncbi.nlm.nih.gov/8612130/) sits at the intersection of two major atopic dermatitis mechanisms: adaptive immune priming and histamine-independent itch. rs146527530 is the third of three statistically independent atopic dermatitis risk signals identified at the CTSS locus in the Budu-Aggrey...

rs16989673 A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stability and skeletal muscle PTP1B expression, amplifying negative regulation of the insulin receptor and contributing to insulin resistance.

Chromosome 20 Risk Allele I Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, Metabolic Health, Insulin, Blood Pressure

Every time insulin docks to its receptor on a muscle or liver cell, a molecular stopwatch starts. A phosphatase called PTP1B(https://www.ncbi.nlm.nih.gov/gene/5770) is assigned to flip the off-switch: it strips phosphate groups from the activated insulin receptor, ending the signal. The 1484insG variant in the...

rs1718119 Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore formation, IL-1β release, and microglial neuroinflammation, associated with mood disorders and chronic pain severity

Chromosome 12 Risk Allele A Category Neurology & Cognition Tags Neuroinflammation, Pain Sensitivity, Inflammation, Mental Health, Immune Function, Brain Health

The P2X7 receptor is an ATP-gated ion channel(https://pubmed.ncbi.nlm.nih.gov/24934217/) expressed predominantly on microglia — the brain's resident immune cells. When activated, P2X7 triggers the NLRP3 inflammasome, releases interleukin-1β (IL-1β), and drives neuroinflammation implicated in mood disorders, chronic...

rs17309872 Downstream regulatory variant of glutathione synthetase (GSS) associated with reduced glutathione production capacity and poorer survival in chemotherapy-treated lung cancer patients

Chromosome 20 Risk Allele T Category Methylation & Detox Tags Detoxification, Glutathione, Oxidative Stress, Phase II, Methylation & Detox, Cancer Risk, Glutathione Cycle

Glutathione (GSH) is often called the body's master antioxidant — and for good reason. This small tripeptide neutralizes reactive oxygen species, conjugates toxins for excretion, recycles vitamins C and E, and drives Phase II detoxification in the liver. The enzyme glutathione synthetase...

rs182052 Intronic/promoter-region ADIPOQ variant where the A allele reduces circulating adiponectin, blunting insulin sensitization and raising cardiovascular and metabolic risk

Chromosome 3 Risk Allele A Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Cardiovascular, Metabolic, Diabetes, Inflammation

Adiponectin is one of the most important hormones your fat tissue produces — it travels to muscle and liver to sharpen insulin sensitivity, dampen inflammation(https://pubmed.ncbi.nlm.nih.gov/20395949/), and reduce triglyceride synthesis. Higher circulating levels predict lower risk of type 2 diabetes, metabolic...

rs1934967 Intronic CYP2C9 haplotype tag associated with altered warfarin sensitivity and NSAID metabolism in Asian populations

Chromosome 10 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Warfarin, Pain Medication, Pharmacogenomics, Cardiovascular

CYP2C9 is the liver enzyme responsible for metabolizing roughly 15% of all clinically used drugs, most notably warfarin (the world's most prescribed oral anticoagulant), phenytoin (an anticonvulsant), and a broad range of NSAIDs including ibuprofen, celecoxib, and meloxicam. Getting a warfarin dose wrong can be...

rs2066853 Aryl hydrocarbon receptor variant in the transactivation domain that alters AHR signaling, affecting CYP1A2 inducibility, caffeine metabolism patterns, and circadian clock interactions

Chromosome 7 Risk Allele A Category Hormones & Sleep Tags Sleep, Circadian, Caffeine, Detoxification, Drug Metabolism

The aryl hydrocarbon receptor (AHR) is a ligand-activated transcription factor() best known for its role in detoxifying environmental pollutants such as dioxins and polycyclic aromatic hydrocarbons. But AHR wears many hats: it regulates immune function, gut barrier integrity, and -- critically for this category --...

rs2197089 Downstream regulatory variant affecting LPL expression and triglyceride clearance — the A allele increases LPL activity and lowers plasma triglycerides

Chromosome 8 Risk Allele G Category Triglycerides & Fatty Acids Tags Triglycerides, Fat Metabolism, Cardiovascular, Cholesterol, Diet

Lipoprotein lipase is the traffic controller of fat in your bloodstream. Every time you eat a meal containing fat, your body packages the fat into large particles called chylomicrons() and VLDL, which are then released into circulation. LPL, anchored to the walls of capillaries in muscle and fat tissue, breaks these...