Research — GeneOps

rs1165205 Intronic variant in SLC17A3, encoding the renal apical urate efflux transporter NPT4; the A allele is associated with reduced urate secretory capacity, raising serum uric acid and increasing gout risk

Chromosome 6 Risk Allele A Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Kidney Function, Renal Function, Micronutrients, Diet

Every day your kidneys filter and then selectively reclaim or discard uric acid as they fine-tune the serum urate setpoint. Most people know about the reabsorptive side of this equation — transporters like URAT1(https://pubmed.ncbi.nlm.nih.gov/34290818/) that pull uric acid back from the urine into the blood. But...

rs11652075 Missense variant in the keratinocyte NF-κB scaffold protein CARD14 that modestly elevates psoriasis susceptibility and strongly predicts favorable response to anti-TNF biologic therapy (adalimumab, etanercept, infliximab)

Chromosome 17 Risk Allele C Category Psoriasis & Spondyloarthropathy Tags Psoriasis, Skin, Inflammation, Biologic Therapy, Anti-TNF Biologics, Autoimmune

CARD14 is a scaffold protein(https://pubmed.ncbi.nlm.nih.gov/22521419/) expressed primarily in keratinocytes — the epidermal cells that form the skin barrier. Under inflammatory conditions, CARD14 recruits BCL10 and MALT1 to form an activation complex that triggers NF-κB(https://pubmed.ncbi.nlm.nih.gov/22521419/)...

rs118204015 Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier status relevant for reproductive counseling and newborn screening awareness

Chromosome 17 Risk Allele C Category Liver Fat Tags Fat Metabolism, Carrier Status, Mitochondria, Energy Metabolism, Genetic Counseling, Congenital

Inside every mitochondrion, a molecular relay strips energy from fat molecules two carbons at a time in a process called beta-oxidation(https://www.ncbi.nlm.nih.gov/books/NBK6816/). Very long-chain acyl-CoA dehydrogenase (VLCAD), encoded by the ACADVL gene on chromosome 17, catalyzes the critical first step in this...

rs11854484 Missense variant in the concentrative nucleoside transporter 2 (CNT2) gene that increases intestinal ribavirin absorption, raising serum drug levels and doubling the risk of ribavirin-induced hemolytic anemia during hepatitis C treatment; also modulates purine nucleoside bioavailability in liver and gut

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

Every dose of ribavirin you swallow must cross the intestinal wall before it can reach the bloodstream, and the protein doing most of that work is CNT2(https://pubmed.ncbi.nlm.nih.gov/12856181/), encoded by SLC28A2 on chromosome 15q21.1. The rs11854484 variant changes a proline to leucine at position 22 of this...

rs11857380 Intronic LIPC variant tagging reduced hepatic lipase expression; G allele associated with elevated HDL cholesterol and lower risk of age-related macular degeneration

Chromosome 15 Risk Allele T Category Triglycerides & Fatty Acids Tags Cholesterol, Fat Metabolism, Cardiovascular, Triglycerides, Diet

Hepatic lipase, encoded by the LIPC gene(https://www.ncbi.nlm.nih.gov/gene/3990) on chromosome 15, is a lipolytic enzyme synthesized in hepatocytes and anchored to liver sinusoidal endothelial cells. It serves two linked roles: converting the larger, cholesterol-rich HDL2 particles into smaller HDL3 particles (a...

rs12101255 Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic expression of the TSH receptor, allowing autoreactive T cells to escape tolerance and increasing susceptibility to Graves' disease — the most common autoimmune cause of hyperthyroidism

Chromosome 14 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Thyroid, Hormones & Thyroid, Immune & Autoimmune, Inflammation

The thyroid stimulating hormone receptor sits at the centre of the thyroid axis. TSH released by the pituitary binds TSHR on thyroid follicular cells, driving production of T3 and T4. In Graves' disease — the most common autoimmune cause of hyperthyroidism — the immune system generates stimulating autoantibodies...

rs121434288 Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Chromosome 8 Risk Allele T Category Iron & Mineral Transport Tags Zinc, Micronutrients, Carrier Status, Minerals, Metal Metabolism, Genetic Counseling

Every cell in the body needs zinc for more than 300 enzymes and 2,000+ transcription factors, yet the human body has no dedicated zinc storage organ — it must be continuously absorbed from food. In the intestine, most of that absorption flows through a single gateway: ZIP4(https://pubmed.ncbi.nlm.nih.gov/12068297/)....

rs121909548 Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed thrombin inhibition, causing type II reactive-site antithrombin deficiency and approximately 10-fold increased venous thromboembolism risk

Chromosome 1 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Thrombophilia, Blood Clotting, Thrombosis, Cardiovascular, Genetic Counseling, Blood Thinners

Antithrombin is the body's principal brake on coagulation — a serine protease inhibitor(https://pubmed.ncbi.nlm.nih.gov/27281301/) that directly quenches thrombin and factor Xa, the central enzymes of the coagulation cascade. Without adequate antithrombin activity, clot formation goes unchecked, and blood can clot...

rs121965063 Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing severe FXI deficiency (hemophilia C) in homozygotes and partial deficiency in heterozygotes; associated with surgical bleeding risk at mucosal sites and, paradoxically, reduced ischemic stroke and DVT risk

Chromosome 4 Risk Allele T Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombosis, Carrier Status, Genetic Counseling, Thrombophilia

Coagulation factor XI (FXI) occupies a paradoxical position in the blood clotting system. It amplifies thrombin generation inside growing clots, stabilizes fibrin networks against premature dissolution, and maintains hemostasis in tissues where the body's own clot-dissolving enzymes work aggressively. Yet people who...

rs12232375 Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the C allele associates with lower mean corpuscular hemoglobin, altered plateletcrit, elevated reticulocyte count, and minor PR interval prolongation

Chromosome 16 Risk Allele C Category Arrhythmia & Heart Rhythm Tags Erythropoiesis, Cardiovascular, Heart Disease, Iron, Inflammation

Deep in chromosome 16, a single gene quietly coordinates two of the body's most vital systems: blood cell production and cardiac structure. ZFPM1 encodes FOG1 (Friend of GATA 1)(https://pubmed.ncbi.nlm.nih.gov/38757931/). Without functional FOG1, developing red blood cells stall at the proerythroblast stage and fail...