Research — GeneOps

rs6837293 Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele was associated with gout susceptibility in a recessive model in a Taiwanese population, proposed to amplify joint inflammation via cGKII-driven macrophage M1 polarization, though a Japanese replication study found no association

Chromosome 4 Risk Allele T Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Inflammation, Innate Immunity, Diet, Metabolic

When a gout attack strikes, the pain is driven not just by uric acid crystals lodging in a joint — it's driven by the inflammatory cascade those crystals ignite. PRKG2 encodes cGMP-dependent protein kinase II (cGKII)(https://pubmed.ncbi.nlm.nih.gov/25475742/), a signaling enzyme that turns out to sit at a key...

rs693 Silent variant affecting LDL particle number and lipid metabolism; A allele carriers have higher ApoB, LDL-C, and total cholesterol levels

Chromosome 2 Risk Allele A Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, Triglycerides, Diet

The rs693 variant, known historically as the XbaI polymorphism, sits in exon 26 of the APOB gene(https://omim.org/entry/107730). Despite being a "silent" or synonymous mutation—the DNA change from C to T doesn't alter the amino acid (both code for threonine)—this variant has surprisingly robust effects on blood...

rs7514229 Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associated with altered OX40 ligand expression, influencing T cell co-stimulation and susceptibility to autoimmune thyroid disease and viral immune responses

Chromosome 1 Risk Allele T Category Interferon Signaling & Systemic Autoimmune Tags Autoimmune, Thyroid, T-Cell Regulation, Immune & Autoimmune, Inflammation, Autoimmunity

Every adaptive immune response requires a second signal beyond antigen recognition. The OX40–OX40L axis(https://www.ncbi.nlm.nih.gov/gene/8600) is one of the most important of those second signals — controlling whether activated T cells survive, expand into effector cells, and help B cells mature into...

rs1295686 Intronic variant in IL13 that tags the atopic risk haplotype; the minor T allele co-segregates with rs20541 (R130Q) and rs1295685 on the same risk haplotype block and is consistently associated with elevated serum IgE, asthma susceptibility, atopic dermatitis, and food allergy through amplified IL-13 Th2 signaling

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Immune Response, Skin Health, Food Sensitivity, T-Cell Regulation

Interleukin-13(https://pubmed.ncbi.nlm.nih.gov/37794016/) is one of the most consequential mediators of allergic inflammation. At chromosome 5q31.1, a cluster of interrelated variants spans the IL13 gene and nearby regulatory elements, forming a haplotype block that has emerged as one of the strongest and most...

rs1402837 Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell glucose-sensing; the T allele reduces G6PC2 expression and lowers fasting blood glucose

Chromosome 2 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic Health, Metabolic Syndrome, Energy Metabolism, Diet

Inside every pancreatic beta cell, a molecular tug-of-war determines your fasting blood glucose set point. Glucokinase (https://pubmed.ncbi.nlm.nih.gov/19741163/) acts as an accelerator, driving glucose into the glycolytic pathway. G6PC2 acts as the brake — it hydrolyzes G6P back into free glucose, creating a futile...

rs1414273 Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a G-U wobble base pair that enhances Drosha cleavage, increasing miR-548ac while reducing CD58 mRNA — the mechanistic anchor of the CD58 MS-risk haplotype

Chromosome 1 Risk Allele C Category Neurology & Cognition Tags Immune & Gut, Autoimmune, Neuroinflammation, Immune System, Inflammation, Multiple Sclerosis

Every CD58 intronic variant associated with multiple sclerosis risk — rs2300747, rs12044852, rs1016140, rs1335532 — sits within the same tightly linked haplotype block in the first intron of CD58 on chromosome 1. Among them, rs1414273 holds a mechanistically unique...

rs1544410 Vitamin D receptor — affects how well vitamin D activates cellular processes

Chromosome 12 Risk Allele T Category Methylation & Detox Tags B Vitamins, Methylation, Diet, Mineral Metabolism, Vitamin D, Bone Health

The vitamin D receptor (VDR) is a nuclear receptor | A nuclear receptor is a protein that binds hormones or vitamins inside the cell and directly regulates gene expression that mediates the biological effects of vitamin D throughout your body. When active vitamin D (calcitriol) | Calcitriol (1,25-dihydroxyvitamin D)...

rs17300539 Promoter variant affecting adiponectin secretion and metabolic syndrome risk

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

Adiponectin is your body's master metabolic regulator(https://www.ncbi.nlm.nih.gov/books/NBK537041/), and the ADIPOQ gene controls how much of it you produce. The rs17300539 variant sits in the gene's promoter region — the control switch that determines transcription...

rs1799883 Intestinal fat absorption - affects how efficiently you absorb dietary fat

Chromosome 4 Risk Allele T Category Triglycerides & Fatty Acids Tags Fat Metabolism, Diet, Insulin

FABP2 (Fatty Acid Binding Protein 2) is expressed in intestinal cells and is responsible for intracellular transport of dietary fatty acids| Inside enterocytes (intestinal absorptive cells), FABP2 shuttles fatty acids from the cell membrane to the endoplasmic reticulum for processing. The Mechanism The Ala54Thr...

rs1800462 The original TPMT deficiency allele — a no-function star allele causing ~100-fold loss of thiopurine methylation activity through accelerated proteolysis; independent of the TPMT*3 cluster and found almost exclusively in people of European ancestry

Chromosome 6 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Immunosuppressants, Blood Thinners, Pharmacogenomics

TPMT (thiopurine S-methyltransferase) is the enzyme that inactivates thiopurine drugs(https://pubmed.ncbi.nlm.nih.gov/30447069/) by methylating them to inert metabolites. When TPMT activity is reduced or absent, these drugs are diverted into a pathway that generates highly toxic thioguanine nucleotides, which...