Research — GeneOps

rs511278 Intronic FCGR2A variant in linkage disequilibrium with the H131R functional polymorphism (rs1801274), tagging the high-IgG2-affinity receptor allele associated with Kawasaki disease susceptibility, autoimmune risk, and differential response to IgG2-dependent vaccines and infections

Chromosome 1 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Tags Innate Immunity, Autoimmune, Immune Response, Vaccination, Infection Risk, Bacterial Clearance

The Fc gamma receptor IIa (FcγRIIa, encoded by FCGR2A) is the immune system's main sensor for IgG-coated threats. Displayed on the surface of macrophages, neutrophils, and dendritic cells, it binds the tail region (Fc) of IgG antibodies and triggers phagocytosis — the engulfing and destruction of bacteria, viral...

rs5934505 Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FAM9B and FAM9A, associated with serum testosterone levels in men; the C allele is linked to higher testosterone and the T allele (major) to lower testosterone

Chromosome X Risk Allele T Category Reproductive Hormones Tags Testosterone, Reproductive Health, Hormones, Steroid Hormones, Male Fertility, Gonadotropins

The X chromosome contains far fewer genes than autosomes, and its contribution to testosterone biology in men was largely overlooked until large genome-wide association studies began scanning the full genome including sex chromosomes. rs5934505 sits in the Xp22 region in a structural variant-rich zone between two...

rs6058017 3'UTR variant controlling ASIP protein output; G allele reduces ASIP mRNA 12-fold, promoting eumelanin and darker skin, hair, and eye pigmentation

Chromosome 20 Risk Allele A Category Skin & Eyes Tags Pigmentation, Melanoma Risk, Sun Sensitivity, UV Protection, Skin, Hair & Pigmentation

Your skin color is not simply on or off — it is the result of a molecular competition between two opposing signals in every melanocyte. On one side is α-melanocyte stimulating hormone (α-MSH), which binds the melanocortin-1 receptor (MC1R) and drives eumelanin (brown-black pigment) production. On the other side is...

rs662799 Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase activity and raising triglycerides by 15–36%; major determinant of hypertriglyceridemia and dietary fat response

Chromosome 11 Risk Allele G Category Atherogenic Lipoproteins Tags Triglycerides, Fat Metabolism, Cardiovascular, Omega-3, Diet

Apolipoprotein A5 (APOA5) is a liver-secreted protein that acts as a critical regulator of circulating triglyceride levels. Though present in plasma at very low concentrations, APOA5 has an outsized effect on fat clearance(https://pubmed.ncbi.nlm.nih.gov/16448983/) by facilitating the activity of lipoprotein lipase...

rs729302 Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter region that reduces type I interferon output and lowers susceptibility to lupus, rheumatoid arthritis, and related autoimmune conditions

Chromosome 7 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Interferon, Lupus, Autoimmune, Connective Tissue, Inflammation

Interferon Regulatory Factor 5 (IRF5) is a master transcription factor for type I interferon production and proinflammatory cytokine secretion — a molecular switch that, when overactive, drives the chronic immune activation underlying systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, and...

rs7385804 Intronic variant in transferrin receptor 2 that tags altered TFR2 expression and iron-sensing function in hepatocytes, associating with lower transferrin saturation and serum iron in the C-allele direction

Chromosome 7 Risk Allele C Category Iron & Mineral Transport Tags Iron, Hemochromatosis, Liver Health, Micronutrients, Cardiovascular, Vitamins

Transferrin receptor 2 (TFR2) is expressed primarily in the liver, where it acts as a sensor of circulating iron — specifically, iron bound to transferrin (the blood's iron transport protein). Unlike its well-known relative TFR1, which regulates cellular iron uptake across many tissues, TFR2 in hepatocytes functions...

rs780094 Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260326); the T allele increases hepatic glucokinase activity, lowering fasting glucose and insulin while raising triglycerides, CRP, and NAFLD risk — a striking metabolic trade-off driven by excess hepatic de novo lipogenesis

Chromosome 2 Risk Allele T Category Liver Fat Tags Triglycerides, Fat Metabolism, Insulin, Diabetes, Cardiovascular, Diet

Glucokinase regulatory protein (GCKRP, encoded by the GCKR gene) acts as the master brake on hepatic glucokinase, the enzyme that drives the liver's uptake and processing of glucose. When blood glucose rises after a meal, GCKRP normally releases its grip on glucokinase, allowing the liver to process the incoming...

rs12946510 Regulatory variant in a FOXO1-binding enhancer element flanking the IKZF3 gene at 17q21; the C allele maintains FOXO1/MEF2A binding and is associated with elevated ORMDL3, GSDMB, and IKZF3 expression, higher asthma susceptibility, and risk for several autoimmune conditions; the T allele disrupts these binding sites, reducing expression of all three genes and is protective for asthma but associated with increased risk for multiple sclerosis and IBD

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, Innate Immunity, Inflammation, Lung Health, Autoimmune, Immune Response

At chromosome 17q21 sits one of the most consequential regulatory loci in human immunology — a ~130-kb haploblock containing ORMDL3(https://pubmed.ncbi.nlm.nih.gov/30678091/), GSDMB (gasdermin B), IKZF3 (Aiolos), ZPBP2, and GSDMA. Genetic variants across this locus associate with childhood asthma, allergic rhinitis,...

rs1335532 Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele disrupts Drosha cleavage, simultaneously lowering CD58 mRNA and raising miR-548ac levels — the functional mechanism underlying the CD58 locus MS association

Chromosome 1 Risk Allele A Category Neurology & Cognition Tags Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Neuroinflammation, Immune System

CD58 (LFA-3) is a cell-surface adhesion glycoprotein that anchors T-cell co-stimulation and regulatory T-cell (Treg) induction by binding CD2 on T cells. The CD58 intronic locus on chromosome 1q23 has been genome-wide significantly associated with multiple sclerosis (MS) since 2009, and four intronic variants —...

rs13420827 3' UTR variant in the de novo DNA methyltransferase DNMT3A, associated with altered DNMT3A expression, modestly reduced gastric cancer risk in some populations, and interaction effects with folate intake and H. pylori infection on cancer and cardiovascular risk

Chromosome 2 Risk Allele G Category Methylation & Detox Tags Methylation, Methylation & Detox, Epigenetics, Cancer Risk, Folate, B Vitamins

Your DNA sequence is only half the story. The other half is the epigenome — the system of chemical tags that determines which genes get expressed and when. DNMT3A (DNA methyltransferase 3 alpha) is one of the principal enzymes that writes these tags, adding methyl groups(https://pubmed.ncbi.nlm.nih.gov/18381459/) to...