Research — GeneOps

rs1800896 Promoter variant affecting IL-10 production — the master anti-inflammatory cytokine that regulates immune response

Chromosome 1 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Inflammation, Autoimmune, Cardiovascular

Interleukin-10 (IL-10) is the body's master anti-inflammatory cytokine, acting as a brake on immune responses to prevent excessive inflammation. The IL10 gene on chromosome 1(https://pubmed.ncbi.nlm.nih.gov/34290697/) produces this critical regulatory protein. The -1082 AG polymorphism (rs1800896) sits in the...

rs1801155 Missense variant in the APC tumor suppressor that creates a hypermutable poly-A tract, increasing somatic mutation rate and colorectal cancer risk approximately 1.5-2 fold — strongly enriched in Ashkenazi Jewish populations (~6% carrier frequency)

Chromosome 5 Risk Allele A Category Cancer Risk Tags Cancer Risk, Tumor Suppressor, Colorectal Cancer, Cancer Screening, Ancestry

The APC gene encodes a massive tumor suppressor protein that acts as a gatekeeper of intestinal epithelial cell proliferation(https://www.ncbi.nlm.nih.gov/books/NBK1345/). Loss of APC function is the initiating event in most colorectal cancers — both inherited and sporadic. The I1307K variant does not directly...

rs1801274 Missense variant in Fc gamma receptor IIa that substitutes histidine (H131, high-affinity) for arginine (R131, low-affinity) at the IgG2-binding site, altering immune complex clearance efficiency and modulating risk for lupus nephritis, Kawasaki disease, and biologic therapy response

Chromosome 1 Risk Allele G Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, Lupus, Rheumatoid Arthritis, Immune Response, Inflammation, Innate Immunity

Every IgG antibody your immune system makes eventually gets processed through a receptor. Fc gamma receptor IIa (FcγRIIa), encoded by FCGR2A, is the principal receptor on neutrophils and macrophages for IgG2 — the subclass that handles responses to polysaccharide antigens, bacterial capsules, and immune complexes....

rs186021206 Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ASGR1 del12 loss-of-function variant (r²=0.86) and associates with ~13 mg/dL lower non-HDL cholesterol and a 34% reduced risk of coronary artery disease

Chromosome 17 Risk Allele A Category Atherogenic Lipoproteins Tags Cardiovascular, Heart Disease, LDL Cholesterol, Cholesterol, Atherosclerosis, Liver

Most people have never heard of the asialoglycoprotein receptor, but a rare natural experiment in human genetics has made it one of cardiology's most watched drug targets. The ASGR1 gene(https://pubmed.ncbi.nlm.nih.gov/27192541/) sits on chromosome 17. Scattered among the population are individuals who carry a rare...

rs2147349 Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age at natural menopause in the large-scale Ruth et al. 2021 GWAS; XPO4 encodes a nuclear export receptor required for cytoplasmic delivery of ribosomal subunits and regulatory factors, a process critical for oocyte translational competence and mitochondrial ribosome maintenance

Chromosome 13 Risk Allele G Category Gamete Quality & DNA Repair Tags Ovarian Reserve, Menopause, Fertility, DNA Repair, Mitochondria, Reproductive Health

Oocytes are extraordinary cells. Each contains roughly 100,000 mitochondria — more than any other cell type in the human body — because mitochondria provide the vast energy reserves needed to sustain the decades-long meiotic pause and then power fertilization and early embryogenesis. Maintaining this mitochondrial...

rs2228603 Missense variant in neurocan associated with hepatic steatosis, liver inflammation and fibrosis progression, and altered lipid metabolism in the context of NAFLD.

Chromosome 19 Risk Allele T Category Liver Fat Tags Fat Metabolism, Cardiovascular, Cholesterol, Liver, Diet

Neurocan (NCAN)(https://www.ncbi.nlm.nih.gov/gene/1463) is one of the surprises of liver genetics. A variant at the 19p13.11 locus was identified in a genome-wide scan not because of NCAN's neural role, but because of unexpected expression in human liver tissue — expression that appears to influence how the liver...

rs225011 Intronic DIO2 variant nominally associated with Graves' disease susceptibility and early-onset type 2 diabetes; may influence DIO2 expression in a gene carrying the key T4-to-T3 conversion enzyme

Chromosome 14 Risk Allele C Category Vitamin D Metabolism Tags Thyroid, Hormones & Thyroid, Autoimmune, Micronutrients, Metabolism

DIO2 encodes type 2 iodothyronine deiodinase(https://pubmed.ncbi.nlm.nih.gov/30063552/), the primary enzyme responsible for converting the thyroid prohormone T4 into the active T3 in peripheral tissues. DIO2 is especially important in the brain, pituitary, skeletal muscle, and brown adipose tissue, where up to 80%...

rs2274327 Reduces salivary carbonic anhydrase VI (gustin) secretion, impairing oral acid buffering and increasing susceptibility to dental caries

Chromosome 1 Risk Allele T Category Dental & Oral Health Tags Dental & Oral Health, Zinc, Microbiome, Inflammation, Diet

Every time you eat fermentable carbohydrates, bacteria in dental plaque produce lactic acid that drops plaque pH below the critical threshold for tooth enamel dissolution (around pH 5.5). The difference between a person who rarely gets cavities and one who consistently does often comes down to how quickly that acid...

rs28937317 Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 causing Long QT syndrome type 3 through persistent late sodium current and prolonged ventricular repolarization

Chromosome 3 Risk Allele C Category Arrhythmia & Heart Rhythm Tags Arrhythmia, Cardiovascular, Heart Disease, Genetic Counseling, Pharmacogenomics

Every heartbeat begins with a precisely timed electrical impulse. Millions of sodium channels along heart muscle membranes snap open, flood the cell with sodium ions, and trigger the rapid depolarization that generates a contraction. Then — just as critically — they close. The cardiac sodium channel...

rs104894011 Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting hyperglycemia that typically requires no pharmacologic treatment

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic Health, Genetic Counseling, Carrier Status

Glucokinase (GCK) is the enzyme that tells your pancreatic beta cells how much glucose is in the bloodstream. Think of it as a thermostat: it sets the glucose threshold at which insulin secretion begins. Normally, beta cells start releasing insulin when blood glucose rises above about 5.0 mmol/L (90 mg/dL). When...