Research — GeneOps

rs1800871 Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflammatory cytokine production capacity

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

Interleukin-10 (IL-10) is the body's master anti-inflammatory cytokine, acting as a potent brake on immune responses. The IL10 gene on chromosome 1(https://pubmed.ncbi.nlm.nih.gov/30430731/) encodes this regulatory cytokine. The -819 CT polymorphism (rs1800871) sits in the promoter region approximately 819 base...

rs1800975 5' UTR variant in the XPA DNA damage recognition gene that modulates nucleotide excision repair capacity, influencing cancer susceptibility and platinum-based chemotherapy response

Chromosome 9 Risk Allele T Category Cancer Risk Tags Cancer Risk, DNA Repair, Pharmacogenomics, Skin Cancer, Lung Cancer

The XPA gene encodes a zinc-finger protein(https://pubmed.ncbi.nlm.nih.gov/32435155/) that serves as the central damage verifier in the nucleotide excision repair (NER) pathway(https://pmc.ncbi.nlm.nih.gov/articles/PMC7139726/). Without functional XPA, the NER complex cannot properly assemble at damage sites —...

rs1801690 Missense variant in APOH (beta-2-glycoprotein I) that disrupts the phospholipid-binding domain, reducing the protein's capacity to act as an autoantigen in antiphospholipid syndrome

Chromosome 17 Risk Allele C Category Atherogenic Lipoproteins Tags Thrombophilia, Thrombosis, Autoimmune, Blood Clotting, Cardiovascular, Blood Thinners

Beta-2-glycoprotein I (β2GPI)(https://pubmed.ncbi.nlm.nih.gov/10602447/) is the primary autoantigen in antiphospholipid syndrome (APS), an acquired autoimmune thrombophilia that is among the most common causes of recurrent venous thromboembolism and pregnancy loss. The variant rs1801690 changes a tryptophan to...

rs199673455 Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygous or compound heterozygous loss causes transient infantile hypertriglyceridemia with hepatomegaly and fatty liver

Chromosome 12 Risk Allele C Category Liver Fat Tags Triglycerides, Lipid Metabolism, Liver Health, Carrier Status, Cardiovascular, Metabolic

Glycerol-3-phosphate dehydrogenase 1 (GPD1) is a cytoplasmic enzyme that sits at a metabolic crossroads: it converts dihydroxyacetone phosphate (DHAP) into glycerol-3-phosphate (G3P), a building block required for triglyceride synthesis. When GPD1 fails, G3P accumulates in hepatocytes, and the liver converts the...

rs2032582 Triallelic missense variant in the P-glycoprotein efflux pump that reduces the transporter's ability to expel xenobiotics — including environmental toxicants such as pesticides, heavy metals, and endocrine disruptors — from gamete-forming cells, potentially increasing DNA damage susceptibility in oocytes and spermatocytes

Chromosome 7 Risk Allele A Category Gamete Quality & DNA Repair Tags Drug Metabolism, Xenobiotics, Detoxification, Pharmacogenomics, Environmental Toxins, Reproductive Health

P-glycoprotein (P-gp), encoded by the ABCB1/MDR1 gene, is one of the most important efflux pumps in human biology. It acts as a molecular bouncer at critical tissue barriers — the gut wall, the blood-brain barrier, the placenta, and the gonads — actively pumping hundreds of structurally unrelated compounds back out...

rs2228570 Vitamin D receptor start codon variant — determines receptor protein length and transcriptional activity

Chromosome 12 Risk Allele A Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Diet, Cardiovascular, Mineral Metabolism

The vitamin D receptor() (VDR) is the master mediator of vitamin D's effects in nearly every tissue — from bones and intestines to immune cells and the brain. The FokI variant (rs2228570) is unique among VDR polymorphisms because it actually changes the protein structure, not just expression levels. A single...

rs2242670 Intronic variant near the KLK4 enamel-maturation protease gene associated with increased dental caries susceptibility in primary and permanent dentition

Chromosome 19 Risk Allele G Category Dental & Oral Health Tags Dental & Oral Health, Enamel Health, Minerals, Calcium

After your teeth are formed, a brief but critical window determines whether your enamel will be hard or soft for life. During this maturation phase, a serine protease called kallikrein-related peptidase 4 (KLK4)(https://pubmed.ncbi.nlm.nih.gov/25071586/) must aggressively clear the remaining organic matrix so that...

rs28634651 Common intronic variant in the FOG1 megakaryocyte transcription factor gene that modulates platelet count and reactivity through altered GATA-1/FOG1 transcriptional output during thrombopoiesis

Chromosome 16 Risk Allele C Category Arrhythmia & Heart Rhythm Tags Thrombophilia, Blood Clotting, Cardiovascular, Thrombosis, Heart Disease

Every platelet in your bloodstream is pinched off from a giant bone-marrow cell called a megakaryocyte(https://pubmed.ncbi.nlm.nih.gov/22068055/). The process that turns a stem cell into a mature platelet-producing megakaryocyte is governed by an intricate transcriptional program, and at its center sits the...

rs104894009 Pathogenic glucokinase missense variant that raises the beta-cell glucose sensing threshold, causing lifelong mild fasting hyperglycemia characteristic of MODY2 — a condition that rarely needs treatment but is frequently misdiagnosed as type 1 or type 2 diabetes

Chromosome 7 Risk Allele G Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic, Energy Metabolism, Genetic Counseling, Women's Health

Buried in every pancreatic beta cell is a molecular glucose meter called glucokinase(https://pubmed.ncbi.nlm.nih.gov/31694991/). Unlike other hexokinases, glucokinase is not inhibited by its product, so its activity rises proportionally with glucose concentration. When blood glucose climbs above roughly 5 mmol/L,...

rs1050891 Histamine breakdown in blood and tissues - uses methyl groups from SAM

Chromosome 2 Risk Allele G Category Methylation & Detox Tags Histamine, Methylation, Detoxification, Neurotransmitters

Histamine N-methyltransferase (HNMT) is the second major enzyme for degrading histamine in your body. While DAO works in the gut to intercept dietary histamine, HNMT operates inside cells throughout your body - particularly in the brain, liver, kidneys, and bronchial epithelium. It is the dominant pathway for...