Research — GeneOps

rs3733890 Missense variant in betaine-homocysteine methyltransferase that reduces enzyme throughput and influences homocysteine, betaine, and choline metabolite levels

Chromosome 5 Risk Allele A Category Methylation & Detox Tags Methylation, Homocysteine, B Vitamins, Cardiovascular, Diet

Your body has two parallel highways for recycling homocysteine back into methionine. The better-known route depends on folate and B12, governed by MTHFR and MTR. The second — the one BHMT controls — uses betaine as the methyl donor and operates entirely independently of the folate cycle....

rs3745274 Decreased-function variant affecting metabolism of efavirenz, methadone, bupropion, and cyclophosphamide

Chromosome 19 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Antidepressants, Pain Medication, Immunosuppressants

CYP2B6 is a liver enzyme responsible for metabolizing approximately 8% of prescription drugs, including several critical medications for HIV, pain, depression, and cancer. Despite comprising only 1-4% of total hepatic cytochrome P450 content, CYP2B6 is the primary...

rs4753426 Promoter variant in the melatonin receptor 1B gene that alters MTNR1B expression, affecting circadian rhythm, morningness chronotype, and fasting glucose through impaired insulin secretion

Chromosome 11 Risk Allele C Category Hormones & Sleep Tags Sleep, Melatonin, Circadian, Chronotype, Diabetes, Insulin

The MTNR1B gene encodes the melatonin receptor 1B(https://pubmed.ncbi.nlm.nih.gov/19088850/) (MT2), a receptor that links the hormone of darkness to both your sleep-wake cycle and your glucose metabolism. The platform already carries the well-studied rs10830963 — a strong GWAS hit deep within the MTNR1B intron. The...

rs4807015 Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes through increased receptor protein tyrosine phosphatase sigma activity, which dephosphorylates insulin-signalling substrates and attenuates both pancreatic insulin secretion and peripheral insulin sensitivity

Chromosome 19 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin Resistance, Insulin, Pancreatic Beta Cell, Metabolic Syndrome, Metabolic Health

The PTPRS gene encodes receptor protein tyrosine phosphatase sigma (RPTPσ)(https://www.ncbi.nlm.nih.gov/gene/5802), located on chromosome 19p13.3. RPTPσ functions as a negative regulator of tyrosine-kinase-based signalling by removing phosphate groups from tyrosine residues on target proteins. Two of the most...

rs57137919 ABCG1 promoter variant that reduces transporter expression, impairing macrophage cholesterol efflux and increasing macrophage apoptosis — yet paradoxically associated with higher HDL-C, lower LDL-C, and reduced coronary artery disease risk in population studies

Chromosome 21 Risk Allele G Category Triglycerides & Fatty Acids Tags Triglycerides, Cholesterol, Atherosclerosis, Cardiovascular, Macrophage, HDL Cholesterol

Deep inside arterial walls, macrophages perform one of the most critical housekeeping tasks in cardiovascular biology: absorbing excess cholesterol from the surrounding tissue and offloading it to high-density lipoprotein (HDL) particles for return to the liver. This reverse cholesterol transport pathway — the...

rs6981587 Intronic ANK1 variant at the NKX6-3/ANK1 type 2 diabetes locus; the T allele alters ANK1 expression in adipose tissue and skeletal muscle, impairing insulin-stimulated glucose uptake and insulin processing through a non-islet mechanism

Chromosome 8 Risk Allele T Category Fat Storage & Energy Tags Fat Metabolism, Insulin Resistance, Metabolic, Energy Metabolism, Diabetes, Fat Distribution

The ANK1 gene encodes ankyrin-1, a cytoskeletal scaffold protein best known for its structural role in red blood cells, where it links membrane proteins to the spectrin cytoskeleton. A second, muscle-specific transcript produces a short isoform called small ankyrin-1...

rs9470080 Intronic FKBP5 variant in the stress-aging haplotype block — T allele carriers show impaired HPA axis negative feedback, accelerated epigenetic aging, and elevated NF-κB-driven inflammation

Chromosome 6 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, HPA Axis, Stress Response, Inflammation, Cardiovascular

Every time you encounter a stressor, your adrenal glands flood your bloodstream with cortisol(). The cortisol signal is supposed to shut itself off — negative feedback through the HPA axis() keeps the stress response time-limited. FKBP5 is a critical governor of this feedback circuit, and rs9470080 is one of several...

rs2243290 Intronic IL4 variant that forms part of the protective C-G-C haplotype (rs2243250–rs2227284–rs2243290); the C allele is associated with reduced asthma susceptibility, while the A allele tracks with the high-Th2 haplotype and increased atopic disease risk

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Tags Asthma, Immune Response, Immune System, Inflammation, Autoimmune, Immune & Autoimmune

Interleukin-4 (IL-4) is the master switch of the Th2 immune axis — it instructs naive T cells to differentiate into Th2 cells, drives B cells to switch antibody production to IgE, and sustains the eosinophil and mast cell responses that underlie asthma, atopic dermatitis, and allergic rhinitis. The rs2243290...

rs3194051 Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associated with modestly increased multiple sclerosis susceptibility under a recessive model; unlike rs6897932, no functional splicing or expression mechanism has been established

Chromosome 5 Risk Allele G Category Neurology & Cognition Tags Immune & Gut, Multiple Sclerosis, T-Cell Regulation, Autoimmune, Immune & Autoimmune

The IL7R gene(https://pubmed.ncbi.nlm.nih.gov/28446795/) on chromosome 5p13.2 encodes the interleukin-7 receptor alpha chain, an indispensable regulator of T-cell development and homeostasis. The GeneOps database already includes rs6897932 (T244I)(https://pubmed.ncbi.nlm.nih.gov/17660817/), the best-characterized...

rs3758581 Common CYP2C19 missense variant defining the *1B allele; the G (Val331) allele is the population-major normal-function form, while the rare A (Ile331) allele marks loss-of-function haplotype backgrounds

Chromosome 10 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Cardiovascular, Antidepressants, Proton Pump Inhibitors

CYP2C19 is one of the most pharmacogenomically important enzymes in the human body, metabolizing drugs as diverse as the antiplatelet agent clopidogrel, antifungals like voriconazole, proton pump inhibitors (PPIs), and multiple antidepressants. The rs3758581 variant encodes an isoleucine-to-valine substitution at...