Research — GeneOps

rs2040704 Intronic variant in the RAD50/TH2LCRR region at 5q31.1 that tags an enhancer hub coordinating IL-4, IL-5, and IL-13 expression; the G allele is associated with elevated serum IgE and increased susceptibility to the atopic march (eczema → food allergy → asthma → allergic rhinitis) through amplified Th2 cytokine output

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, Autoimmune, Inflammation, Immune Response, Skin Health, Lung Health

At position 5q31.1, squeezed between the DNA-repair gene RAD50(https://www.ncbi.nlm.nih.gov/gene/10111) and the cytokine gene IL13(https://www.ncbi.nlm.nih.gov/gene/3596), sits one of the most replicated immune-regulation loci in the human genome. GWAS studies have repeatedly flagged this region — designated 5q31...

rs2073067 Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with altered one-carbon metabolism and Alzheimer's disease risk

Chromosome 6 Risk Allele G Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Homocysteine, Cardiovascular

Most people have heard of MTHFR, but the folate cycle runs on two tracks: the cytoplasmic pathway (where MTHFR operates) and the mitochondrial pathway, where MTHFD1L | Methylenetetrahydrofolate dehydrogenase 1-like; the mitochondrial counterpart to the cytoplasmic MTHFD1 enzyme does the foundational work. MTHFD1L...

rs242557 Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, independently elevating risk for progressive supranuclear palsy and corticobasal degeneration through increased 4-repeat tau expression

Chromosome 17 Risk Allele A Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Dementia, Tau Pathology, Brain Health, Aging

Within the H1 haplotype of the MAPT gene — itself a well-established risk factor for neurodegenerative diseases involving tau protein — there exists a finer level of genetic variation. The rs242557 variant tags the H1c sub-haplotype, a distinct subset of H1 that carries substantially elevated risk for progressive...

rs28371759 Rare missense variant causing a Leu293Arg substitution in CYP3A4, associated with reduced enzyme activity and altered metabolism of tacrolimus, warfarin, and other CYP3A4 substrates; most frequent in East Asian populations

Chromosome 7 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Immunosuppressants, Transplant, Drug Response

CYP3A4 is the single most consequential drug-metabolizing enzyme in the human body, responsible for the biotransformation of approximately 50% of all prescription medications(https://pubmed.ncbi.nlm.nih.gov/24381495/). Found primarily in the liver and small intestine, CYP3A4 processes everything from...

rs2943641 Regulates insulin signaling efficiency and cellular glucose uptake

Chromosome 2 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Cardiovascular, Diet, Vitamin D, Metabolic, Obesity, Cholesterol, Triglycerides

Your IRS1 (Insulin Receptor Substrate 1) gene encodes the first protein activated when insulin binds to its receptor on cell surfaces. Think of it as the ignition switch for your entire insulin signaling system| IRS1 is phosphorylated by the insulin receptor and then activates downstream pathways like PI3K/AKT that...

rs35833281 Intronic variant in the orexin/hypocretin receptor 2 gene that tags the HCRTR2 chronotype locus; the C allele is associated with a modest shift toward morning preference

Chromosome 6 Risk Allele C Category Hormones & Sleep Tags Sleep, Circadian, Chronotype, Hormones, Arousal, Brain Health

The orexin system is the brain's primary arousal engine. Two neuropeptides — orexin A and orexin B (also called hypocretin-1 and hypocretin-2) — are produced in a small cluster of neurons in the lateral hypothalamus and project widely across the brain. They act on two receptors: HCRTR1 (orexin receptor 1), which...

rs3829462 Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (Phe356) is the GRCh38 reference but represents the minority allele globally, while the common A allele (Leu356) is found in ~97% of people and classified benign

Chromosome 15 Risk Allele C Category Triglycerides & Fatty Acids Tags Fat Metabolism, Cholesterol, Cardiovascular, Triglycerides

Hepatic lipase (HL), encoded by the LIPC gene on chromosome 15, is a key enzyme in lipoprotein metabolism. It sits on liver sinusoid endothelium and acts as a lipase and ligand for lipoprotein uptake — hydrolyzing triglycerides and phospholipids in HDL and intermediate-density lipoproteins (IDL). Its best-known role...

rs4684847 Intronic cis-regulatory PPARG variant where the C allele recruits PR domain repressor proteins, reducing PPARG transcription in adipose tissue and impairing adipocyte differentiation, fat distribution, and insulin sensitivity

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Adipogenesis, Fat Distribution, Insulin Resistance, Metabolic Health, Cardiovascular, Obesity

PPARγ(https://pubmed.ncbi.nlm.nih.gov/12663460/) controls whether pre-adipocytes mature into functional fat cells, how fat distributes between visceral and subcutaneous depots, and how sensitively peripheral tissues respond to insulin. The gene sits on chromosome 3p25 and is subject to tight transcriptional control...

rs6198 3'UTR variant that increases glucocorticoid-resistant GRβ isoform expression, blunting cortisol signaling and HPA axis negative feedback

Chromosome 5 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, HPA Axis, Stress Response, Cardiovascular, Mental Health

The glucocorticoid receptor (GR) encoded by NR3C1 is not a single protein but a family of isoforms generated by alternative splicing and translation initiation. The dominant active form, GRα, binds cortisol and drives the transcriptional programs that regulate inflammation, metabolism, immune function, and stress...

rs7501331 Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele, contributing to "poor converter" status for plant-based vitamin A

Chromosome 16 Risk Allele T Category Vitamins & Nutrient Absorption Tags Vitamin A, Beta-Carotene, Diet, Eye Health

The BCO1 gene (formerly called BCMO1) encodes beta-carotene 15,15'-monooxygenase(), the key enzyme responsible for converting beta-carotene from plant foods into retinol -- the form of vitamin A your body actually uses. This single enzymatic step is the only route by which dietary carotenoids from carrots, sweet...