Research — GeneOps

rs12551256 Intronic IL33 variant where the G allele is negatively associated with asthma (OR 0.71) in a Brazilian mixed-ancestry cohort; the G allele may dampen IL-33 alarmin output from damaged airway epithelium, reducing ILC2 and mast cell activation and blunting type 2 airway inflammation

Chromosome 9 Risk Allele A Category Allergy & Atopic Disease Tags Asthma, Innate Immunity, Inflammation, Lung Health, Immune Response, Respiratory Infections

Interleukin-33(https://pubmed.ncbi.nlm.nih.gov/34928757/) sits at the very top of the type 2 inflammatory cascade that drives asthma, allergic rhinitis, and atopic sensitization. The IL33 gene on chromosome 9p24.1 is one of the most replicated asthma susceptibility loci in human genetics, and variants at this locus...

rs12598836 Intronic variant near heme oxygenase 2 (HMOX2) associated with migraine-with-aura susceptibility; the G allele (GRCh38 reference) tags a regulatory effect on constitutive CO production in cerebral vessels, modulating cerebrovascular reactivity relevant to aura pathophysiology

Chromosome 16 Risk Allele G Category Neurology & Cognition Tags Migraine, Brain Health, Nitric Oxide, Oxidative Stress, Cardiovascular, Pain Sensitivity, Cerebrovascular

Heme oxygenase 2 (HMOX2) is the constitutive enzyme responsible for breaking down free heme in the brain. Unlike its inducible sibling HMOX1, HMOX2 is always switched on — particularly in cerebral blood vessels, neurons, and astrocytes — producing three products at baseline:...

rs13412852 Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation and MASLD risk; the T allele interacts with sedentary behavior to substantially amplify adult fatty liver risk, while being protective against fibrosis in children

Chromosome 2 Risk Allele T Category Fat Storage & Energy Tags Fat Metabolism, Liver Health, Energy Metabolism, Metabolic, Lifestyle, Inflammation

LPIN1 encodes lipin-1, a dual-function protein at the heart of lipid metabolism. In the cytoplasm, lipin-1 acts as a phosphatidic acid phosphohydrolase(https://pmc.ncbi.nlm.nih.gov/articles/PMC2674718/). In the nucleus, lipin-1 switches roles entirely: it acts as a transcriptional co-activator of PGC-1α and PPARα,...

rs16947 Common CYP2D6 variant defining the *2 allele; previously considered normal-function but recent evidence shows reduced expression through altered splicing

Chromosome 22 Risk Allele A Category Pharmacogenomics Tags Pharmacogenomics, Drug Metabolism, Antidepressants, Pain Medication

CYP2D6 is the enzyme behind the metabolism of roughly 25% of all prescription drugs — from antidepressants to pain medications to cancer drugs. The 2 allele, defined by the rs16947 variant (a C-to-T change causing an Arg296Cys amino acid substitution(https://www.ncbi.nlm.nih.gov/snp/rs16947)), is one of the most...

rs174572 Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing the first rate-limiting step in converting dietary LA to GLA (omega-6) and ALA to stearidonic acid (omega-3), resulting in lower circulating EPA levels in T allele carriers

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Tags Omega-3, Fat Metabolism, Micronutrients, Cardiovascular, Diet

Before your body can build the long-chain omega-3s and omega-6s it needs for every cell membrane, every eicosanoid signal, and every synapse, it must pass dietary fatty acids through a molecular gateway: delta-6 desaturase(https://pubmed.ncbi.nlm.nih.gov/19148276/). rs174572, an intronic variant in FADS2, alters how...

rs17679445 Missense variant in pyridoxamine 5'-phosphate oxidase that reduces the enzyme's efficiency at converting dietary vitamin B6 into active PLP, the essential cofactor for GABA, serotonin, melatonin, and dopamine synthesis; associated with insomnia risk in large GWAS

Chromosome 17 Risk Allele A Category Hormones & Sleep Tags Sleep, Neurotransmitters, B Vitamins, Melatonin, Serotonin, Hormones

Every neurotransmitter that regulates sleep — serotonin, melatonin, GABA, and dopamine — depends on the same molecular key: pyridoxal 5'-phosphate (PLP), the active form of vitamin B6. Dietary vitamin B6 (pyridoxine or pyridoxamine from food and most supplements) is not active on its own. Before your brain can use...

rs1800206 Missense variant in PPARA that reduces receptor transcriptional activity, elevating LDL and triglycerides — particularly with low dietary PUFA intake — and blunting the lipid-improving response to omega-3 fatty acids and aerobic exercise

Chromosome 22 Risk Allele G Category Fitness & Body Tags Fat Metabolism, Cardiovascular, Omega-3, Triglycerides, Cholesterol, Diet

PPARα() is one of the most important lipid-sensing proteins in the human body. It responds to dietary fats, exercise, and fasting by switching on a gene expression program that burns fat for energy and clears lipids from the bloodstream. The Leu162Val missense variant (rs1800206) substitutes valine for leucine at...

rs1800775 CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, raising HDL cholesterol by ~3–6 mg/dL in A allele carriers

Chromosome 16 Risk Allele C Category Cholesterol & Lipoproteins Tags HDL Cholesterol, Cholesterol, Fat Metabolism, Cardiovascular, Lipid Metabolism

Every day your liver makes a protein called CETP(https://pubmed.ncbi.nlm.nih.gov/10669650/). The more CETP your liver produces, the lower your HDL cholesterol tends to be. A single nucleotide change in the CETP gene's promoter region — 629 bases upstream of the transcription start site — determines how much CETP...

rs1800872 Promoter variant affecting IL-10 production — a key anti-inflammatory cytokine regulating inflammation and cardiovascular risk

Chromosome 1 Risk Allele T Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Immune & Autoimmune, Diabetes, Metabolic Syndrome, Stress, Diet, Lifestyle

Interleukin-10 (IL-10) is the body's master anti-inflammatory cytokine(https://pubmed.ncbi.nlm.nih.gov/28799796/), acting as a critical brake on immune responses to prevent excessive inflammation. The IL10 gene on chromosome 1(https://www.ncbi.nlm.nih.gov/snp/rs1800872) encodes this regulatory cytokine. The -592 CA...

rs1937 Missense variant in the TFAM mitochondrial targeting sequence — the C allele (Thr12) is associated with longevity and reduced Alzheimer's disease risk via preserved mitochondrial DNA maintenance

Chromosome 10 Risk Allele G Category Longevity & Aging Tags Mitochondria, Longevity, Aging, Oxidative Stress, Alzheimer's, Neurodegeneration

Deep inside every cell, mitochondria must replicate their own small genome — a 16,569 base pair circle of DNA encoding 13 essential proteins of the electron transport chain. This task falls to TFAM (Transcription Factor A, Mitochondrial), a compact protein that wraps around mitochondrial DNA, initiates its...