Research — GeneOps

rs73034295 Intronic variant in the gene encoding the inhibitory synaptic adhesion protein IgSF9b, which organizes GABAergic synapses in the centromedial amygdala and modulates anxiety-relevant inhibitory signaling

Chromosome 11 Risk Allele A Category Mood & Behavior Tags Anxiety, Mood, Neurotransmitters, Brain Health, Cognition, Mental Health

Deep in the temporal lobe, within a structure called the centromedial amygdala (CeM()), a protein called IgSF9b quietly organizes the machinery that keeps anxiety in check. This protein, encoded by the IGSF9B gene on chromosome 11, acts as a scaffold at GABAergic inhibitory synapses(), helping to calibrate how...

rs7799039 Promoter variant that increases leptin gene expression in adipose tissue, elevating circulating leptin and raising obesity, insulin resistance, and metabolic syndrome risk

Chromosome 7 Risk Allele A Category Appetite & Obesity Tags Leptin, Satiety, Obesity, Insulin Resistance, Fat Metabolism, Diet, Triglycerides

Leptin is the hormone adipose tissue sends to the hypothalamus to announce that energy stores are adequate — its central function is to suppress appetite and increase energy expenditure when fat stores are full. The G-2548A polymorphism (rs7799039) sits in the promoter region of the LEP gene, 2,548 base pairs...

rs854571 Promoter variant that controls PON1 transcription; the T allele reduces PON1 expression by ~2-fold, lowering the anti-atherogenic enzyme activity on HDL particles and increasing vulnerability to LDL oxidation

Chromosome 7 Risk Allele T Category Vascular Inflammation & Remodeling Tags Cardiovascular, Atherosclerosis, HDL Cholesterol, Oxidative Stress, Cholesterol, Inflammaging

Every HDL particle in your bloodstream carries a small but critical passenger: paraoxonase-1 (PON1), an enzyme that acts as the anti-atherosclerotic arm of your "good cholesterol." PON1 prevents LDL from oxidizing — the first step in plaque formation — and hydrolyzes lipid...

rs1808593 Intronic NOS3 variant associated with ankle-brachial index and peripheral arterial disease risk in hypertensive adults; G allele linked to lower peripheral blood flow

Chromosome 7 Risk Allele G Category Methylation & Detox Tags Cardiovascular, Nitric Oxide, Endothelial Health, Hypertension

Your NOS3 gene encodes endothelial nitric oxide synthase (eNOS), the enzyme that produces nitric oxide (NO)(https://pubmed.ncbi.nlm.nih.gov/17018701/) throughout the vascular system. While the most studied NOS3 variant is the coding Glu298Asp (rs1799983), the gene harbors numerous regulatory and intronic...

rs1837253 Upstream regulatory variant in TSLP reducing cytokine expression; the protective T allele lowers TSLP production 2.5-fold and is associated with reduced risk of asthma and allergic rhinitis

Chromosome 5 Risk Allele C Category Allergy & Atopic Disease Tags Immune & Gut, Asthma, Inflammation, Immune System, Lung Health

Thymic stromal lymphopoietin (TSLP)(https://www.ncbi.nlm.nih.gov/gene/85480) is one of the most important proteins in immunology that most people have never heard of. Made by cells lining the skin, airways, and gut in response to injury or microbial signals, TSLP sits at the very top of the allergic inflammation...

rs208294 Gain-of-function missense variant in the P2X7 ATP-gated receptor that increases receptor expression and ion channel activity, heightening neuroinflammation and linked to mood disorders, pain sensitization, and infection severity

Chromosome 12 Risk Allele T Category Neurology & Cognition Tags Neuroinflammation, Pain Sensitivity, Chronic Pain, Mental Health, Mood, Immune Function

The P2X7 receptor is an ATP-gated ion channel(https://pubmed.ncbi.nlm.nih.gov/24934217/) expressed abundantly on microglia, the brain's resident immune cells. When activated, P2X7 sets off the NLRP3 inflammasome, a molecular alarm system that releases the inflammatory cytokines IL-1β and IL-18. The His155Tyr variant...

rs2237886 Intronic variant in KCNQ1's imprinted region, tagging the same LD block as established East Asian T2D susceptibility variants that impair insulin secretion through altered Kv7.1 potassium channel function in pancreatic beta cells

Chromosome 11 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Insulin Resistance, Energy Metabolism, Metabolic Health, Cardiovascular

In most people's minds, KCNQ1 is a cardiac gene — mutations in it cause the Long QT syndrome type 1(https://omim.org/entry/607542) that strikes young athletes dead on the playing field. But the same Kv7.1 potassium channel is expressed in pancreatic beta cells, where it plays an opposing, subtler role: limiting how...

rs2480256 3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk from acetaminophen, isoniazid, ethanol, and occupational solvents

Chromosome 10 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Liver Health, Alcohol, Environmental Toxins

CYP2E1 (cytochrome P450 2E1) is the liver's chemical-processing workhorse for a surprisingly wide range of exposures: acetaminophen (paracetamol), isoniazid (tuberculosis antibiotic), ethanol at moderate-to-high doses, volatile anesthetics (sevoflurane, isoflurane), and industrial chemicals such as benzene,...

rs28362944 5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, reducing C1-INH expression under immune stress and acting as a severity modifier for complement-mediated inflammatory conditions and sleep disruption

Chromosome 11 Risk Allele C Category Hormones & Sleep Tags Sleep, Complement, Neuroinflammation, Innate Immunity, Inflammation, Hereditary Angioedema, Complement System

Twenty-one nucleotides upstream of the start codon in exon 2 of SERPING1, a single T-to-C change alters how the cell reads the message for C1-inhibitor(https://medlineplus.gov/genetics/gene/serping1/). This variant, rs28362944 (c.-21TC), sits in the 5' untranslated region of the gene — a region that does not change...

rs3211867 Intronic CD36 variant that reduces CD36 expression, impairing postprandial fat sensing and lipid clearance with dose-dependent effects on circulating sCD36 and LDL particle numbers.

Chromosome 7 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, Lipid Metabolism, Cholesterol, Cardiovascular, Diet, Satiety

Before a single drop of dietary fat reaches your bloodstream, your body is already preparing for it. CD36 — the fatty acid translocase — sits on the surface of taste bud cells, intestinal enterocytes, and dozens of other cell types, acting as the primary sensor and gatekeeper for long-chain dietary fats. rs3211867...