Research — GeneOps

rs73015965 Missense variant in plasminogen that reduces fibrinolytic activity and impairs fibrin clearance from mucosal surfaces, causing ligneous (woody) pseudomembrane formation and dramatically increasing risk for chronic otitis media and other mucous membrane inflammation

Chromosome 6 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Infection Risk, Fibrinolysis, Blood Clotting, Hearing Loss, Carrier Status, Thrombophilia

Plasminogen is the body's master clot-dissolving precursor. Secreted by the liver and distributed throughout the bloodstream and mucosal tissues, it is activated to plasmin(https://pubmed.ncbi.nlm.nih.gov/16849641/) wherever the body needs to remodel or repair tissue. In the middle ear, this fibrinolytic activity is...

rs7412 APOE E2 variant - generally protective for cardiovascular health

Chromosome 19 Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Alzheimer's

This variant, together with rs429358, determines your APOE genotype. The rs7412 variant causes a missense change at position 176 of the APOE protein, substituting arginine with cysteine (p.Arg176Cys). This defines the APOE ε2 isoform. The Mechanism The E2 isoform has reduced affinity for the LDL receptor compared to...

rs74315379 Rare pathogenic missense variant in cardiac troponin T causing calcium desensitization and autosomal dominant dilated cardiomyopathy and left ventricular noncompaction

Chromosome 1 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Arrhythmia, Fibrosis

Every heartbeat is a precisely timed surge of calcium flooding the cardiac muscle cell, binding to troponin C, and pulling troponin T(https://pubmed.ncbi.nlm.nih.gov/14654368/) into a conformation that lets the myosin motors fire. When calcium retreats, troponin T reverts, the motors disengage, and the heart...

rs767603 Regulatory variant near LOC105378189 non-coding RNA locus on chromosome 14q23; the T allele is associated with increased susceptibility to intracranial berry aneurysm through putative regulatory effects on vascular wall integrity genes

Chromosome 14 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cerebrovascular, Cardiovascular, Endothelial Health, Inflammation, Angiogenesis, Genetic Counseling

Intracranial aneurysms — balloon-like dilations of cerebral arteries(https://pubmed.ncbi.nlm.nih.gov/9445359/) — affect roughly 3% of the general population. Most remain silent throughout a person's lifetime, but rupture causes a sudden and devastating subarachnoid hemorrhage with mortality exceeding 40% and...

rs9298506 Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intracranial aneurysm susceptibility in European and East Asian populations; A allele confers elevated risk through putative effects on SOX17 endothelial transcription factor expression

Chromosome 8 Risk Allele A Category Vascular Inflammation & Remodeling Tags Cerebrovascular, Cardiovascular, Endothelial Health, Angiogenesis, Inflammation, Genetic Counseling

SOX17 is not a structural gene — it is a master regulator. SOX17(https://pubmed.ncbi.nlm.nih.gov/18997786/) encodes a transcription factor that directly controls the genetic programs that make endothelial cells — the cells lining every blood vessel in the body — what they are. When SOX17 expression is altered, the...

rs9556979 Regulatory variant near STK24 (MST3), a kinase essential for hippocampal neurogenesis and neuronal migration — the G allele is associated with disrupted HPA axis stress reactivity and anxiety-like phenotypes

Chromosome 13 Risk Allele G Category Mood & Behavior Tags Anxiety, HPA Axis, Stress Response, Neuroplasticity, Mood, Cortisol

Your brain's response to stress depends on a continuous supply of new neurons in the hippocampus — a process called adult hippocampal neurogenesis. This region serves double duty: it encodes memory and, critically, it provides inhibitory control over the HPA axis(https://pubmed.ncbi.nlm.nih.gov/40281197/). The gene...

rs987237 Adipocyte transcription factor variant influencing central fat distribution and modifying weight-loss response to dietary fat

Chromosome 6 Risk Allele G Category Appetite & Obesity Tags Fat Metabolism, Diet, Obesity, Cardiovascular

TFAP2B (Transcription Factor AP-2 Beta) encodes a transcription factor expressed preferentially in adipose tissue(). Unlike variants that affect how much you eat (appetite genes), TFAP2B influences how your body distributes and stores fat — particularly around the waist. The rs987237 variant was among the first...

rs1898671 Intronic TSLP variant that modulates thymic stromal lymphopoietin activity, with T allele carriers showing milder, less persistent atopic dermatitis and reduced need for immunosuppressive treatment

Chromosome 5 Risk Allele C Category Allergy & Atopic Disease Tags Autoimmune, Inflammation, Asthma, Skin Health, Immune Function

Atopic dermatitis affects up to 20% of children and persists into adulthood in roughly a third of cases. What determines whether a child's eczema resolves within a few years or becomes a lifelong burden? Part of the answer lies in a single intronic variant in the TSLP gene on chromosome 5. The rs1898671 T allele is...

rs202720 Intronic variant in the intestinal folate-cleaving enzyme FOLH1 (GCPII); the C allele may reduce dietary folate bioavailability by altering GCPII expression or splicing

Chromosome 11 Risk Allele C Category Methylation & Detox Tags Methylation & Detox, Folate, B Vitamins, Homocysteine, Methylation

Before your body can absorb folate from food, it has to be broken down first. Dietary folate arrives primarily as polyglutamated folate() — folate molecules with long glutamate tails that cannot cross the intestinal wall intact. FOLH1 (also called GCPII, glutamate carboxypeptidase II) is the enzyme anchored to the...

rs2274319 Intronic variant in MEF2D encoding a key neuronal transcription factor that regulates excitatory synapse development and neuronal survival; the C allele is associated with increased migraine susceptibility in the largest migraine GWAS to date (OR=1.075, P=3.0E-41, 102,084 cases) and is thought to subtly alter MEF2D expression in cortical and trigeminal neurons, modulating synaptic excitability thresholds

Chromosome 1 Risk Allele C Category Neurology & Cognition Tags Migraine, Neuroplasticity, Brain Health, Neurotransmitters, Pain Sensitivity, Cognition

Your brain maintains a precise balance between neuronal excitation and inhibition. When that balance shifts toward excess excitation — particularly in the cortex — it can trigger cortical spreading depression(https://pubmed.ncbi.nlm.nih.gov/35115687/). The gene MEF2D sits at a critical control point in this system:...