Research — GeneOps

rs1495965 Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated with increased risk of ankylosing spondylitis, Behçet's disease, and Crohn's disease through IL-23 pathway dysregulation

Chromosome 1 Risk Allele C Category IBD & Mucosal Immunity Tags Autoimmune, Inflammation, Arthritis, IBD, Immune & Autoimmune, T-Cell Regulation

The region between the IL23R(https://www.ncbi.nlm.nih.gov/gene/149233) and IL12RB2 genes on chromosome 1p31.3 has emerged as one of the most replicated non-HLA autoimmune risk loci across three distinct diseases — Behçet's disease, ankylosing spondylitis, and Crohn's disease. rs1495965 is an intergenic variant...

rs1516797 Intronic variant affecting aggrecan expression and cartilage integrity, associated with ACL injury risk and intervertebral disc health

Chromosome 15 Risk Allele G Category Fitness & Body Tags Injury Risk, Cartilage, Joints, Connective Tissue, Longevity

Aggrecan is the workhorse proteoglycan(https://omim.org/entry/155760) of your joints and spine. It's a massive molecule — over 2,500 amino acids with heavily glycosylated side chains that trap water, creating the gel-like matrix that cushions cartilage under load. Every time you sprint, jump, or pivot, aggrecan is...

rs1524107 Intronic IL6 variant tagging a low-producing haplotype — the T allele is protective against inflammaging, diabetic nephropathy, and severe acute inflammation

Chromosome 7 Risk Allele C Category Longevity & Aging Tags Inflammation, Longevity, Aging, Cardiovascular, Alzheimer's

Interleukin-6 (IL-6) is the central cytokine of inflammaging(). Serum IL-6 concentrations rise two- to four-fold between age 20 and 80 in healthy adults, and this rise is not incidental — it predicts cardiovascular events, cognitive decline, muscle loss, frailty, and all-cause mortality better than almost any other...

rs1600482909 Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sarcoplasmic reticulum coupling and impairs calcium-induced calcium release, causing hypertrophic cardiomyopathy

Chromosome 20 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Calcium, Genetic Counseling, Carrier Status, Arrhythmia

Each heartbeat begins with an electrical signal that triggers a precisely timed calcium surge inside cardiomyocytes (heart muscle cells). This surge does not come from outside the cell — it is amplified from within by a process called calcium-induced calcium release(https://pubmed.ncbi.nlm.nih.gov/27760414/), in...

rs17222814 Intronic ALOX5AP variant tagging the HapB risk haplotype; the A allele marks a distinct leukotriene pathway activation pattern independently associated with myocardial infarction and ischemic stroke risk

Chromosome 13 Risk Allele A Category Vascular Inflammation & Remodeling Tags Cardiovascular, Heart Disease, Inflammation, Atherosclerosis, Omega-3

The arachidonate 5-lipoxygenase activating protein (ALOX5AP, also called FLAP — 5-Lipoxygenase Activating Protein) is an indispensable scaffold protein anchored in the nuclear and endoplasmic reticulum membranes of myeloid cells. Without FLAP, the enzyme 5-lipoxygenase cannot bind arachidonic acid efficiently enough...

rs174546 3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, reducing FADS1 desaturase expression by up to 30–60%; the T allele impairs conversion of linoleic acid to arachidonic acid and ALA to EPA, and is independently associated with elevated serum triglycerides.

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

Most genetic variants in the FADS1 gene cluster affect expression through intronic regulatory elements, but rs174546 operates through a distinct mechanism: it sits in the 3' untranslated region(https://pubmed.ncbi.nlm.nih.gov/30170993/) of the FADS1 transcript, where it alters a binding site for the microRNA...

rs17465637 Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smooth muscle cell behavior, with well-replicated association with coronary artery disease risk

Chromosome 1 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Inflammation, Triglycerides, Heart Disease

Deep within the wall of every coronary artery, a molecular crane called TANGO1(https://pmc.ncbi.nlm.nih.gov/articles/PMC3105544/) performs a task that conventional COPII vesicles cannot: loading oversized collagen fibers — rigid triple-helical rods far too large for standard secretory vesicles — onto expanding...

rs1800497 Reduces dopamine D2 receptor density in the striatum, affecting reward processing, reinforcement learning, and addiction susceptibility

Chromosome 11 Risk Allele A Category Mood & Behavior Tags Dopamine, Cognition, Neurotransmitters, Addiction, Brain Health

In 1990, Kenneth Blum and Ernest Noble published a landmark paper in JAMA(https://pubmed.ncbi.nlm.nih.gov/1969501/) linking a genetic marker near the dopamine D2 receptor gene to severe alcoholism. That marker, called TaqIA, became one of the most studied polymorphisms in behavioral genetics. Over three decades...

rs1841499 Hypothalamic appetite regulator variant linking obesity susceptibility to migraine risk via shared neural pathways

Chromosome 1 Risk Allele C Category Appetite & Obesity Tags Obesity, Appetite, Diabetes, Fat Metabolism, Neurotransmitters, Depression

NEGR1 (Neuronal Growth Regulator 1) encodes a cell-adhesion molecule expressed primarily in the hypothalamus, the brain region that acts as the body's central thermostat for hunger, satiety, and energy expenditure. | NEGR1 belongs to the IgLON family of immunoglobulin-domain cell adhesion molecules that regulate...

rs1903068 Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF receptor) on chromosome 4q12; the G allele is associated with increased endometriosis risk and is the lead tagging variant for a locus where disease susceptibility tracks with severity of neovascularization in ectopic lesions

Chromosome 4 Risk Allele G Category Endometriosis & Uterine Health Tags Endometriosis, Angiogenesis, Women's Health, Reproductive Health, Fertility, Inflammation

Endometriosis requires blood. Ectopic lesions — fragments of endometrial-like tissue that implant on the peritoneum, ovaries, and bowel — cannot grow beyond a few millimetres without recruiting their own vascular supply. VEGFR2 (vascular endothelial growth factor receptor 2)(https://www.ncbi.nlm.nih.gov/gene/3791)...