Research — GeneOps

rs78707713 Intronic TSPAN15 variant that modulates ADAM10-mediated shedding of GPVI, the major platelet collagen receptor; the C allele is associated with a 31% increased risk of venous thromboembolism and has pharmacogenomic relevance for emerging anti-GPVI therapies

Chromosome 10 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Blood Clotting, Cardiovascular, Thrombosis, Thrombophilia, Pharmacogenomics

When a blood vessel tears, platelets(https://pubmed.ncbi.nlm.nih.gov/35269584/) rush to seal the breach. Their primary sensor for collagen — the structural protein exposed in damaged vessel walls — is a receptor called GPVI (glycoprotein VI). Without GPVI, platelets cannot recognize and grip collagen, and the...

rs8192870 Intronic variant in the rate-limiting bile acid synthesis gene; T allele carriers show reduced LDL-lowering response to statins and elevated cardiovascular risk.

Chromosome 8 Risk Allele T Category Cholesterol & Lipoproteins Tags Cholesterol, Lipid Metabolism, Statins, Cardiovascular, Liver Health, LDL Cholesterol

Your liver disposes of excess cholesterol by converting it into bile acids — detergent-like molecules that emulsify fat in the gut and are then recycled through the enterohepatic circulation. The enzyme that controls the entry point of this pathway, cholesterol 7α-hydroxylase (CYP7A1), is the rate-limiting step....

rs956572 Intronic variant in the anti-apoptotic gene BCL2 that affects BCL2 expression levels, intracellular calcium homeostasis, and rate of age-related gray matter loss in key brain regions

Chromosome 18 Risk Allele A Category Mood & Behavior Tags Brain Health, Mental Health, Neuroprotection, Mood, Calcium, Apoptosis, Neuroplasticity

Every neuron in your brain is engaged in a constant molecular negotiation between survival and self-destruction. The BCL2 gene — officially BCL2 Apoptosis Regulator — is one of the most important referees of that negotiation. Originally discovered at a chromosomal translocation breakpoint in follicular lymphoma in...

rs9939609 The most strongly replicated obesity-associated variant, affecting body weight through reduced adipocyte thermogenesis

Chromosome 16 Risk Allele A Category Appetite & Obesity Tags Obesity, Metabolic, Diabetes, Diet, Exercise, Appetite, Cardiovascular

In 2007, two genome-wide association studies(https://pubmed.ncbi.nlm.nih.gov/17434869/) simultaneously discovered that common variants in the first intron of the FTO (fat mass and obesity-associated) gene were powerfully associated with body mass index and obesity risk. Among the dozens of obesity-associated loci...

rs1950897 Intronic variant in RAD51B on chromosome 14; the T allele is associated with increased rheumatoid arthritis risk (OR ~1.10 per allele) in trans-ethnic GWAS, likely through effects on lymphocyte genomic stability and immune cell development mediated by RAD51B's role in homologous recombination DNA repair

Chromosome 14 Risk Allele T Category Allergy & Atopic Disease Tags Rheumatoid Arthritis, Autoimmune, Inflammation, DNA Repair, Double-Strand Break Repair, Immune & Autoimmune

Deep within the bone marrow and lymph nodes, B and T lymphocytes undergo one of the most DNA-intensive processes in biology: V(D)J recombination(https://www.ncbi.nlm.nih.gov/books/NBK10070/) and somatic hypermutation. These processes require the cell's DNA repair machinery to work flawlessly — and that is exactly...

rs2052129 Histamine breakdown in gut - reduced activity means dietary histamine accumulates

Chromosome 7 Risk Allele T Category Methylation & Detox Tags Histamine, Food Sensitivity, Detoxification

Diamine oxidase | DAO is a copper-containing amine oxidase that specifically degrades histamine by oxidizing it into imidazole acetaldehyde (DAO), encoded by the AOC1 gene on chromosome 7, is the primary enzyme responsible for breaking down histamine in your digestive tract. Every time you eat aged cheese, drink...

rs2300747 Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg function; the protective G allele raises CD58 expression and reduces multiple sclerosis risk

Chromosome 1 Risk Allele A Category Neurology & Cognition Tags Immune & Gut, Autoimmune, Neuroinflammation, Immune System, Inflammation, Multiple Sclerosis, T-Cell Regulation

CD58, also known as LFA-3 (Lymphocyte Function-Associated Antigen 3)(https://pubmed.ncbi.nlm.nih.gov/19237575/), plays a pivotal role in the immune synapse. By binding CD2 on T cells(https://pubmed.ncbi.nlm.nih.gov/19237575/), it stabilises the interaction between T cells and antigen-presenting cells, transmits...

rs2758151 Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — the major T allele is associated with salt-sensitive blood pressure, higher systolic BP on high-sodium diets, and attenuated plasma renin activity suppression on low-sodium diets; the minor C allele provides partial protection from salt-driven blood pressure excursions.

Chromosome 6 Risk Allele T Category Blood Sugar & Diabetes Tags Salt Sensitivity, Blood Pressure, Hypertension, Insulin, Diabetes, Kidney

SGK1 (serum/glucocorticoid regulated kinase 1) is a molecular relay station between your stress hormones and your kidneys. When cortisol or aldosterone rise — during physical stress, illness, or a salt-heavy meal — SGK1 becomes active and tells the kidneys to hold on to sodium, pulling more water with it and raising...

rs28371725 Intronic splice variant causing decreased CYP2D6 enzyme activity through aberrant splicing

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

The CYP2D6 enzyme metabolizes approximately 25% of all prescribed drugs, including pain medications, antidepressants, antipsychotics, and some cardiovascular drugs. CYP2D6 is involved in the metabolism of a wide range of medications including drugs for pain management, cancer, mental health disorders, some...

rs34903499 Synonymous coding variant in the VIP gene (Asn133Asn); the T allele may alter mRNA folding and VIP expression efficiency, with potential downstream effects on circadian SCN synchrony, neuroimmune modulation, and gut motility

Chromosome 6 Risk Allele T Category Hormones & Sleep Tags Circadian, Chronotype, Sleep, Hormones, Brain Health, Immune Function

Vasoactive intestinal peptide (VIP) is a 28-amino-acid neuropeptide produced by a prepropeptide precursor(https://www.ncbi.nlm.nih.gov/gene/7432) and released primarily by a subset of neurons in the suprachiasmatic nucleus (SCN)(https://pubmed.ncbi.nlm.nih.gov/17947479/). rs34903499 is a coding variant in the VIP...