Research — GeneOps

rs1042522 p53 codon 72 polymorphism producing two functionally distinct proteins — Arg72 with stronger apoptotic activity, Pro72 favoring cell cycle arrest and DNA repair — with population data associating Pro/Pro with ~3 years longer median lifespan

Chromosome 17 Risk Allele C Category Longevity & Aging Tags Longevity, Aging, Cancer Risk, Antioxidants, Mitochondria

p53 is one of the most studied proteins in all of biology, nicknamed the "guardian of the genome" for its central role in deciding a cell's fate after DNA damage. When a cell's DNA is damaged — by UV radiation, chemical carcinogens, replication errors, or oxidative stress — p53 is activated and must make a critical...

rs1042571 3'UTR variant in the appetite-suppression gene POMC that disrupts miRNA binding sites, altering mRNA stability and melanocortin satiety signaling

Chromosome 2 Risk Allele A Category Appetite & Obesity Tags Obesity, Appetite, Diet, Fat Metabolism, Insulin, Neurotransmitters

Deep in the hypothalamus, a molecular brake system governs whether you feel full after eating. At its center is proopiomelanocortin (POMC), a precursor protein(https://medlineplus.gov/genetics/gene/pomc/) with an outsized role in body weight regulation. When POMC neurons in the arcuate nucleus are activated by...

rs10488631 Near-gene regulatory variant tagging an IRF5 haplotype that elevates interferon production and increases risk for lupus, systemic sclerosis, Sjögren syndrome, and seropositive rheumatoid arthritis

Chromosome 7 Risk Allele C Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Interferon, Lupus, Rheumatoid Arthritis, Connective Tissue, Autoimmune

Interferon Regulatory Factor 5 (IRF5) is a master transcription factor that drives type I interferon production and proinflammatory cytokine secretion. When immune cells detect viral or self-nucleic acids through toll-like receptors 7 and 9(https://pubmed.ncbi.nlm.nih.gov/17412832/), IRF5 translocates to the nucleus...

rs104893665 Pathogenic missense variant in sepiapterin reductase that abolishes BH4 biosynthesis, causing dopamine and serotonin deficiency in the brain; homozygosity or compound heterozygosity causes DOPA-responsive dystonia (SPR deficiency, OMIM

Chromosome 2 Risk Allele G Category Vitamins & Nutrient Absorption Tags Neurotransmitters, Dopamine, Serotonin, Carrier Status, Neurological Risk, Micronutrients

The arginine at position 150 in sepiapterin reductase sits in the heart of the enzyme's active site, within a beta-strand that is conserved across all vertebrates. The Arg150Gly substitution — the only single-nucleotide change possible at c.448 of NM003124.5 that creates a glycine — replaces a large, positively...

rs104894135 Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxylase/17,20-lyase activity; homozygotes develop 17α-hydroxylase deficiency (hypertension, hypokalemia, and sexual infantilism), while heterozygous carriers show subclinical enzyme reduction detectable by ACTH stimulation testing.

Chromosome 10 Risk Allele G Category Reproductive Hormones Tags Steroid Hormones, Steroid Metabolism, Hypertension, Reproductive Health, Carrier Status, Congenital

At the crossroads of cortisol synthesis and sex steroid production sits a single enzyme, CYP17A1 — cytochrome P450 17α-hydroxylase/17,20-lyase(https://pubmed.ncbi.nlm.nih.gov/26862015/). The rs104894135 variant (c.316TC, p.Ser106Pro) is a rare but well-documented pathogenic missense change that abolishes CYP17A1...

rs104894369 Pathogenic missense variant in the cardiac regulatory myosin light chain causing early-onset severe hypertrophic cardiomyopathy with high risk of sudden cardiac death

Chromosome 12 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Arrhythmia, Muscle, Congenital

Every heartbeat depends on a finely tuned partnership between motor proteins and the regulatory machinery that controls them. One of those regulators is the ventricular regulatory myosin light chain(https://pubmed.ncbi.nlm.nih.gov/9535554/), encoded by MYL2. The Arg58Gln substitution — replacing a positively charged...

rs104895431 Rare NOD2 missense variant (Ser431Leu) that reduces NF-κB activation in response to bacterial muramyl dipeptide, independently associated with Crohn's disease risk; often co-inherited on a haplotype with the V793M variant

Chromosome 16 Risk Allele T Category IBD & Mucosal Immunity Tags Innate Immunity, Inflammatory Bowel Disease, Crohn's Disease, Gut Microbiome, Bacterial Sensing, Autoimmune

Your immune system never stops reading bacteria. In the lining of your small intestine, an intracellular sensor called NOD2 (nucleotide-binding oligomerization domain-containing protein 2)(https://pubmed.ncbi.nlm.nih.gov/11385576/) monitors every passing microbe and decides whether to mount a defensive response or...

rs10490924 Second strongest genetic risk factor for age-related macular degeneration, affecting complement activation and retinal cell oxidative stress

Chromosome 10 Risk Allele T Category Skin & Eyes Tags Eye Health, Aging, Antioxidants, Diet, Supplement, Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is the leading cause of irreversible blindness(https://pubmed.ncbi.nlm.nih.gov/28086806/) in people over 65 in developed countries. The ARMS2 gene produces a protein found in retinal pigment epithelium cells and immune cells(https://pubmed.ncbi.nlm.nih.gov/28086806/),...

rs1049255 3'UTR variant in the NADPH oxidase p22-phox subunit affecting superoxide generation and vascular oxidative stress

Chromosome 16 Risk Allele C Category Vascular Inflammation & Remodeling Tags Oxidative Stress, Cardiovascular, Endothelial Health, Nitric Oxide, Inflammation

Your blood vessels rely on a delicate balance between two opposing forces: nitric oxide (NO), which relaxes and protects the endothelium, and superoxide, a reactive oxygen species that consumes NO and damages vessel walls. The rs1049255 variant in the CYBA gene shifts this balance by altering how much superoxide...

rs1049353 Synonymous exon 4 variant in the cannabinoid receptor 1 gene; near an exon splice enhancer, it alters CB1 mRNA stability and modulates vulnerability to cannabis-induced brain changes, PTSD after trauma, and antidepressant treatment response

Chromosome 6 Risk Allele T Category Mood & Behavior Tags Endocannabinoid, Addiction, Stress Response, Anxiety, Neurotransmitters, Brain Health, Cannabis

The endocannabinoid system — built around CB1 receptors encoded by the CNR1 gene — is the brain's master volume knob for emotional intensity. When you experience fear, stress, or reward, endocannabinoid signaling at CB1 receptors modulates how strongly neurons fire, how vividly memories consolidate, and how readily...