Research — GeneOps

rs13217795 Original 2008 Willcox longevity discovery variant; C allele tags the protective haplotype and shifts FOXO3 expression toward full-length isoforms away from truncated non-functional forms

Chromosome 6 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, Oxidative Stress, Inflammation, Insulin, Cardiovascular, Ovarian Reserve, Menopause

In 2008, Bradley Willcox and colleagues published what became the most influential longevity genetics paper of the decade. Scanning insulin/IGF-1 pathway genes in 3,741 Japanese American men enrolled in the Honolulu Heart Program, they identified three variants in FOXO3A simultaneously associated with extreme...

rs13361189 Autophagy regulator affecting bacterial clearance in the gut and Crohn's disease susceptibility

Chromosome 5 Risk Allele C Category IBD & Mucosal Immunity Tags Immune & Gut, Autophagy, IBD, Microbiome, Infection Risk

Your cells have a sophisticated waste disposal and defense system called autophagy — literally "self-eating" — that wraps up cellular debris, damaged organelles, and invading bacteria in membranous sacks and destroys them. IRGM (Immunity-Related GTPase M) acts as a master regulator of this process, especially in the...

rs137853096 Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting peroxisomal fatty acid beta-oxidation; homozygous or compound heterozygous carriers develop either severe neonatal DBP deficiency or the milder Perrault syndrome (sensorineural hearing loss and ovarian insufficiency); heterozygous carriers are unaffected

Chromosome 5 Risk Allele A Category Metabolic Enzymes & Rare Disorders Tags Lipid Metabolism, Hearing Loss, Ovarian Reserve, Carrier Status, Vitamins, Reproductive Health, Genetic Counseling

Inside every cell, the peroxisome acts as a specialized metabolic furnace — the only compartment capable of breaking down very-long-chain fatty acids (VLCFAs)() and branched-chain fatty acids such as pristanic acid. The HSD17B4 gene encodes D-bifunctional protein (DBP)(), a peroxisomal enzyme that catalyzes two...

rs13900 3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, elevating MCP-1 protein output and monocyte recruitment in arterial inflammation

Chromosome 17 Risk Allele T Category Vascular Inflammation & Remodeling Tags Atherosclerosis, Cardiovascular, Inflammation, Innate Immunity, Immune Response

Your genome contains not only the code for proteins but also regulatory sequences that control how long those messages survive inside cells. The rs13900 variant in the 3' untranslated region of CCL2 — the gene encoding monocyte chemoattractant protein-1 (MCP-1) — is one of these regulatory switches. Unlike the...

rs1421405659 Ultra-rare dominant missense variant in slow skeletal myosin-binding protein C that disrupts sarcomere structure, causing early-onset myopathy with myogenic tremor (MYOTREM) and, in some families, distal arthrogryposis.

Chromosome 12 Risk Allele C Category Fitness & Body Tags Muscle, Congenital, Fitness, Neuropathy, Neurological Risk, Injury Risk

Most tremors originate in the brain or spinal cord — a glitch in neural circuitry. But heterozygous variants in MYBPC1, which encodes the slow-twitch isoform of myosin-binding protein C(https://pubmed.ncbi.nlm.nih.gov/31025394/), produce a tremor that arises from the muscle itself. This condition, now formally named...

rs1529868 Intronic GREB1 variant at 2p25.1 (c.772+34) in high LD (r²=0.853 CEU) with the established endometriosis lead SNP rs11674184; the T allele tags the rs11674184-T endometriosis susceptibility signal and is the risk-associated allele at this locus

Chromosome 2 Risk Allele T Category Endometriosis & Uterine Health Tags Endometriosis, Estrogen, Fertility, Reproductive Health, Women's Health, Hormones

Endometriosis affects an estimated 10% of reproductive-age women and is one of the most under-diagnosed causes of chronic pelvic pain and infertility. The condition is estrogen-dependent: ectopic lesions generate their own local estrogen through elevated aromatase activity, and this autocrine loop sustains ectopic...

rs1693482 ADH1C variant defining the fast (ADH1C*1, Arg272) vs slow (ADH1C*2, Gln272) alcohol dehydrogenase isoforms; ADH1C*1 metabolizes ethanol ~2.5x faster, elevating cancer risk in heavy drinkers, while ADH1C*2 slows metabolism and reduces alcohol use disorder risk

Chromosome 4 Risk Allele C Category Mood & Behavior Tags Addiction, Alcohol, Cancer Risk, Liver Health, Detoxification, Carcinogen Metabolism

Most people who've heard of alcohol genetics know about ADH1B — the gene behind the "Asian flush." But there's a second, equally important alcohol dehydrogenase variant that operates in the same enzyme family and influences who gets hurt by alcohol and who gets heart-protective benefits. ADH1C encodes the gamma...

rs17228212 Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascular smooth muscle cell regulation and variable coronary artery disease risk across populations

Chromosome 15 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Inflammation, Fibrosis, Heart Disease

The SMAD3 gene encodes a central intracellular mediator of transforming growth factor-beta (TGF-β) signaling(https://omim.org/entry/603109). Within the vasculature, SMAD3 governs vascular smooth muscle cell (VSMC) behavior(https://pubmed.ncbi.nlm.nih.gov/30307970/). The intronic variant rs17228212 at chromosome...

rs174537 Regulatory variant in the FADS1 locus that controls delta-5 desaturase expression via promoter methylation, altering conversion of omega-6 and omega-3 precursors to long-chain PUFAs; the G allele drives higher arachidonic acid and cardiovascular risk while the T allele impairs EPA synthesis from plant-based omega-3

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

Deep within the FADS gene cluster on chromosome 11, rs174537 sits in a regulatory region that acts as a master volume control for FADS1(https://pubmed.ncbi.nlm.nih.gov/19148276/). This single nucleotide change — G versus T — determines how much FADS1 enzyme your cells produce, and in turn how efficiently your body...

rs17782313 Intergenic variant 188kb downstream of MC4R affecting appetite regulation, meal size, and obesity risk

Chromosome 18 Risk Allele C Category Appetite & Obesity Tags Appetite, Obesity, Metabolic, Diet, Insulin, Cardiovascular, Diabetes

The melanocortin-4 receptor (MC4R) sits at the heart of your brain's appetite regulation system. Located in the hypothalamus(), MC4R acts as a critical satiety receptor — when activated by melanocortin hormones, it signals "stop eating" and increases energy expenditure. The rs17782313 variant lies 188 kilobases...