Research — GeneOps

rs162040 Intronic MTRR tag SNP in a haplotype block where the C-allele variant associates with attenuated colorectal cancer survival benefit, modulated by pre-diagnostic alcohol intake

Chromosome 5 Risk Allele C Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Colorectal Cancer, Methylation & Detox

Methionine synthase reductase (MTRR) maintains the one-carbon methylation cycle by reactivating methionine synthase (MTR) after its methylcobalamin cofactor becomes oxidized during catalysis. When MTRR function is impaired — whether by coding variants that reduce enzyme efficiency or by regulatory variants that...

rs1800592 Promoter variant reducing UCP1 expression in brown adipose tissue, impairing cold-induced and postprandial thermogenesis and increasing visceral fat accumulation with age

Chromosome 4 Risk Allele C Category Fat Storage & Energy Tags Fat Metabolism, Obesity, Diet, Thermogenesis, Brown Fat, Metabolic

Brown adipose tissue (BAT) is the body's built-in furnace. Unlike white fat, which stores energy, brown fat burns calories by uncoupling the mitochondrial electron transport chain from ATP synthesis — dissipating energy directly as heat. The master switch for this process is uncoupling protein 1 (UCP1), encoded by...

rs1934951 Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisphosphonate-related osteonecrosis risk in multiple myeloma

Chromosome 10 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Cancer Treatment, Chemotherapy, Pharmacogenomics, Bone Health

CYP2C8 is one of the liver's key drug-metabolizing enzymes, responsible for breaking down a broad range of therapeutics including paclitaxel (a widely used chemotherapy agent), thiazolidinedione diabetes drugs, and antimalarials. Beyond drug metabolism, CYP2C8 converts arachidonic acid into epoxyeicosatrienoic acids...

rs1991517 Affects TSH receptor sensitivity and thyroid hormone regulation; influences TSH levels, metabolic function, and congenital hypothyroidism risk

Chromosome 14 Risk Allele G Category Hormones & Sleep Tags Hormones & Thyroid, Thyroid, Metabolism, Insulin, Bone Health, Sleep, Metabolic Health, Stress

The thyroid-stimulating hormone receptor (TSHR) sits on the surface of thyroid follicular cells, where it binds TSH from the pituitary and triggers the production of thyroid hormones T4 and T3. This receptor is a G-protein-coupled receptor(https://pmc.ncbi.nlm.nih.gov/articles/PMC3785642/) that controls virtually...

rs2010963 Promoter variant affecting VEGF-A expression and angiogenesis, influencing muscle adaptation to training and soft tissue injury risk

Chromosome 6 Risk Allele C Category Fitness & Body Tags Angiogenesis, Fitness, Injury Risk, Cardiovascular, Muscle, Endurance, Sprint & Power, Tendon Health

The VEGFA gene encodes vascular endothelial growth factor A(), the master regulator of angiogenesis — the formation of new blood vessels. This promoter variant, located at position -634 in the gene's regulatory region, directly affects how much VEGF-A your cells produce. The C allele increases VEGF-A expression,...

rs2072114 Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 desaturase activity, shifting the conversion of linoleic acid toward lower arachidonic acid production and modifying LDL-C in a diet-dependent manner.

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

The FADS2 gene encodes delta-6 desaturase(https://www.ncbi.nlm.nih.gov/gene/9415), the gateway enzyme controlling how your body converts essential fatty acids from food into the biologically active long-chain polyunsaturated fatty acids (LC-PUFAs) — including arachidonic acid (AA), EPA, and DHA. rs2072114 is an...

rs2295080 Promoter variant that reduces mTOR expression; the G allele lowers mTOR transcriptional activity and is associated with decreased cancer risk across multiple tumor types

Chromosome 1 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, Autophagy, Cancer Risk, Insulin, Cardiovascular

mTOR (mechanistic target of rapamycin) is arguably the most powerful longevity-relevant kinase in human biology. It integrates signals from nutrients, amino acids, growth factors, and energy status to control cell growth, protein synthesis, and — critically —...

rs2881766 Intronic variant in estrogen receptor alpha that alters ESR1 expression and has been associated with gestational hypertension risk and breast cancer susceptibility

Chromosome 6 Risk Allele T Category Vascular Inflammation & Remodeling Tags Cardiovascular, Hypertension, Estrogen, Preeclampsia, Breast Cancer, Women's Health

Estrogen receptor alpha (ERα), encoded by the ESR1 gene on chromosome 6q25.1, is one of the body's most important hormone receptors. It mediates estrogen's protective effects across multiple systems — from promoting vasodilation and suppressing vascular inflammation in the cardiovascular system, to regulating cell...

rs28933978 The most common OTC point mutation, abolishing ornithine transcarbamylase enzyme activity and causing X-linked urea cycle deficiency; hemizygous males face neonatal hyperammonemic crisis while heterozygous females have variable partial deficiency

Chromosome X Risk Allele A Category Metabolic Enzymes & Rare Disorders Tags Urea Cycle, Metabolic, Carrier Status, Genetic Counseling, Congenital, Women's Health

Every gram of dietary protein you digest produces ammonia — a neurotoxin that must be captured and converted to urea within minutes or it will damage the brain. The enzyme that performs this critical capture step is ornithine transcarbamylase (OTC), which combines ammonia (as carbamoyl phosphate) with ornithine to...

rs28942083 Pathogenic LDLR missense variant abolishing LDL receptor surface expression, causing familial hypercholesterolemia with severely elevated LDL-C from birth

Chromosome 19 Risk Allele A Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Statins, Diet

Your LDL cholesterol is cleared from the bloodstream primarily by a receptor protein called the LDL receptor (LDLR)(https://www.ncbi.nlm.nih.gov/gene/3949). Without enough functional LDLR, LDL accumulates in the blood from birth, silently depositing cholesterol in artery walls decades before symptoms appear. The...