Research — GeneOps

rs2070744 NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide synthesis

Chromosome 7 Risk Allele C Category Methylation & Detox Tags Cardiovascular, Nitric Oxide, Detoxification, Histamine

While rs1799983 affects the structure of the eNOS enzyme, the T-786C | The -786 means 786 base pairs upstream of the gene's start; T-to-C is the nucleotide change promoter variant (rs2070744) controls how much enzyme is produced in the first place. This variant sits in the promoter region of the NOS3 gene, which is...

rs2306402 Intronic variant in the alpha-T-catenin gene associated with modestly increased late-onset Alzheimer's disease risk, with the strongest female-specific signal in intron 9 of CTNNA3

Chromosome 10 Risk Allele T Category Neurology & Cognition Tags Alzheimer's, Neurological Risk, Cognitive Decline, Brain Health, Dementia, Neurodegeneration

The gene CTNNA3 encodes alpha-T-catenin(https://pubmed.ncbi.nlm.nih.gov/21598020/). While its better-known relative alpha-E-catenin is ubiquitous in epithelial tissue, alpha-T-catenin is enriched in heart and brain, where it stabilizes adherens junctions and supports synaptic integrity. The rs2306402 variant sits...

rs28371733 Rare CYP2D6 stop-gain variant (Glu418Ter) that eliminates enzyme activity, causing poor metabolism of opioids, antidepressants, antipsychotics, and tamoxifen

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

The CYP2D6 enzyme handles roughly 25% of all prescribed medications, including opioid pain relievers, antidepressants, antipsychotics, and the breast cancer drug tamoxifen. Most people carry at least one functional copy of CYP2D6, but a small subset carry rare variants that prevent any enzyme from being made at all....

rs290475 Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence for effects on beta cell transcriptional regulation through the Wnt/beta-catenin axis

Chromosome 10 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic Health, Fat Metabolism, Diet

The TCF7L2 gene holds a unique distinction in human genetics: it is the single strongest common genetic predictor of type 2 diabetes, with effects replicated across every major ethnic population studied. Two variants — rs7903146 and rs12255372 — are already well-characterized in this encyclopedia. rs290475 sits...

rs35333999 Missense variant in core circadian clock gene PER2 that lengthens intrinsic circadian period and shifts chronotype toward eveningness

Chromosome 2 Risk Allele T Category Hormones & Sleep Tags Circadian, Sleep, Chronotype, Metabolism, Diet

The PER2 gene encodes Period Circadian Regulator 2(https://www.genecards.org/cgi-bin/carddisp.pl?gene=PER2), one of the master gears of your internal 24-hour clock. PER2 protein accumulates during the day, enters the nucleus, and shuts down the CLOCK:BMAL1 transcription complex — resetting the cycle. The rs35333999...

rs3798713 Intronic variant in ELOVL2 associated with altered plasma phospholipid PUFA levels; the C allele tags a haplotype with reduced DHA production and higher DPA accumulation, indicating impaired elongation of DPA to the DHA precursor

Chromosome 6 Risk Allele C Category Triglycerides & Fatty Acids Tags Omega-3, Fat Metabolism, Brain Health, Nutrition & Metabolism, Cardiovascular, Retinal Health

Every molecule of DHA in your brain and retina was either eaten directly or assembled through a five-step enzymatic relay starting from alpha-linolenic acid (ALA) in plants. The final, rate-limiting steps of that relay — elongating EPA to DPA, and elongating DPA to the immediate DHA precursor — are both catalysed by...

rs3856806 Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and improves LDL and HDL cholesterol despite no amino acid change

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Diabetes, Insulin Resistance, Adipogenesis, Lipid Metabolism, Metabolic Health, Cardiovascular

PPARG (peroxisome proliferator-activated receptor gamma) is the master regulator of adipogenesis| Adipogenesis: the differentiation of precursor cells into mature fat-storing adipocytes. PPARG is required for this process — without it, adipocytes cannot form. and a central hub for insulin sensitivity. It is the...

rs5882 Missense variant that reduces CETP enzyme activity, raising HDL-C and enlarging lipoprotein particles; the Val/Val (GG) genotype is enriched in Ashkenazi Jewish centenarians and associated with slower cognitive decline

Chromosome 16 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, Cholesterol, Cardiovascular, Alzheimer's, HDL Cholesterol, Lipid Metabolism

Cholesteryl ester transfer protein (CETP) is the molecular shuttle that moves cholesterol esters from HDL to LDL and VLDL, simultaneously transferring triglycerides in the opposite direction. This exchange is a central step in reverse cholesterol transport — the process by which excess cholesterol is harvested from...

rs7061710 Intronic FMO3 variant associated with reduced hepatic oxidation of garlic-derived sulfur compounds (S-allylcysteine) and trimethylamine; C allele carriers accumulate higher circulating levels of unprocessed sulfur metabolites

Chromosome 1 Risk Allele C Category Vitamins & Nutrient Absorption Tags Metabolism, Diet, Cardiovascular, Detoxification, Nutrition & Metabolism, Gut Health

The flavin-containing monooxygenase 3 enzyme (FMO3()) is the liver's chemical processing station for two major classes of dietary compounds: trimethylamine from choline-rich foods (eggs, meat, fish) and sulfur-containing compounds from allium vegetables (garlic, onions, leeks). rs7061710 is an intronic variant in...

rs7181866 Intronic variant in the mitochondrial biogenesis regulator NRF2, associated with endurance athletic performance and intermittent exercise capacity

Chromosome 15 Risk Allele G Category Fitness & Body Tags Endurance, Mitochondria, Exercise Performance, Aerobic Capacity, Fitness, Metabolic

GABPB1 encodes the beta subunit of the GA-binding protein transcription factor(https://omim.org/entry/600610), one of the most important genetic determinants of aerobic capacity. NRF2 activates the genes encoding cytochrome c oxidase and other oxidative phosphorylation...