Research — GeneOps

rs1562444 Regulatory 3'UTR variant in the melatonin receptor 1B gene that affects MTNR1B expression levels and plasma melatonin dynamics, modulating the circadian suppression of pancreatic insulin secretion and metabolic health

Chromosome 11 Risk Allele G Category Blood Sugar & Diabetes Tags Melatonin, Circadian, Diabetes, Insulin, Metabolic Health, Sleep

Your body runs on a 24-hour clock, and melatonin is its timekeeper. As darkness falls, melatonin rises — signaling sleep, lowering core body temperature, and, critically, telling your pancreatic beta cells to reduce insulin secretion until morning. The MTNR1B gene encodes the melatonin receptor type...

rs157582 Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) associated with aging-related verbal memory decline, accelerated hippocampal atrophy, and Alzheimer's disease risk, with effects partially independent of APOE

Chromosome 19 Risk Allele T Category Neurology & Cognition Tags Alzheimer's, Memory, Cognitive Decline, Mitochondria, Neurodegeneration, Aging

Every protein your neurons need to maintain their mitochondria must be physically imported across the outer mitochondrial membrane. The protein that guards this gateway is TOM40, encoded by TOMM40(https://www.ncbi.nlm.nih.gov/snp/rs157582). When TOMM40 function is compromised in neurons, mitochondrial biogenesis...

rs162049 Intronic MTRR variant associated with reduced enzyme expression and impaired B12-dependent homocysteine remethylation

Chromosome 5 Risk Allele G Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Folate

MTRR (methionine synthase reductase) is the enzyme that keeps methionine synthase | MTR: the enzyme that converts homocysteine to methionine using methylcobalamin (active B12) as a cofactor (MTR) running. During normal operation, MTR oxidizes its methylcobalamin cofactor to an inactive cob(II)alamin form — and it is...

rs1800849 Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 expression and fatty acid oxidation, with associations with BMI, insulin resistance, and type 2 diabetes risk

Chromosome 11 Risk Allele A Category Fat Storage & Energy Tags Fat Metabolism, Diabetes, Insulin, Diet, Mitochondria

Uncoupling protein 3 (UCP3) is a mitochondrial transporter found predominantly in skeletal muscle(), with lower expression in cardiac muscle and adipose tissue. Its primary job is to "uncouple" the proton gradient in the mitochondria from ATP synthesis, dissipating some energy as heat rather than storing it. Beyond...

rs1934953 Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension susceptibility, COPD risk, and bladder cancer protection

Chromosome 10 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Cardiovascular, Cancer Risk, Blood Pressure

The CYP2C8 gene encodes one of the major phase I drug-metabolizing enzymes in the liver, responsible for clearing a clinically important set of medications including the chemotherapy drug paclitaxel, diabetes medications rosiglitazone and pioglitazone, and the antimalarial amodiaquine. Beyond drug metabolism, CYP2C8...

rs2016105 Intronic regulatory variant in ELK3 influencing circulating TSH levels and hypothyroidism susceptibility — the rare A allele increases risk by approximately 28% per copy

Chromosome 12 Risk Allele A Category Hormones & Sleep Tags Thyroid, Hormones & Thyroid, Hormones, Metabolic Health, Biomarkers, Autoimmune

Your thyroid is calibrated to a set point — a target circulating level of thyroid-stimulating hormone (TSH)(https://pubmed.ncbi.nlm.nih.gov/41238958/) that your hypothalamic-pituitary-thyroid axis defends continuously. That set point is not the same for everyone: a substantial fraction of variation in TSH levels...

rs2016520 Regulatory variant that increases PPARD transcription, enhancing fat oxidation during exercise and endurance capacity; the C allele is associated with elite endurance athlete status

Chromosome 6 Risk Allele C Category Fitness & Body Tags Endurance, Exercise, Fat Metabolism, Cardiovascular, Muscle

PPARδ() is often called the "exercise factor in a bottle" — researchers found that activating it in sedentary mice produced animals with dramatically improved endurance without any training. In humans, PPARδ governs how efficiently skeletal muscle burns fat during prolonged exercise. The +294TC variant (rs2016520)...

rs2073658 Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulation and is associated with familial combined hyperlipidemia susceptibility and elevated triglycerides

Chromosome 1 Risk Allele T Category Triglycerides & Fatty Acids Tags Fat Metabolism, Triglycerides, Cholesterol, Cardiovascular, Insulin

When researchers searched for the genetic root of familial combined hyperlipidemia — the most common inherited lipid disorder, affecting 1–2% of the population and responsible for a disproportionate share of premature coronary disease — the trail led to USF1. This gene encodes upstream stimulatory factor...

rs2402970 Intronic NRF1 variant associated with baseline differences in ventilatory threshold and running economy — the T allele predicts lower aerobic efficiency independent of training, with a stronger signal (p=0.004) than the companion rs6949152 variant (p=0.047)

Chromosome 7 Risk Allele T Category Longevity & Aging Tags Mitochondria, Longevity, Aging, Aerobic Capacity, Endurance, Fitness

Nuclear respiratory factor 1 (NRF1) is the master transcription factor that executes the mitochondrial biogenesis program — converting the upstream signal from PGC-1alpha into actual transcription of the nuclear genes that build the electron transport chain, import proteins into the mitochondrion, and replicate...

rs28934568 Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrome type 2 — a connective tissue disorder with high risk of early aortic aneurysm and dissection requiring lifelong cardiovascular surveillance

Chromosome 3 Risk Allele C Category Vascular Inflammation & Remodeling Tags Cardiovascular, Connective Tissue, Heart Disease, Genetic Counseling, Congenital

Every blood vessel in your body is held under tension by the interplay of growth signals and structural proteins. One of the most critical regulators of this balance is TGF-β signaling(https://pubmed.ncbi.nlm.nih.gov/15731757/). TGFBR2 encodes the type II receptor for TGF-β — the receptor that first captures the...