Research — GeneOps

rs6721961 Promoter variant reducing NRF2 transcriptional activity by >50%, impairing the master antioxidant response that controls glutathione synthesis, phase II detoxification, and cytoprotective gene expression

Chromosome 2 Risk Allele T Category Longevity & Aging Tags Oxidative Stress, Antioxidants, Detoxification, Longevity, Aging, Cardiovascular

Every cell in your body faces a constant barrage of oxidative stress from metabolism, environmental toxins, and inflammation. The primary defense is NRF2(), the master transcription factor that acts like an emergency broadcast system for the body's antioxidant defenses. When a cell detects oxidative stress, NRF2...

rs7834555 Intergenic GWAS tag SNP near the BCO1 pathway, associated with circulating beta-carotene and retinol levels independently of the functional BCO1 coding variants

Chromosome 8 Risk Allele A Category Vitamins & Nutrient Absorption Tags Vitamin A, Beta-Carotene, Diet, Food Sensitivity

The BCO1 gene (also known as BCMO1) encodes beta-carotene 15,15'-monooxygenase(), the central enzyme in the conversion of plant-based provitamin A into biologically active vitamin A. Most people are familiar with BCO1 through its two well-studied coding variants — rs7501331 (Ala379Val) and rs12934922 (Arg267Ser) —...

rs2070874 5'-UTR variant 33 bases downstream of the IL-4 transcription start site; the T allele alters local RNA secondary structure and is associated with elevated IL-4 production, raised serum IgE, and increased susceptibility to allergic asthma, atopic dermatitis, and allergic rhinitis through amplified Th2-skewed immune responses

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Autoimmune, Immune Response, Immune System, Skin Health

Interleukin-4(https://pubmed.ncbi.nlm.nih.gov/11122213/) is the central regulator of the allergy-prone immune state. The IL4 gene sits on chromosome 5q31.1, a region long known to harbour susceptibility loci for atopic disease. rs2070874 is a C-to-T substitution 33 bases into the 5'-untranslated region (5'-UTR) of...

rs2275565 Intronic MTR variant associated with elevated homocysteine and B12-dependent methylation stress

Chromosome 1 Risk Allele T Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine

This SNP sits in an intron of MTR, the gene encoding methionine synthase — the enzyme that uses vitamin B12 as a cofactor to remethylate homocysteine back to methionine. Unlike the well-known missense variant rs1805087 (MTR A2756G / D919G), rs2275565 does not change the amino acid sequence of the enzyme. Instead, it...

rs2583988 SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA risk haplotype (OR 2.51 for PD) and shows an independent TT homozygote association with Parkinson's disease risk and cognitive impairment

Chromosome 4 Risk Allele T Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Cognitive Decline

The SNCA gene(https://omim.org/entry/163890) is bounded at its 5′ end by a regulatory landscape that controls how much alpha-synuclein the cell produces. rs2583988 sits approximately 1.4 kilobases upstream of the SNCA transcription start site — a "near gene-5" position that places it within the promoter-adjacent...

rs28695233 Deep intronic CYP2D6 variant in intron 2 that serves as a haplotype tag in specific CYP2D6 sub-alleles; independent functional effect on enzyme activity is not established

Chromosome 22 Risk Allele G Category Pharmacogenomics Tags Pharmacogenomics, Drug Metabolism, Antidepressants, Pain Medication

The CYP2D6 gene metabolizes roughly 25% of all prescribed medications, including opioid pain relievers, antidepressants, antipsychotics, and cardiovascular drugs. Its highly polymorphic sequence — over 150 star alleles catalogued — means that careful variant-level characterization is essential for accurate...

rs3787345 Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype block; the minor C allele co-segregates with the risk haplotype associated with elevated PTP1B expression, impaired insulin signaling, and lipid dysregulation

Chromosome 20 Risk Allele C Category Blood Sugar & Diabetes Tags Insulin Resistance, Diabetes, LDL Cholesterol, Metabolic Health, Insulin, Cardiovascular

PTP1B — the protein encoded by PTPN1 — functions as one of the most precisely validated negative regulators of insulin signaling in the human body. When insulin binds its receptor and triggers the tyrosine kinase cascade that drives glucose uptake into muscle and fat cells, PTP1B dephosphorylates the activated...

rs3923809 Second independent intronic BTBD9 variant associated with restless legs syndrome and periodic limb movements during sleep via iron homeostasis and dopaminergic dysregulation

Chromosome 6 Risk Allele A Category Hormones & Sleep Tags Sleep, Iron, Dopamine, Neurological Risk, Fatigue, Circadian

BTBD9 (BTB Domain Containing 9) encodes a substrate adaptor for the CUL3-RBX1 E3 ubiquitin ligase complex(https://www.ncbi.nlm.nih.gov/gene/114781). In the nervous system, this protein acts as a gatekeeper of iron homeostasis in dopaminergic circuits — the pathways that coordinate movement, motivation, and the...

rs4775065 Intronic LIPC variant associated with susceptibility to low HDL-C and coronary heart disease through hepatic lipase activity modulation; A allele (minor, ~29% globally) confers elevated CHD risk

Chromosome 15 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, HDL Cholesterol, Cardiovascular, Cholesterol, Heart Disease, Triglycerides

Your liver sits at the end of the lipoprotein remodeling pipeline. After peripheral tissues have stripped triglycerides from VLDL using lipoprotein lipase, the leftover remnant particles — along with large, buoyant HDL2 — return to the liver surface, where hepatic lipase (encoded by LIPC) performs the final cleanup:...

rs4994 Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipolysis and thermogenesis in visceral adipose tissue, increasing susceptibility to abdominal obesity and metabolic dysfunction

Chromosome 8 Risk Allele C Category Fat Storage & Energy Tags Fat Metabolism, Obesity, Insulin, Diabetes, Diet, Cardiovascular

Deep in your adipose tissue, a molecular switch controls how efficiently your body burns stored fat during periods of catecholamine stimulation — the adrenaline-driven signal that activates lipolysis during fasting, exercise, and cold exposure. The ADRB3 gene encodes the beta-3 adrenergic receptor(), which plays a...