Research — GeneOps

rs8094327 Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodium channel ubiquitination and blood pressure regulation

Chromosome 18 Risk Allele G Category Blood Pressure & Hypertension Tags Blood Pressure, Hypertension, Salt Sensitivity, Kidney, Cardiovascular, Heart Disease

Your kidneys hold enormous power over your blood pressure. Each day they filter roughly 180 litres of plasma, and a critical circuit in the distal nephron decides how much sodium — and with it, water — gets reclaimed before the urine exits the body. The master regulator of that circuit is NEDD4L: an E3 ubiquitin...

rs146597587 Rare splice acceptor variant that abolishes IL-33/ST2 signalling; the C allele produces a truncated, receptor-blind IL-33 protein that halves eosinophil counts and cuts asthma risk by more than half

Chromosome 9 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, Innate Immunity, Inflammation, Lung Health, Immune Response, Immune Function

Every day your airways face pollutants, allergens, and viruses. When epithelial cells lining the lung are damaged, they release an alarmin called IL-33 (interleukin-33)(https://pubmed.ncbi.nlm.nih.gov/28273074/). IL-33 is a key initiator of the cascade that culminates in airway narrowing, mucus hypersecretion, and...

rs17518584 Intronic CADM2 variant genome-wide significant for information processing speed; the C allele is associated with slower reaction time and cognitive throughput, while T carriers show faster symbol-digit substitution performance

Chromosome 3 Risk Allele C Category Neurology & Cognition Tags Cognition, Brain Health, Neuroplasticity, Neurotransmitters, Memory, Lifestyle

The speed at which you process information — swapping symbols for digits, following sequences, reacting to stimuli — has a measurable heritable component. One of the most robust genetic contributors identified through GWAS is a variant in CADM2(https://pubmed.ncbi.nlm.nih.gov/25869804/). The rs17518584 C/T variant...

rs17696736 Intronic tag SNP at the 12q24 locus that captures SH2B3/LNK regulatory variation, increasing risk for type 1 diabetes, juvenile idiopathic arthritis, and other autoimmune diseases; also associated with modest effects on lipid levels and serum urate

Chromosome 12 Risk Allele G Category Blood Sugar & Diabetes Tags Type 1 Diabetes, Autoimmune, T-Cell Regulation, Uric Acid, Metabolic Health, Immune & Autoimmune

The rs17696736 variant sits inside an intron of NAA25 (N-alpha-acetyltransferase 25) on chromosome 12q24, but its disease associations are better understood through the wider 12q24 locus(https://pubmed.ncbi.nlm.nih.gov/24936253/). rs17696736 acts as a tag SNP for this region, meaning it travels in linkage...

rs1799930 Slow acetylator variant affecting Phase II detoxification capacity

Chromosome 8 Risk Allele A Category Methylation & Detox Tags Detoxification, Acetylation, Drug Metabolism, Phase II, Xenobiotics

The R197Q variant (rs1799930) is another common slow acetylator allele in the NAT2 gene. It changes arginine to glutamine at position 197 of the enzyme, affecting protein stability and catalytic activity. This variant characterizes the NAT26A haplotype. The Mechanism Arginine at position 197 forms important salt...

rs1862513 Promoter variant that increases resistin expression via Sp1/Sp3 transcription factor binding, elevating circulating resistin and promoting insulin resistance and inflammation

Chromosome 19 Risk Allele G Category Fat Storage & Energy Tags Nutrition & Metabolism, Insulin Resistance, Inflammation, Diabetes, Cardiovascular, Omega-3

Resistin is an adipokine — a signaling molecule secreted primarily by macrophages in human adipose tissue — that acts as a brake on insulin action and an accelerator of inflammation. Unlike in rodents where it comes from fat cells directly, human resistin is mainly produced by macrophages infiltrating adipose...

rs1934980 Intronic CYP2C8 variant linked to altered enzyme expression and associated with bisphosphonate-related jaw complications and clopidogrel response

Chromosome 10 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Cardiovascular, Cancer Treatment, Bone Health

CYP2C8(https://www.ncbi.nlm.nih.gov/gene/1558) is a workhorse of hepatic drug clearance. Unlike its close relative CYP2C9, CYP2C8 handles a distinct substrate portfolio: the cancer drug paclitaxel, the diabetes drugs rosiglitazone and repaglinide, the antimalarial amodiaquine, and the NSAIDs ibuprofen and...

rs2070600 Missense variant in the AGER pattern-recognition receptor that reduces soluble RAGE shedding, amplifying inflammatory signaling via NF-κB and AGE pathway activation; associated with lung disease, diabetic complications, and modulated neuroinflammatory risk

Chromosome 6 Risk Allele T Category Hormones & Sleep Tags Neuroinflammation, Aging, Oxidative Stress, Alzheimer's, Cardiovascular, Sleep

AGER encodes RAGE (Receptor for Advanced Glycation End-Products), a pattern recognition receptor() in the immunoglobulin superfamily. RAGE is found on endothelial cells, neurons, immune cells, and lung epithelium. Its ligands include advanced glycation end-products(https://pubmed.ncbi.nlm.nih.gov/37266370/), HMGB1...

rs2236212 Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing the conversion of EPA to DPA and DPA to DHA, and increasing responsiveness to omega-3 supplementation

Chromosome 6 Risk Allele C Category Triglycerides & Fatty Acids Tags Omega-3, Lipid Metabolism, Nutrition & Metabolism, Cardiovascular, Liver Health, Inflammation

Most people know that omega-3 fatty acids protect the heart and brain, but far fewer know that the body's ability to make its own DHA from dietary precursors varies significantly by genetics. The ELOVL2 gene encodes elongase-2(), the enzyme responsible for the final elongation steps in the omega-3 pathway:...

rs2267668 Intronic PPARD variant that impairs aerobic fitness gains and body composition improvement with training; G-allele carriers show reduced mitochondrial function and smaller muscle volume increases with exercise

Chromosome 6 Risk Allele G Category Fitness & Body Tags Endurance, Exercise, Fat Metabolism, Mitochondria, Muscle

PPARδ() sits at the intersection of genetics and exercise science: your genotype here doesn't change your resting fitness, but it does influence how strongly your aerobic capacity improves when you train. The rs2267668 SNP lies in an intronic region of PPARD (also annotated to the gene's 5' region in some transcript...