Research — GeneOps

rs854572 Promoter polymorphism that modulates PON1 gene expression level — the G allele (plus-strand alternate; corresponds to coding-strand C at the -909 position) reduces transcriptional output, lowering circulating PON1 enzyme and diminishing HDL-associated antioxidant protection against LDL oxidation.

Chromosome 7 Risk Allele G Category Vascular Inflammation & Remodeling Tags Cardiovascular, HDL Cholesterol, Oxidative Stress, Antioxidants, Atherosclerosis, Cholesterol

The paraoxonase-1 (PON1) gene produces an enzyme that travels on HDL particles(https://pubmed.ncbi.nlm.nih.gov/10669651/) and acts as the bloodstream's primary defense against oxidized LDL — the form of "bad cholesterol" that initiates plaque buildup in artery walls. Three polymorphisms in the PON1 promoter region...

rs187080438 Intronic variant in the CTSS locus associated with elevated atopic dermatitis risk through altered cathepsin S expression in antigen-presenting cells

Chromosome 1 Risk Allele T Category Allergy & Atopic Disease Tags Autoimmune, MHC Antigen Presentation, Skin Health, Inflammation, Immune System, Skin

Cathepsin S (CTSS) is a lysosomal cysteine protease with an indispensable role at the heart of adaptive immunity: it is the primary enzyme that cleaves the invariant chain (Ii/CD74) from MHC class II molecules(https://pubmed.ncbi.nlm.nih.gov/8612130/), enabling antigen loading and T-cell activation. When CTSS...

rs1979277 Alters one-carbon metabolism and folate distribution; influences cancer risk, folate levels, and cardiovascular disease in combination with MTHFR variants

Chromosome 17 Risk Allele A Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Cardiovascular, Inflammation, Diet

The SHMT1 gene encodes serine hydroxymethyltransferase 1, a pyridoxal phosphate (vitamin B6)-dependent enzyme(https://pubmed.ncbi.nlm.nih.gov/40738465/) that sits at a critical junction in one-carbon metabolism(https://pubmed.ncbi.nlm.nih.gov/20307505/). SHMT1 converts serine and tetrahydrofolate into glycine and...

rs2153535 Regulatory variant near MUTED/BLOC1S5, a gene whose mouse homolog controls otolith synthesis in the vestibular labyrinth; the G allele increases susceptibility to motion sickness at genome-wide significance

Chromosome 6 Risk Allele G Category Neurology & Cognition Tags Brain Health, Sensory Processing, Migraine, Neurological Risk, Sensorineural

Motion sickness is not a matter of imagination or willpower — it has a measurable genetic architecture. The largest GWAS of motion sickness to date (80,494 individuals from 23andMe) identified 35 genome-wide significant loci, and the variant near MUTED on chromosome 6 stands out for pointing directly to the sensory...

rs2268574 Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 reference, minor at ~43% globally) has been associated with gestational diabetes risk in some small studies, though evidence is limited and inconsistent across populations

Chromosome 7 Risk Allele A Category Blood Sugar & Diabetes Tags Fasting Glucose, Pancreatic Beta Cell, Diabetes, Insulin, Women's Health, Metabolic Health

Glucokinase() (GCK) is one of the most consequential metabolic genes in the human genome. Rare loss-of-function mutations cause MODY2 — lifelong mild fasting hyperglycemia. Activating mutations cause congenital hyperinsulinism. Common intronic variants such as rs4607517 are among the most robustly replicated loci...

rs2515641 Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, altering metabolism of acetaminophen, isoniazid, ethanol, and volatile anesthetics

Chromosome 10 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Liver Health, Alcohol, Environmental Toxins

CYP2E1 (cytochrome P450 2E1) is the liver enzyme responsible for metabolizing a remarkably diverse set of substrates: acetaminophen (paracetamol), isoniazid (a front-line antibiotic for tuberculosis), ethanol at high concentrations, volatile anesthetics such as halothane, and a range of industrial solvents including...

rs3211883 Intronic CD36 variant associated with altered body adiposity and platelet CD36 expression; the minor A allele tags a haplotype linked to higher waist circumference and BMI, reflecting CD36's role in long-chain fatty acid sensing and uptake

Chromosome 7 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, Cardiovascular, Adipogenesis, Lipid Metabolism, Ancestry-Specific

CD36(https://pubmed.ncbi.nlm.nih.gov/21893951/) performs a striking number of jobs simultaneously: it transports long-chain fatty acids across cell membranes, senses dietary fat on the tongue and in the gut, mediates uptake of oxidized LDL into macrophages (a key step in atherosclerotic plaque formation), and...

rs324981 Gain-of-function missense variant in the neuropeptide S receptor that increases receptor signaling ~10-fold, promoting wakefulness and reducing sleep duration

Chromosome 7 Risk Allele T Category Hormones & Sleep Tags Sleep, Arousal, Anxiety, Circadian

The NPSR1 gene encodes the receptor for neuropeptide S (NPS)(), a powerful arousal-promoting and anxiolytic neuropeptide. NPS is one of a handful of brain signals that simultaneously promotes wakefulness and reduces anxiety — a combination that is pharmacologically unusual, since most wake-promoting compounds...

rs3734254 PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the metabolic response to lifestyle intervention

Chromosome 6 Risk Allele C Category Fat Storage & Energy Tags Diabetes, Fat Metabolism, Insulin Resistance, Metabolic, Energy Metabolism, Cardiovascular

Peroxisome proliferator-activated receptor delta (PPARδ) is the master regulator of fatty acid beta-oxidation| Fatty acid beta-oxidation is the process of breaking down fat molecules into acetyl-CoA for energy production, primarily in skeletal muscle and heart in skeletal muscle, heart, and liver. Think of it as the...

rs4946935 Functionally validated FOXO3 intronic variant that creates an SRF binding site on the longevity allele, driving IGF-1-reversible enhancer activity and higher FOXO3 expression

Chromosome 6 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, Oxidative Stress, Inflammation, Cardiovascular, Ovarian Reserve, Menopause

FOXO3 is the most consistently replicated human longevity gene, with associations validated across every major population group. While multiple intronic variants in FOXO3 tag longevity haplotypes, most are statistical proxies — markers in linkage disequilibrium with the true functional variant. rs4946935 is...