Research — GeneOps

rs7137828 Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T allele elevates odds of glaucoma by ~17% per copy through reduced retinal ganglion cell function

Chromosome 12 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, Glaucoma, Eye Health, Neurodegeneration, mTOR Pathway

Ataxin-2 (ATXN2) encodes an RNA-binding protein best known for its role in spinocerebellar ataxia type 2, a neurodegenerative disorder caused by massive CAG repeat expansions in the gene. But common variants in ATXN2 tell a different story — one that intersects aging biology, RNA metabolism, and the health of the...

rs2227284 Intronic regulatory variant in IL-4, the master Th2 cytokine; the T allele impairs IL-4 transcriptional regulation, elevating Th2-skewed inflammatory tone and increasing susceptibility to asthma, allergic rhinitis, and severe infections, while the G allele is associated with reduced atopic disease risk

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Immune & Autoimmune, Autoimmune, Immune Function, Infection Risk

Interleukin-4 is the master architect of the Th2 immune response. It drives B cells to class-switch from IgM to IgE(https://pubmed.ncbi.nlm.nih.gov/26426602/), steers naive T cells toward the Th2 fate that underlies atopic disease, and suppresses the Th1 arm of immunity that fights intracellular pathogens. A variant...

rs2736990 Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and cognitive impairment; the G allele upregulates alpha-synuclein protein levels and is independent of rs356219

Chromosome 4 Risk Allele G Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Cognitive Decline

The SNCA gene(https://omim.org/entry/163890) harbors multiple independent risk variants, each tagging different biological mechanisms at the same locus. rs2736990 sits within intron 4 of SNCA — a region known for a complex CT-rich haplotype structure that influences alpha-synuclein expression and splicing — and was...

rs2838956 Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carrier expression or splicing, influencing methotrexate transport efficiency and folate uptake across cell membranes

Chromosome 21 Risk Allele G Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Homocysteine, Drug Metabolism

Every cell in your body depends on a constant supply of folate to make DNA, synthesize amino acids, and run the methylation cycle. Yet folate cannot cross cell membranes on its own. The reduced folate carrier 1 (RFC1), encoded by the SLC19A1 gene on chromosome 21, is the primary gateway — a high-capacity,...

rs35599367 Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affecting metabolism of ~50% of all prescription drugs

Chromosome 7 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Statins, Immunosuppressants, Pharmacogenomics, Antidepressants, Cardiovascular

CYP3A4 is the single most important drug-metabolizing enzyme in the human body. Located primarily in the liver and intestinal wall, it processes approximately 50% of all prescription medications(https://pubmed.ncbi.nlm.nih.gov/12814972/), making it the workhorse of human pharmacology. The 22 allele (rs35599367) is...

rs391300 Intronic variant in serine racemase that alters D-serine production in pancreatic beta cells, modulating NMDA receptor signaling and glucose-stimulated insulin secretion; C allele associated with increased type 2 diabetes and gestational diabetes risk, particularly in East Asian populations

Chromosome 17 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Pancreatic Beta Cell, Metabolic, Neurotransmitters, Ancestry-Specific

Serine racemase (SRR) is an enzyme best known for its role in the brain, where it converts the common amino acid L-serine into D-serine — a mirror-image molecule that acts as a critical co-agonist of NMDA receptors(https://pubmed.ncbi.nlm.nih.gov/27880078/). In 2016, researchers discovered that SRR is also highly...

rs4410790 Regulatory variant 54 kb upstream of the aryl hydrocarbon receptor gene; the strongest GWAS signal for habitual caffeine intake, influencing AHR expression, CYP1A2 inducibility, and caffeine clearance capacity

Chromosome 7 Risk Allele T Category Hormones & Sleep Tags Caffeine, Sleep, Circadian, Drug Metabolism, Detoxification

Of all the genetic variants associated with how much caffeine people habitually consume, rs4410790 is the single strongest signal ever detected in a genome-wide study. Located 54 kilobases upstream of the aryl hydrocarbon receptor (AHR) gene on chromosome 7, this regulatory variant does not change any protein...

rs4939883 Intronic variant near LIPG whose T allele increases circulating endothelial lipase levels and is associated with lower HDL cholesterol at genome-wide significance across multiple large cohorts

Chromosome 18 Risk Allele T Category Triglycerides & Fatty Acids Tags HDL Cholesterol, Cholesterol, Fat Metabolism, Cardiovascular, Lipid Metabolism, Triglycerides

Your HDL cholesterol is not a fixed trait — it is shaped moment to moment by enzymes that dismantle and rebuild lipoprotein particles circulating in your bloodstream. Endothelial lipase (EL)(https://pubmed.ncbi.nlm.nih.gov/19287092/) is the dominant enzymatic brake on HDL levels — the more EL circulates, the faster...

rs660339 Missense variant reducing mitochondrial uncoupling efficiency in white adipose tissue, lowering 24-hour energy expenditure and increasing visceral fat accumulation in Val homozygotes

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

Deep in your white fat cells, mitochondria constantly balance two competing demands: making ATP to power cellular work and dissipating energy as heat through a process called uncoupling(https://pubmed.ncbi.nlm.nih.gov/10557023/). UCP2 — uncoupling protein 2 — sits in the inner mitochondrial membrane and regulates...

rs7675998 Regulatory variant near the NAF1 telomerase assembly gene associated with shorter telomeres, higher cardiovascular risk, and lower cancer risk

Chromosome 4 Risk Allele A Category Longevity & Aging Tags Telomere Biology, Longevity, Cardiovascular, Cancer Risk, Aging

Deep inside your cells, telomeres serve as protective caps on chromosome ends — structural buffers that are consumed a little with each cell division. Maintaining them requires telomerase, a molecular machine with two essential parts: TERT, the protein enzyme, and TERC, the RNA template. But TERC cannot simply exist...