Research — GeneOps

rs3776455 Intronic MTRR variant associated with altered folate-pathway cancer risk and B12-dependent homocysteine metabolism

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

Methionine synthase reductase (MTRR) is the enzyme that keeps the methylation cycle running by reactivating its partner enzyme, methionine synthase (MTR). MTR uses methylcobalamin (active vitamin B12) to convert homocysteine to methionine — a reaction central to both cardiovascular health and one-carbon metabolism....

rs4812829 Common intronic variant in HNF4A associated with modestly elevated type 2 diabetes risk via reduced pancreatic beta-cell function; identified through GWAS in South Asian and European populations

Chromosome 20 Risk Allele A Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic Health, Energy Metabolism, Insulin Resistance, Diet

Hepatocyte nuclear factor 4-alpha (HNF4A) is one of the most important transcription factors in human metabolism. In the liver, it orchestrates glucose output, fatty acid oxidation, and cholesterol synthesis. In the pancreatic beta cell, it is indispensable for normal insulin gene expression and glucose-stimulated...

rs4926 Missense variant in C1-inhibitor gene associated with insomnia risk through neuroinflammatory and blood-brain barrier mechanisms

Chromosome 11 Risk Allele A Category Hormones & Sleep Tags Sleep, Neuroinflammation, Complement, Innate Immunity, Inflammation, Hereditary Angioedema, Complement System

Deep inside the complement cascade, one protein quietly keeps the rest of the immune system from attacking your blood vessels and brain. That protein is C1-inhibitor(https://medlineplus.gov/genetics/gene/serping1/), encoded by SERPING1. The Val480Met variant (rs4926) — a switch from valine to methionine at position...

rs5956 Synonymous coding variant in CD36 fatty acid translocase; the minor A allele is associated with lower atheromatous plaque thickness and altered left ventricular diastolic parameters, likely through linked regulatory changes that affect CD36 expression.

Chromosome 7 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, Cardiovascular, Cholesterol, Metabolic, Diet

CD36 (also called fatty acid translocase(https://pubmed.ncbi.nlm.nih.gov/37882731/)) is one of the body's primary gatekeepers for how cells import dietary and circulating fat. It is responsible for a large fraction of long-chain fatty acid uptake in the heart, skeletal muscle, and adipose tissue, and also helps...

rs709158 Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G allele is associated with higher LDL-cholesterol and participates in multi-locus interactions affecting abdominal obesity, CRP, and metabolic trait variation.

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Adipogenesis, LDL Cholesterol, Metabolic Health, Insulin, Fat Metabolism, Cardiovascular

Peroxisome proliferator-activated receptor gamma (PPARγ(https://pubmed.ncbi.nlm.nih.gov/18288282/)) is one of the most metabolically consequential proteins in the human body. rs709158 is a common intronic variant in PPARG, sitting at GRCh38 chr3:12,421,677 (AG substitution, plus strand). Although it does not change...

rs9536314 Longevity-associated variant exhibiting overdominance where heterozygotes show enhanced cognition and lifespan while homozygotes have reduced survival

Chromosome 13 Risk Allele G Category Longevity & Aging Tags Mental Health, Longevity, Cardiovascular, Alzheimer's, Neurotransmitters

The KLOTHO gene encodes an anti-aging protein named after the Greek goddess who spins the thread of life. Mice deficient in klotho exhibit accelerated aging phenotypes including atherosclerosis, osteoporosis, and shortened lifespan(https://pubmed.ncbi.nlm.nih.gov/9353119/), establishing klotho as a fundamental...

rs2244012 Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for asthma at this locus (P=3.04×10⁻⁷); the G allele tags a regulatory haplotype in the Th2 locus control region and is associated with elevated serum IgE and susceptibility to asthma and atopic disease through amplified IL-4/IL-13 output

Chromosome 5 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, Inflammation, Immune Response, Autoimmune, T-Cell Regulation, Skin Health

The RAD50 gene(https://pubmed.ncbi.nlm.nih.gov/12871646/) sits at one of the most replicated atopy-susceptibility loci in the human genome. At position chr5:132,565,533, rs2244012 lies within intron 2 of RAD50, 5q31.1 — a chromosomal address that genomicists have been tracking since the first genome-wide scans for...

rs34311866 Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regulation, slows alpha-synuclein clearance, and increases risk for Parkinson's disease and REM sleep behavior disorder

Chromosome 4 Risk Allele C Category Neurology & Cognition Tags Parkinson's, Neurodegeneration, Autophagy, Neurological Risk, Cognitive Decline, Neuroprotection

Deep inside every cell, lysosomes act as the cell's recycling plant — breaking down old proteins, clearing misfolded aggregates, and recycling the parts. Maintaining the right internal pH (around 4.5–5.0) is essential for the digestive enzymes inside to work. TMEM175 encodes a lysosomal ion...

rs3765467 Missense variant in the GLP-1 receptor that alters drug response to GLP-1 agonists (Ozempic, Wegovy, Saxenda) and DPP-4 inhibitors, with genome-wide significant protection against type 2 diabetes in East Asians

Chromosome 6 Risk Allele A Category Pharmacogenomics Tags Drug Response, Diabetes, Obesity, Pharmacogenomics

The GLP-1 receptor(https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLP1R) is the direct drug target for some of the most prescribed medications in modern medicine: semaglutide (Ozempic, Wegovy), liraglutide (Saxenda, Victoza), and exenatide (Byetta). Unlike most pharmacogenomic variants that affect drug...

rs3776467 Intronic MTRR variant with sex-specific association with DNA methylation patterning in one-carbon metabolism

Chromosome 5 Risk Allele A Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Cancer Risk, Methylation & Detox

The MTRR gene encodes methionine synthase reductase, a flavoprotein that keeps the methylation cycle running by reactivating methionine synthase (MTR) after oxidative inactivation. Without functional MTRR, MTR can't recycle homocysteine to methionine, and the entire one-carbon methylation machinery stalls. The...