Research — GeneOps

rs855791 Master regulator of iron absorption via hepcidin control — the strongest common genetic determinant of iron status

Chromosome 22 Risk Allele A Category Iron & Mineral Transport Tags Iron, Cardiovascular, Diet, Vitamins

Your body's ability to absorb iron from food is not just about what you eat — it is tightly controlled by a hormonal gatekeeper called hepcidin(). Hepcidin blocks ferroportin(), the only iron export channel on gut cells, effectively slamming the door on iron absorption when levels are sufficient. The TMPRSS6 gene...

rs1295685 3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and expression level; the minor A allele co-segregates with the rs20541 Q130 risk haplotype and is associated with elevated serum IgE and increased susceptibility to atopic dermatitis and allergic rhinitis through amplified IL-13 Th2 signaling

Chromosome 5 Risk Allele A Category Allergy & Atopic Disease Tags Asthma, Inflammation, Autoimmune, Skin Health, T-Cell Regulation, JAK-STAT Signaling

Interleukin-13(https://pubmed.ncbi.nlm.nih.gov/12476080/) is one of the most potent mediators of allergic inflammation in humans. While the better-known rs20541 variant changes the amino acid sequence of the IL-13 protein (p.Arg130Gln), rs1295685 sits 481 base pairs downstream at position chr5:132660753 in the 3'...

rs137853000 Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causing serine protease domain dysfunction and autosomal recessive sensorineural hearing loss (DFNB8/DFNB10); originally identified in consanguineous Turkish families

Chromosome 21 Risk Allele A Category Neurology & Cognition Tags Hearing Loss, Sensorineural, Carrier Status

The TMPRSS3 gene encodes a type II transmembrane serine protease(https://pubmed.ncbi.nlm.nih.gov/34868270/) essential for the survival and maturation of cochlear hair cells. TMPRSS3 is unusual among serine proteases in that it undergoes autocatalytic activation — the full-length single-chain zymogen must cleave...

rs137853334 Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal dominant monogenic diabetes with neonatal hypoglycemia and sulfonylurea sensitivity

Chromosome 20 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic, Carrier Status, Genetic Counseling, Type 1 Diabetes

HNF4A (Hepatocyte Nuclear Factor 4 Alpha) is a master transcription factor that controls hundreds of genes in pancreatic beta cells and the liver. Unlike the common polygenic variants that nudge diabetes risk by a few percent, a pathogenic variant in HNF4A rewrites your entire metabolic...

rs1532268 Missense variant in methionine synthase reductase that raises homocysteine when vitamin B12 is low, affecting B12-dependent methylation efficiency

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

The MTRR gene (methionine synthase reductase) runs a critical maintenance reaction in the methylation cycle. Methionine synthase (MTR) converts homocysteine back to methionine using vitamin B12 as a cofactor, but in doing so it oxidizes its own cobalamin | Cobalamin: the cobalt-containing form of vitamin B12 that...

rs17036314 Intronic PPARG variant — carriers of the C allele have elevated fasting glucose and higher risk of converting from impaired glucose tolerance to type 2 diabetes; the effect is substantially reduced by increased aerobic physical activity

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Diabetes, Insulin Resistance, Exercise, Fasting Glucose, Adipogenesis, Energy Metabolism

The PPARG gene encodes Peroxisome Proliferator-Activated Receptor Gamma(https://www.ncbi.nlm.nih.gov/gene/5468), the protein that coordinates adipocyte differentiation and insulin sensitization. It is also the molecular target of thiazolidinedione| Thiazolidinediones (e.g., pioglitazone, rosiglitazone) are diabetes...

rs17606561 3'-UTR variant in ELOVL2 associated with altered EPA-to-DHA conversion; A allele carriers tend to have lower baseline DHA and greater DHA response to marine omega-3 supplementation

Chromosome 6 Risk Allele A Category Triglycerides & Fatty Acids Tags Omega-3, Fat Metabolism, Brain Health, Eye Health, Micronutrients, Nutrition & Metabolism

Your body cannot make DHA from scratch. It relies on a metabolic relay: dietary alpha-linolenic acid (ALA) from plants is converted step by step — first to EPA, then elongated to DPA, and finally to DHA. The last two elongation steps in this relay are performed by ELOVL2, elongation of very long chain fatty acids...

rs1800460 Decreased-function variant causing reduced thiopurine methylation; pairs with TPMT*3C on the same chromosome to form the TPMT*3A haplotype, the most common cause of TPMT deficiency in Europeans

Chromosome 6 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Immunosuppressants, Blood Thinners, Pharmacogenomics

TPMT (thiopurine S-methyltransferase) is the enzyme your body uses to inactivate thiopurine drugs(https://pubmed.ncbi.nlm.nih.gov/30447069/) by methylating them into harmless metabolites. When TPMT activity is reduced, these drugs shunt into an alternative pathway that generates toxic thioguanine nucleotides, which...

rs1801253 Beta-1 adrenergic receptor variant where Arg389 produces higher basal activity and stronger catecholamine response, affecting exercise heart rate, beta-blocker pharmacogenomics, and cardiovascular risk

Chromosome 10 Risk Allele C Category Fitness & Body Tags Fitness, Cardiovascular, Heart Disease, Exercise Performance, Drug Response, Hypertension, Exercise

The ADRB1 gene encodes the beta-1 adrenergic receptor(), the principal mediator of sympathetic nervous system control over the heart. When adrenaline and noradrenaline flood the bloodstream during exercise, stress, or danger, they bind this receptor and accelerate the heart. The Arg389Gly variant determines just how...

rs1801260 Core circadian clock transcription factor variant affecting mRNA stability, associated with evening preference, delayed sleep onset, and shorter sleep duration

Chromosome 4 Risk Allele G Category Hormones & Sleep Tags Sleep, Circadian, Chronotype, Diet

The CLOCK gene (Circadian Locomotor Output Cycles Kaput) encodes the master transcription factor() at the heart of the mammalian circadian clock. Working with its partner BMAL1, the CLOCK protein drives rhythmic expression of thousands of genes that govern sleep-wake cycles, hormone secretion, metabolism, and body...