Research — GeneOps

rs4646903 Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene inducibility, producing more carcinogen-activating enzyme in oral and airway tissues upon tobacco smoke or dietary PAH exposure

Chromosome 15 Risk Allele G Category Dental & Oral Health Tags Detoxification, Phase I, Xenobiotics, Dental & Oral Health, Cancer Risk

Cytochrome P450 1A1 (CYP1A1) is the cell's primary weapon against polycyclic aromatic hydrocarbons (PAHs)() — but also the enzyme that converts those compounds into reactive, DNA-damaging epoxides. Whether CYP1A1 is protective or dangerous depends on whether Phase II enzymes (like glutathione S-transferases) are...

rs1051298 3'UTR variant in the folate transporter gene affecting pemetrexed toxicity risk and potentially SLC19A1 expression

Chromosome 21 Risk Allele A Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Drug Metabolism, Chemotherapy, Cancer Treatment

SLC19A1, also known as the reduced folate carrier 1 (RFC1), is the primary membrane transporter responsible for moving folate() and antifolate drugs across cell membranes. Every cell in your body depends on this transporter to import 5-methyltetrahydrofolate (5-MTHF), the active form of folate used in the...

rs10885122 Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor expression in pancreatic beta cells, influencing cAMP levels, insulin granule docking, and fasting glucose

Chromosome 10 Risk Allele G Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Pancreatic Beta Cell, Fasting Glucose, Cardiovascular, Metabolic

When your body is under stress, adrenaline floods the bloodstream and blood glucose rises sharply — a survival adaptation that makes energy available for fight or flight. One mechanism behind this glucose surge is the alpha-2A adrenergic receptor (ADRA2A) on pancreatic beta cells, which acts as a brake on insulin...

rs10895816 Intronic variant in the AMPA glutamate receptor gene GRIA4 associated with restless legs syndrome risk via hyperglutamatergic thalamic excitability

Chromosome 11 Risk Allele A Category Neurology & Cognition Tags Neurotransmitters, Sleep, Neurological Risk, Brain Health, Sensory Processing, Arousal

Most people picture restless legs syndrome (RLS) as a problem of dopamine — the neurotransmitter that governs movement and reward. The clinical reality is more complex. In RLS, the brain's excitatory wiring is equally implicated: glutamate, the primary fast-excitatory neurotransmitter, appears to be chronically...

rs1142345 No-function variant causing deficient thiopurine methylation; most common TPMT deficiency allele in East Asian and African populations

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

TPMT (thiopurine S-methyltransferase) is the primary enzyme responsible for inactivating thiopurine drugs(https://pubmed.ncbi.nlm.nih.gov/30348537/). The TPMT3C variant (rs1142345) is a no-function allele(https://pubmed.ncbi.nlm.nih.gov/8755962/) that accounts for over 95% of TPMT deficiency cases in East Asian...

rs115161931 Independent CTSS-locus GWAS signal for atopic dermatitis on chromosome 1q21.3; T allele associated with OR 1.18 for eczema risk through altered cathepsin S expression in antigen-presenting cells and PAR2-driven itch signalling

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

Cathepsin S(https://pubmed.ncbi.nlm.nih.gov/8612130/) sits at an unusual intersection: it is both an essential engine of adaptive immunity and, when expressed at elevated levels in the skin, a direct trigger of itch. A large-scale genome-wide association study meta-analysis identified rs115161931 as one of three...

rs1152003 PPARG 3'-flanking region variant — the G allele independently tags a PPARG regulatory haplotype associated with altered TZD (thiazolidinedione) insulin-sensitizing drug response and modified type 2 diabetes risk in lifestyle intervention cohorts

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Adipogenesis, Diabetes, Insulin Resistance, Fat Metabolism, Drug Response, Energy Metabolism

The PPARG gene encodes Peroxisome Proliferator-Activated Receptor Gamma(https://www.ncbi.nlm.nih.gov/gene/5468), the protein that coordinates fat cell formation, whole-body insulin sensitivity, and adipokine secretion. rs1152003 sits in the 3'-flanking region of PPARG — not within a coding exon, but in a regulatory...

rs11570112 Pathogenic truncating variant in cardiac myosin-binding protein C causing haploinsufficiency; heterozygous carriers develop hypertrophic cardiomyopathy through sarcomere dysfunction from reduced functional cMyBP-C levels

Chromosome 11 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Carrier Status, Arrhythmia, Fibrosis

The heart's ability to contract and relax is governed by molecular machines called sarcomeres — the repeating structural units of cardiac muscle fibers. One of their key regulatory proteins is cardiac myosin-binding protein C (cMyBP-C)(https://pubmed.ncbi.nlm.nih.gov/35224729/). The rs11570112 variant — a C-to-T...

rs11605924 Circadian clock gene variant affecting fasting glucose, hepatic lipid metabolism, and seasonal metabolic responses

Chromosome 11 Risk Allele A Category Hormones & Sleep Tags Circadian, Sleep, Diabetes, Insulin, Metabolism, Diet

Cryptochrome 2 (CRY2) is a core component of the molecular circadian clock(https://www.genecards.org/cgi-bin/carddisp.pl?gene=CRY2). Like its partner CRY1, CRY2 acts as a transcriptional repressor that shuts down the CLOCK:BMAL1 complex — but CRY2 has a distinct role in metabolism. The rs11605924 variant was...

rs12044149 Regulatory variant upstream of the IL-23 receptor gene more strongly associated with psoriatic arthritis than cutaneous psoriasis alone, implicating distinct Th17 signaling at the joint versus skin interface

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Tags Autoimmune, Arthritis, Psoriasis, Inflammation, Immune & Autoimmune, JAK-STAT Signaling

The IL23R(https://www.ncbi.nlm.nih.gov/gene/149233) gene has yielded multiple independent susceptibility variants for psoriatic disease, and rs12044149 is one of the most instructive. Unlike the well-known intronic IL23R variants that associate broadly with psoriasis, psoriatic arthritis, and inflammatory bowel...