Research — GeneOps

rs6814664 Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorption; the C allele is associated with higher serum uric acid and elevated gout risk, with substantially stronger effects in women; the T allele confers modestly reduced urate and partial gout protection

Chromosome 4 Risk Allele C Category Blood Sugar & Diabetes Tags Gout, Uric Acid, Kidney Function, Cardiovascular, Metabolic Syndrome

Your kidneys filter about 700 mg of uric acid daily, reabsorbing most of it back into the bloodstream. The SLC2A9 gene encodes GLUT9(https://pubmed.ncbi.nlm.nih.gov/18327257/) — the protein responsible for setting your urate "baseline." The rs6814664 CT variant sits within an intron of SLC2A9 and does not change the...

rs71748309 Complete deletion of the GSTT1 gene eliminating glutathione conjugation capacity for industrial solvents and certain carcinogens

Chromosome 22 Risk Allele D Category Methylation & Detox Tags Detoxification, Glutathione, Phase II, Methylation & Detox, Cancer Risk, Environmental Toxins, Xenobiotics, Carcinogen Metabolism, NRF2 Target

In roughly one in five people of European descent — and nearly half of East Asians — the GSTT1 gene is completely absent(https://pubmed.ncbi.nlm.nih.gov/22643671/). Not mutated. Not damaged. Simply deleted from the genome entirely. This isn't a typo in your genetic code; it's a common polymorphism that eliminates an...

rs9394502 Intronic variant in the canonical restless legs syndrome gene BTBD9, associated with insomnia and RLS susceptibility via iron-dependent dopaminergic regulation in the brain

Chromosome 6 Risk Allele T Category Hormones & Sleep Tags Sleep, Iron, Dopamine, Neurological Risk, Circadian

BTBD9 encodes a BTB/POZ domain-containing protein(https://www.ncbi.nlm.nih.gov/gene/114781) that controls how quickly certain proteins are cleared from cells. In the brain, BTBD9 appears to regulate iron homeostasis in dopaminergic pathways — the same system responsible for dopamine signalling in motor circuits and...

rs3771166 GABRIEL Consortium lead GWAS SNP at the IL1RL1/IL18R1 locus on chromosome 2q12; G risk allele increases asthma susceptibility (OR 1.15, p=3×10⁻⁹) by tagging regulatory variation affecting IL-18 receptor and ST2 expression in type 2 immune responses

Chromosome 2 Risk Allele G Category Allergy & Atopic Disease Tags Asthma, Inflammation, Autoimmune, Innate Immunity, Respiratory Infections, Immune System

When the GABRIEL Consortium published the largest asthma genome-wide association study of its era in 2010, one of the five genome-wide significant signals landed squarely on chromosome 2q12 — a dense cluster of interleukin-1 receptor family genes including IL1RL1 (ST2)(https://pubmed.ncbi.nlm.nih.gov/20860503/) and...

rs55785340 Missense variant reducing CYP3A4-mediated nifedipine clearance, causing elevated exposure to statins and other CYP3A4 substrates in heterozygous carriers

Chromosome 7 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Statins, Cardiovascular, Immunosuppressants, Ancestry-Specific

CYP3A4 is the most important drug-metabolizing enzyme in the human body, responsible for the first-pass and systemic clearance of approximately 50% of all prescribed medications. When you swallow a statin, an immunosuppressant, or a benzodiazepine, CYP3A4 in your liver and intestinal wall is the primary enzyme that...

rs61734410 Missense variant in CACNA1H encoding the CaV3.2 T-type calcium channel; the Leu640 allele has population-level associations with migraine risk and alters channel pharmacodynamics, set against a backdrop of CaV3.2's established role in hippocampal memory consolidation and synaptic plasticity.

Chromosome 16 Risk Allele T Category Neurology & Cognition Tags Cognition, Memory, Neuroplasticity, Migraine, Calcium, Brain Health

Every time you form a new memory, a precise choreography of ion channels must activate in hippocampal neurons at the right moment. The CaV3.2 channel(https://www.ncbi.nlm.nih.gov/gene/8912) is one of the key players in this process. Unlike the high-voltage-activated L-type channels that require strong...

rs6815001 Intronic variant in the major renal urate transporter; the G allele tags a haplotype associated with reduced urate excretion and elevated serum uric acid, while the C allele is protective; this is an independent signal at the SLC2A9 locus distinct from the Arg265His missense variant (rs3733591)

Chromosome 4 Risk Allele G Category Blood Sugar & Diabetes Tags Gout, Uric Acid, Kidney Function, Insulin Resistance, Metabolic Syndrome, Cardiovascular

Your kidneys filter roughly 700 mg of uric acid per day, and the dominant genetic determinant of how efficiently they do so is the SLC2A9 gene. Most people have heard of gout as a dietary problem — too much red meat, too much beer — and diet does matter. But for individuals carrying risk variants at SLC2A9, the...

rs7946 Phosphatidylcholine production — affects dietary choline requirements

Chromosome 17 Risk Allele T Category Methylation & Detox Tags Methylation, Folate, B Vitamins, Diet

PEMT (phosphatidylethanolamine N-methyltransferase) is an enzyme in the liver that produces phosphatidylcholine | A major component of cell membranes and bile, essential for fat transport from the liver (PC) from phosphatidylethanolamine using three sequential methylation reactions. Phosphatidylcholine is a critical...

rs9479402 Intergenic variant ~54 kb downstream of the VIP gene; the C allele reduces VIP signaling capacity in the suprachiasmatic nucleus and is associated with evening preference and delayed sleep timing

Chromosome 6 Risk Allele C Category Hormones & Sleep Tags Circadian, Chronotype, Sleep, Hormones, Brain Health, Neurotransmitters

Deep in the hypothalamus, a cluster of roughly 20,000 neurons called the suprachiasmatic nucleus (SCN)() orchestrates the timing of nearly every biological rhythm in the body. These neurons don't just keep time independently — they must continuously synchronize with each other to produce a coherent, high-amplitude...

rs3771175 A 3'-UTR variant in IL1RL1 (the ST2 receptor gene); the A allele increases ST2 expression and is associated with reduced allergic rhinitis risk, making it a protective counterpart to the primary IL-33/ST2 signaling axis variants at this locus

Chromosome 2 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Innate Immunity, Autoimmune, Biologic Therapy, Lung Health

The IL-33/ST2 signaling axis sits at the center of allergic disease biology. IL-33, an alarmin cytokine(https://pubmed.ncbi.nlm.nih.gov/27699235/) released during allergen exposure or viral infections, binds the ST2 receptor encoded by IL1RL1 on chromosome 2. IL1RL1 also generates a second splice form — soluble sST2...