Research — GeneOps

rs1049793 DAO structural variant near the catalytic domain affecting histamine degradation

Chromosome 7 Risk Allele G Category Methylation & Detox Tags Histamine, Food Sensitivity, Detoxification

The His645Asp | Histidine to aspartic acid at position 645 variant (rs1049793) is the third major functional variant in the AOC1 gene encoding diamine oxidase. This missense mutation replaces histidine with aspartic acid at position 645, which sits near the enzyme's catalytic domain. The Mechanism Position 645 is in...

rs1058164 Synonymous CYP2D6 variant that promotes exon 3 skipping, reducing functional enzyme expression by ~50% and affecting metabolism of ~25% of prescription drugs

Chromosome 22 Risk Allele C Category Pharmacogenomics Tags Pharmacogenomics, Drug Metabolism, Antidepressants, Pain Medication, Mental Health

Inside every liver cell, the CYP2D6 enzyme quietly processes roughly 25% of the prescription drugs on the market — from antidepressants to opioid pain relievers to antipsychotics and beta-blockers. The rs1058164 variant looks unremarkable on paper: it is a synonymous change in exon 3 of CYP2D6, where valine remains...

rs10882283 5' UTR variant in RBP4 that influences expression of retinol binding protein 4, an adipokine associated with insulin resistance and type 2 diabetes susceptibility when elevated

Chromosome 10 Risk Allele C Category Fat Storage & Energy Tags Insulin Resistance, Diabetes, Vitamin A, Adipogenesis, Metabolic, Obesity

Retinol binding protein 4 (RBP4) is best known as the liver's chauffeur for vitamin A: it binds retinol in the bloodstream and ferries it to tissues that need it. But in 2005, Barbara Kahn's laboratory at Harvard made a striking discovery — RBP4 is also secreted by fat...

rs10889160 Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduced epoxyeicosatrienoic acid (EET) production and increased myocardial infarction risk through impaired cardioprotective vasodilation

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Tags Cardiovascular, Inflammation, Heart Disease, Arrhythmia, Omega-3, Lipid Metabolism

Deep within cardiomyocytes and the endothelial cells lining coronary arteries, an enzyme quietly converts arachidonic acid into a family of potent lipid mediators called epoxyeicosatrienoic acids (EETs)(https://pubmed.ncbi.nlm.nih.gov/33716791/). CYP2J2 (cytochrome P450 family 2, subfamily J, member 2) is the...

rs10889677 3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — the A allele elevates IL-23 receptor expression and is associated with ankylosing spondylitis, inflammatory bowel disease, and rheumatoid arthritis susceptibility; the C allele was independently associated with Graves' ophthalmopathy in a Caucasian cohort

Chromosome 1 Risk Allele A Category IBD & Mucosal Immunity Tags Autoimmune, Inflammation, IBD, Arthritis, Eye Health, Immune & Autoimmune

IL23R(https://www.ncbi.nlm.nih.gov/gene/149233) encodes the receptor subunit that binds interleukin-23 — the cytokine that drives Th17 cell differentiation(https://pubmed.ncbi.nlm.nih.gov/29198991/), a cell population central to chronic autoimmune inflammation in the gut, joints, eyes, and skin. The rs10889677...

rs11037909 Intronic EXT2 variant associated with a modest increase in type 2 diabetes susceptibility; the C allele impairs heparan sulfate-mediated insulin signaling in adipose tissue and pancreatic beta-cells.

Chromosome 11 Risk Allele C Category Appetite & Obesity Tags Diabetes, Insulin Resistance, Pancreatic Beta Cell, Energy Metabolism, Metabolic Health, Obesity

EXT2 is best known as the gene mutated in hereditary multiple exostoses — a skeletal disorder causing abnormal cartilage-capped bony outgrowths. But in 2007, a French genome-wide association study surprised researchers by linking the EXT2-ALX4 chromosomal region to type 2 diabetes...

rs11079788 Intronic regulatory variant in TBX21 that influences T-bet expression and Th1/Th2 immune balance; the minor T allele is associated with elevated regulatory T-cell markers and reduced early-childhood atopic dermatitis risk, while the common C allele is linked to lower CD4+CD25+ Treg frequency and higher susceptibility to atopic disease

Chromosome 17 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, T-Cell Regulation, Inflammation, Autoimmune, Immune Response, Skin Health

T-bet(https://pubmed.ncbi.nlm.nih.gov/15604153/) is one of the most important switches in adaptive immunity. When T-bet is expressed robustly, the immune system generates IFN-γ-producing Th1 responses calibrated for intracellular pathogens. When T-bet activity is reduced — whether by disease, environment, or...

rs1108086 An FTO intron-8 variant in the same haplotype block as rs1420318, with emerging associations with bone mineral density and alcohol dependence susceptibility; distinct from the primary intron-1 obesity cluster

Chromosome 16 Risk Allele C Category Fitness & Body Tags Fat Metabolism, Obesity, Bone Health

The FTO (fat mass and obesity-associated) gene spans more than 400 kilobases on chromosome 16, containing nine exons and multiple functionally distinct intronic regions. The well-known FTO obesity signal resides in intron 1 (rs9939609, rs1421085), but rs1108086 sits in a completely different part of the gene —...

rs11206244 Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metabolism and T3/T4 ratio

Chromosome 1 Risk Allele T Category Hormones & Sleep Tags Thyroid, Hormones, Metabolism, Cardiovascular, Drug Response

Your body maintains thyroid hormone balance through a carefully orchestrated system of activation and inactivation. Type 1 deiodinase(https://pubmed.ncbi.nlm.nih.gov/21730168/) (D1) is one of three enzymes that regulate this process, converting the inactive thyroid hormone T4 into active T3, while also clearing...

rs1136410 Missense variant in the PARP1 catalytic domain that reduces enzymatic activity by ~40%, impairing DNA single-strand break repair and altering NAD+ consumption dynamics

Chromosome 1 Risk Allele G Category Longevity & Aging Tags DNA Repair, NAD+ Metabolism, Longevity, Oxidative Stress, Cancer Risk

Every day your cells accumulate thousands of DNA single-strand breaks from oxidative stress, replication errors, and environmental exposures. PARP1 (Poly ADP-Ribose Polymerase 1) is the enzyme that detects these breaks and coordinates their repair — and it consumes NAD+ as fuel for every repair event it performs....