Research — GeneOps

rs2872507 17q21 regulatory variant in the IKZF3-ORMDL3-GSDMB locus with opposite effects — risk for autoimmune diseases (RA, Crohn's, Graves') but protective for asthma

Chromosome 17 Risk Allele A Category Allergy & Atopic Disease Tags Autoimmune, Inflammation, Immune System, Asthma, Crohn's Disease, Type 1 Diabetes

The chromosome 17q21 region is one of the most intensively studied loci in immunogenetics. A dense block of over 130 SNPs in strong linkage disequilibrium spans six genes — IKZF3, ZPBP2, GSDMB, ORMDL3, LRRC3C, and GSDMA — and has been independently associated with asthma, rheumatoid arthritis, Crohn's disease, type...

rs3851179 Variant in the PICALM gene affecting amyloid-beta clearance across the blood-brain barrier and Alzheimer's disease risk

Chromosome 11 Risk Allele C Category Neurology & Cognition Tags Alzheimer's, Neurological Risk, Cardiovascular

The PICALM gene(https://pubmed.ncbi.nlm.nih.gov/36552756/). Located on chromosome 11q14.2, PICALM is expressed most abundantly in brain microvessels—the endothelial cells forming the blood-brain barrier—where it plays a central role in clearing toxic amyloid-beta (Aβ) peptides from the brain. The rs3851179 variant,...

rs4244285 No-function CYP2C19 variant affecting PPIs, clopidogrel, and some antidepressants

Chromosome 10 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Blood Thinners, Proton Pump Inhibitors, Antidepressants

CYP2C19 is a drug-metabolizing enzyme with enormous clinical significance, particularly for the antiplatelet drug clopidogrel (Plavix). The 2 allele| rs4244285 is the most common loss-of-function variant, rendering the enzyme completely non-functional. This variant carries an FDA black-box...

rs4684059 Intronic variant in the histamine H1 receptor gene associated with altered receptor expression and histamine sensitivity

Chromosome 3 Risk Allele C Category Methylation & Detox Tags Histamine, Food Sensitivity, Inflammation, Pharmacogenomics, Immune Function

The histamine H1 receptor (HRH1) sits at the front line of the allergic response. When mast cells and basophils release histamine — triggered by allergens, infections, certain foods, or stress — H1R is the molecular switch that converts that signal into the familiar cascade of sneezing, itching, swollen tissue, and...

rs6017340 Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation through modified HNF4A-driven CYP7A1 expression; linked to primary biliary cholangitis progression in a single Japanese cohort study

Chromosome 20 Risk Allele C Category Blood Sugar & Diabetes Tags Liver Health, Liver Disease, Liver, Energy Metabolism, Metabolic, Cholesterol

The liver performs hundreds of metabolic tasks simultaneously, and one of the most consequential is converting cholesterol into bile acids — detergent-like molecules that emulsify dietary fat and carry metabolic waste out of the body. This process is tightly regulated, because too little bile acid impairs digestion...

rs700518 Synonymous variant in aromatase gene affecting estrogen production, bone density, and response to aromatase inhibitors

Chromosome 15 Risk Allele T Category Hormones & Sleep Tags Hormones, Estrogen, Bone Health, Breast Cancer, Drug Metabolism

The CYP19A1 gene encodes aromatase, the enzyme responsible for converting androgens into estrogens in the final step of estrogen biosynthesis. Located on chromosome 15q21.1(https://www.ncbi.nlm.nih.gov/gene/1588), aromatase is expressed in gonads, adipose tissue, bone, breast, and brain. The rs700518 variant is a...

rs99780 Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase activity and the efficiency of converting linoleic acid and alpha-linolenic acid into long-chain omega-6 and omega-3 fatty acids

Chromosome 11 Risk Allele T Category Triglycerides & Fatty Acids Tags Omega-3, Fat Metabolism, Cardiovascular, Inflammation, Diet, Micronutrients

The FADS2 gene encodes delta-6 desaturase(), the enzyme that performs the first critical step in converting the essential fats you eat — linoleic acid (omega-6) from vegetable oils and alpha-linolenic acid (omega-3) from flaxseed and walnuts — into longer, more biologically active forms such as arachidonic acid...

rs28730619 Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma risk; homozygotes carry ~60% higher relative risk, linked to impaired S-nitrosothiol homeostasis and airway hyperresponsiveness

Chromosome 4 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, Inflammation, Nitric Oxide, Lung Health, Oxidative Stress, Detoxification

Deep in the airways, a molecular balancing act governs whether bronchial smooth muscle stays relaxed or tightens toward an asthma attack. One of the key players is ADH5 — formally S-nitrosoglutathione reductase (GSNOR) — an enzyme that degrades S-nitrosoglutathione (GSNO)(https://pubmed.ncbi.nlm.nih.gov/19395503/),...

rs3865444 Promoter-region variant that modulates CD33 expression on microglia — the protective A allele reduces surface CD33, enhancing microglial clearance of amyloid-beta and conferring modest protection against late-onset Alzheimer's disease

Chromosome 19 Risk Allele C Category Neurology & Cognition Tags Alzheimer's, Neuroinflammation, Neurodegeneration, Cognitive Decline, Immune Function, Brain Health

The brain's immune cells — microglia(https://pubmed.ncbi.nlm.nih.gov/23623698/) — are responsible for patrolling the brain and clearing misfolded protein aggregates, including amyloid-beta (Aβ) plaques. How well they do this job depends in part on the proteins on their surface. CD33 (also known as Siglec-3) is one...

rs4646438 Frameshift insertion in CYP3A4 exon 9 that produces a truncated, non-functional enzyme — carriers have essentially no CYP3A4 activity from this allele, making them poor metabolizers for tacrolimus, cyclosporine, midazolam, and ~50% of prescribed drugs

Chromosome 7 Risk Allele I Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Immunosuppressants, Transplant, Ancestry-Specific, Phase I

CYP3A4 is the single most important enzyme for drug metabolism in the human body. Sitting at the gateway between the gut and the bloodstream — in the intestinal wall and liver — it processes approximately 30–50% of all clinically prescribed medications(https://pubmed.ncbi.nlm.nih.gov/39650550/). Immunosuppressants...