Research — GeneOps

rs2228145 Missense variant in the IL-6 receptor that increases receptor shedding and enhances IL-6 trans-signaling; the C allele (358Ala) is paradoxically protective for coronary heart disease but increases risk for asthma and allergic disease, and predicts differential response to tocilizumab

Chromosome 1 Risk Allele C Category Allergy & Atopic Disease Tags Autoimmune, Asthma, Inflammation, Cardiovascular, Biologic Therapy, Immune Response

The interleukin-6 receptor is one of the most clinically targeted proteins in modern medicine. IL-6 sits at the center of the acute-phase immune response, coordinating everything from C-reactive protein production to T cell differentiation. The Asp358Ala missense variant — a single amino acid swap from aspartate to...

rs306960 Intronic variant in PTK2 (focal adhesion kinase) linked to restless legs syndrome through disrupted neuronal circuit development and sensory-motor signaling

Chromosome 8 Risk Allele T Category Neurology & Cognition Tags Brain Health, Sensory Processing, Neurological Risk, Sleep, Pain Sensitivity

The urge to move that defines restless legs syndrome (RLS) — the uncomfortable crawling, pulling, or aching sensations that compel constant leg movement, particularly at rest and in the evening — affects up to 10% of adults and is one of the most heritable common neurological conditions known. rs306960, an intronic...

rs326124 Intronic MTRR variant associated with colorectal cancer survival in interaction with alcohol consumption

Chromosome 5 Risk Allele A Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine, Colorectal Cancer, Methylation & Detox

Methionine synthase reductase (MTRR) keeps the one-carbon methylation cycle running by reactivating methionine synthase (MTR) after oxidative inactivation. When MTRR function is reduced — whether by the well-studied coding variant rs1801394 A66G(https://pubmed.ncbi.nlm.nih.gov/10444342/) or by regulatory effects...

rs368234815 Causal frameshift polymorphism controlling IFNL4 protein production; the ΔG allele creates functional interferon lambda 4 which paradoxically impairs hepatitis C clearance

Chromosome 19 Risk Allele D Category Pharmacogenomics Tags Immune & Antiviral, Hepatitis C, Interferon, Pharmacogenomics, Viral Clearance, HCV Treatment

Interferon lambda 4(https://www.nature.com/articles/ng.2521) is one of biology's great counterintuitive discoveries: a protein that belongs to the antiviral interferon family yet actively impairs the body's ability to clear a specific virus — hepatitis C (HCV). The rs368234815 polymorphism (originally designated...

rs397514580 Pathogenic glucokinase missense variant causing maturity-onset diabetes of the young type 2 (MODY2) — lifelong mild fasting hyperglycemia that rarely requires treatment and is frequently misdiagnosed as type 1 or type 2 diabetes

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Metabolic Health, Genetic Counseling, Energy Metabolism, Carrier Status

Glucokinase (GCK) is the pancreatic beta cell's glucose sensor — it detects rising blood sugar and triggers insulin release to bring it back down. In people with one functional copy of GCK, the sensor's threshold is permanently shifted upward, so the body defends a mildly elevated glucose set-point instead of a...

rs4446909 Final enzyme in melatonin synthesis; promoter variant reduces ASMT expression and lowers melatonin production, affecting sleep onset and circadian rhythm

Chromosome X Risk Allele G Category Hormones & Sleep Tags Sleep, Melatonin, Circadian, Neurotransmitters, Methylation

The ASMT gene encodes acetylserotonin O-methyltransferase(), the enzyme that catalyzes the final step in melatonin biosynthesis(). Without functional ASMT, your body cannot complete the conversion of serotonin-derived intermediates into melatonin -- the hormone that signals darkness to your brain, lowers core body...

rs5082 Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consuming more than 22g saturated fat daily have 84% higher obesity odds than AA/AG carriers

Chromosome 1 Risk Allele G Category Triglycerides & Fatty Acids Tags Fat Metabolism, Diet, Obesity, Cardiovascular, Cholesterol, Triglycerides

Apolipoprotein A-II is the second most abundant protein in HDL particles(https://pmc.ncbi.nlm.nih.gov/articles/PMC9313276/), the particles traditionally associated with cardiovascular protection. Yet ApoA-II's role extends well beyond lipid transport — it appears to act as a postprandial satiety...

rs6809631 Intronic PPARG promoter tagSNP associated with modest reduction in type 2 diabetes risk — co-identified with rs9817428 in the WHI postmenopausal cohort and located within the master regulator of adipogenesis and insulin sensitivity

Chromosome 3 Risk Allele A Category Fat Storage & Energy Tags Adipogenesis, Diabetes, Insulin Resistance, Metabolic, Fat Metabolism, Diet

PPARG (Peroxisome Proliferator-Activated Receptor Gamma()) is one of the most clinically significant metabolic genes in the human genome. rs6809631 is an intronic variant located within the PPARG promoter region — a stretch of regulatory DNA that controls how much PPARG protein the cell produces. Variants here can...

rs7895833 Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and oxidative stress protection

Chromosome 10 Risk Allele G Category Longevity & Aging Tags Mental Health, Neurotransmitters, Cardiovascular, Oxidative Stress, Longevity, Neuroprotection

SIRT1 (Sirtuin 1) is a NAD-dependent deacetylase(https://pubmed.ncbi.nlm.nih.gov/40663020/) with profound influence on aging, metabolism, neuroprotection, and mental health. The sirtuin SIRT1 is expressed throughout the body, has broad biological effects and can significantly affect both cellular survival and...

rs2240032 Intronic RAD50 variant in the Th2 locus control region (RHS7); T allele alters SMAD3 and SP1 transcription factor binding, shifts DNA methylation at the IL13 promoter in cord blood, and is associated with elevated total IgE levels and atopic disease risk.

Chromosome 5 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Epigenetics, Immune System, Inflammation, Lung Health, Immune & Autoimmune

Most people are surprised to learn that the gene controlling their allergic immune tone is partly located inside a DNA repair enzyme. The RAD50 gene(https://pubmed.ncbi.nlm.nih.gov/15608641/) spans a stretch of chromosome 5q31 that also functions as the master volume control for three of the most important allergy...