Research — GeneOps

rs1800795 Promoter variant controlling interleukin-6 expression — affects inflammation, exercise recovery, and cardiovascular risk

Chromosome 7 Risk Allele G Category Fitness & Body Tags Inflammation, Cardiovascular, Fitness, Exercise Recovery, Diabetes

Interleukin-6 (IL-6) is one of the most versatile signalling molecules in the human body. Produced by immune cells, fat tissue, and — critically — by working skeletal muscle, it acts as both a pro-inflammatory cytokine() and an anti-inflammatory myokine(). The -174G/C promoter variant (rs1800795) sits 174 base pairs...

rs1831281 Intronic CFH variant that tags the complement-risk haplotype; the C allele (common, ~80% in Europeans) marks impaired complement regulation driving AMD and systemic inflammation, while the T allele is protective

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Tags Complement System, Eye Health, Inflammation, Cardiovascular, Immune System, Aging

The complement factor H gene (CFH) on chromosome 1q31.3 is one of the most well-studied genetic determinants of age-related macular degeneration (AMD) — the leading cause of irreversible blindness in adults over 65. rs1831281 is an intronic variant at position 196,711,684 (GRCh38) in intron 10 of CFH, annotated at...

rs2069837 Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB — the G allele lowers IL-6 signalling but is less common in long-lived individuals

Chromosome 7 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, Inflammation, Cardiovascular, Alzheimer's, Neuroinflammation

Interleukin-6 is the cytokine most consistently elevated in older adults — a key driver of inflammaging(). Within the IL6 gene lies a lesser-known intronic variant, rs2069837, whose effect on aging biology is not what you might expect: rather than directly changing IL-6 protein structure or promoter activity, it...

rs2228314 Missense variant in the master cholesterol transcription factor SREBP-2 that alters the SCAP-binding regulatory domain and is associated with cardiovascular disease risk and altered cholesterol homeostasis.

Chromosome 22 Risk Allele C Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, LDL Cholesterol, Lipid Metabolism, Statins, Atherosclerosis

SREBP-2 (sterol regulatory element-binding protein 2), encoded by the SREBF2 gene on chromosome 22, is the master transcription factor of cholesterol homeostasis. It directly controls expression of HMGCR(https://www.ncbi.nlm.nih.gov/gene/3156), LDLR(https://www.ncbi.nlm.nih.gov/gene/3949), and more than 30 other...

rs2241880 Autophagy gene variant affecting bacterial clearance in gut epithelial cells, strongly associated with Crohn's disease risk

Chromosome 2 Risk Allele G Category IBD & Mucosal Immunity Tags Autophagy, Diet, Immune Function, Gut Microbiome, Inflammatory Bowel Disease, Bacterial Clearance

The ATG16L1 gene provides instructions for making a protein essential to autophagy, the cellular recycling system that clears out damaged components and invading bacteria. The T300A variant(https://pubmed.ncbi.nlm.nih.gov/17200669/) and subsequently confirmed in dozens of independent cohorts worldwide. In the gut,...

rs2361502 Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated serum bilirubin and is associated with lower risk of cardiovascular disease and type 2 diabetes through bilirubin's antioxidant actions.

Chromosome 2 Risk Allele C Category Metabolic Enzymes & Rare Disorders Tags Bilirubin, Cardiovascular, Antioxidants, Liver Health, Metabolic Health

The yellowing of the skin in jaundice has made bilirubin notorious as a toxin. But at physiological concentrations, bilirubin functions as one of the body's most potent endogenous antioxidants — and your genome partly determines how much of it you carry. The rs2361502 variant in the MROH2A gene, situated directly...

rs2522833 Missense variant in the C2A calcium-binding domain of presynaptic scaffolding protein Piccolo, altering monoamine vesicle release efficiency and modulating HPA axis reactivity — associated with elevated depression risk and altered antidepressant treatment response

Chromosome 7 Risk Allele C Category Mood & Behavior Tags Depression, Mood, Neurotransmitters, HPA Axis, Antidepressants, Mental Health

Deep inside every monoaminergic synapse, an enormous scaffolding protein called Piccolo acts as the master organiser of neurotransmitter release. Piccolo(https://pubmed.ncbi.nlm.nih.gov/36436725/) is particularly critical at serotonergic and dopaminergic synapses in limbic circuits relevant to mood regulation. The...

rs267606908 Pathogenic beta-myosin heavy chain missense variant causing a hypercontractile sarcomere; heterozygous carriers (CT) have high penetrance for hypertrophic cardiomyopathy and are at significant risk for sudden cardiac death and heart failure

Chromosome 14 Risk Allele C Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Genetic Counseling, Muscle, Fibrosis

The heart's pumping power depends on the precise choreography of sarcomeric proteins — molecular motors that convert ATP into coordinated contraction. Beta-myosin heavy chain(https://pubmed.ncbi.nlm.nih.gov/23798412/) is the central force-generator of this system. rs267606908 replaces an aspartate at position 906 of...

rs28940579 Exon 10 missense variant in the inflammasome regulator pyrin; one of five founder FMF mutations, associated with moderate disease severity, high colchicine responsiveness, and lower amyloidosis risk compared to M694V — most clinically significant when homozygous or compound heterozygous with M694V

Chromosome 16 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Tags Innate Immunity, Inflammation, Autoimmune, Ancestry-Specific, Amyloidosis, Carrier Status

Familial Mediterranean fever (FMF) is an autoinflammatory disease defined by episodic, self-limiting attacks of fever and serositis — sterile inflammation of the abdominal, pleural, or pericardial lining — lasting 12 to 72 hours, then abruptly resolving. Between attacks, most patients feel well. The gene...

rs2943634 Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, HDL cholesterol, and adiponectin levels; the A allele is protective

Chromosome 2 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Heart Disease, HDL Cholesterol, Insulin Resistance, Metabolic, Inflammation

The rs2943634 variant sits in an intergenic region of chromosome 2q36.3, approximately 528 kilobases upstream of the IRS1 gene(https://www.ncbi.nlm.nih.gov/gene/3667). Despite lying outside any protein-coding sequence, rs2943634 was independently replicated in genome-wide association studies for coronary artery...