Research — GeneOps

rs2675703 Missense variant (Pro10Leu) in melanopsin, the photopigment driving circadian photoentrainment; TT carriers show altered light-signaling amplitude and elevated seasonal affective disorder risk

Chromosome 10 Risk Allele T Category Hormones & Sleep Tags Circadian, Sleep, Mood, Melatonin, Depression

Melanopsin is the photopigment that makes you a social animal of time. Unlike the rod and cone photoreceptors that handle vision, melanopsin sits in a specialized subset of retinal ganglion cells — intrinsically photosensitive retinal ganglion cells (ipRGCs)(https://pubmed.ncbi.nlm.nih.gov/29718372/) — and has one...

rs2959272 Intronic PPARG variant significantly associated with individual variation in body weight reduction during calorie restriction; G allele also linked to elevated plasma renin activity, suggesting altered PPARγ-mediated adipose-renin axis signalling

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Fat Metabolism, Adipogenesis, Diet, Energy Metabolism, Obesity, Metabolic Health

PPARG(https://www.ncbi.nlm.nih.gov/gene/5468) encodes PPARγ, the protein that determines how vigorously the body creates new fat cells and how efficiently existing adipocytes respond to insulin. rs2959272 sits in an intronic region of the gene at chromosome 3, position 12,401,334 (GRCh38). It was among six PPARG...

rs3135506 Triglyceride metabolism - affects fasting triglyceride levels and cardiovascular risk

Chromosome 11 Risk Allele C Category Triglycerides & Fatty Acids Tags Triglycerides, Cardiovascular, Fat Metabolism, Diet

APOA5 (Apolipoprotein A5) plays a key role in regulating triglyceride levels. Discovered in 2001(https://pubmed.ncbi.nlm.nih.gov/11588264/) through comparative sequencing of the APOA1/C3/A4 gene cluster, APOA5 was found to strongly influence plasma triglyceride concentrations in both humans and mice. The Mechanism...

rs3758391 Promoter-region variant in SIRT1 affecting deacetylase expression; T allele elevates SIRT1 levels and is associated with better cognition but increased metabolic and cancer risk; C allele is the common protective form

Chromosome 10 Risk Allele T Category Longevity & Aging Tags Longevity, Aging, Oxidative Stress, Neuroprotection, NAD+ Metabolism, Insulin Resistance

SIRT1 (Sirtuin 1) is often called the master regulator of aging biology. This NAD+-dependent protein deacetylase(https://pubmed.ncbi.nlm.nih.gov/17895433/) coordinates DNA repair, inflammation suppression, mitochondrial biogenesis, insulin sensitivity, and stress resistance across virtually every tissue. rs3758391...

rs4341 Tag SNP for the ACE insertion/deletion polymorphism — the C allele tracks the insertion (lower ACE activity, endurance advantage) and the G allele tracks the deletion (higher ACE activity, power/strength advantage)

Chromosome 17 Risk Allele G Category Fitness & Body Tags Fitness, Endurance, Sprint & Power, Cardiovascular, Altitude Training, Muscle

The angiotensin-converting enzyme() gene is home to one of the most studied variants in the history of exercise genetics. The ACE insertion/deletion (I/D) polymorphism — a 287-base-pair Alu repeat sequence in intron 16 — determines circulating and tissue ACE activity in a dose-dependent manner: the D allele drives...

rs4855559 Intronic variant in the myosin heavy chain 15 gene associated with impaired coronary microvascular function and abnormal coronary flow reserve in men (OR 2.27)

Chromosome 3 Risk Allele T Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Endothelial Health, Heart Disease, Nitric Oxide, Anxiety

The small arteries and capillaries that feed heart muscle — the coronary microcirculation(https://pubmed.ncbi.nlm.nih.gov/24736300/) — are increasingly recognized as a distinct site of cardiovascular disease. Unlike the large coronary arteries that atherosclerosis typically affects, microvascular dysfunction...

rs61735836 Missense variant in the FTCD enzyme that impairs one-carbon unit transfer from histidine catabolism into the folate pool, reducing arsenic methylation efficiency and increasing toxicity risk

Chromosome 21 Risk Allele T Category Vitamins & Nutrient Absorption Tags Methylation, Folate, B Vitamins, Detoxification, Diet

Every amino acid you eat is eventually broken down. When your body catabolizes histidine, the final two steps of the pathway are handled by a single bifunctional enzyme — formimidoyltransferase cyclodeaminase (FTCD)(https://pubmed.ncbi.nlm.nih.gov/30893314/). What makes this enzyme unusual is where its product goes:...

rs6519605 Intergenic variant on chromosome 22q11 (merged into rs133255) located downstream of a lncRNA in the immunoglobulin lambda gene cluster region; listed as a 22q11.21 region variant co-identified with TBX1 AIS susceptibility locus rs1978060

Chromosome 22 Risk Allele C Category Innate Immunity & Infection Defense Tags Innate Immunity, Immune System, T-Cell Regulation, Infection Risk, Embryo Development

The rsid rs6519605 was merged into rs133255 in dbSNP Build 117 (2003) and refers to a common variant on chromosome 22 at GRCh38 position 25,411,342 — a region of the genome densely populated by immunoglobulin lambda (IGL) gene segments(https://www.ncbi.nlm.nih.gov/gene/3574). This SNP was identified in the GeneOps...

rs673548 Intronic APOB variant associated with modest differences in apolipoprotein B levels, cardiovascular risk, and ischemic stroke susceptibility across populations.

Chromosome 2 Risk Allele G Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Fat Metabolism, Statins

Apolipoprotein B (APOB) is the primary protein component of low-density lipoprotein (LDL) particles. Every LDL particle contains exactly one APOB-100 molecule, which acts as the structural backbone and also serves as the ligand that allows LDL to bind LDL receptors on liver and other cells. Higher plasma APOB...

rs7025486 Intronic variant in DAB2IP associated with increased risk of abdominal aortic aneurysm, myocardial infarction, and peripheral arterial disease through impaired Ras-GTPase regulation and enhanced vascular inflammation

Chromosome 9 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Inflammation, Angiogenesis, Tumor Suppressor, Heart Disease

Your aorta — the body's largest artery — depends on a delicate balance between cellular growth, inflammation, and structural integrity. DAB2IP (DAB2 Interacting Protein) is a Ras GTPase-activating protein(https://www.ncbi.nlm.nih.gov/gene/153090) and simultaneously restrains NF-κB-driven inflammation. When DAB2IP...