Research — GeneOps

rs1036477 Deep intronic FBN1 variant associated with larger ascending aortic dimensions and elevated risk of thoracic aortic aneurysm and dissection through altered fibrillin-1 microfibril function and dysregulated TGF-β sequestration in the aortic wall

Chromosome 15 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Connective Tissue, Extracellular Matrix, Heart Disease, Blood Pressure, Inflammation, Aortic Wall

The aorta is not a passive tube — it is a living elastic structure that expands and recoils with every heartbeat, storing energy on expansion and releasing it to sustain diastolic flow. This elasticity(https://pubmed.ncbi.nlm.nih.gov/30037098/) depends on microfibrils: rope-like protein scaffolds made primarily from...

rs1042602 Common tyrosinase variant affecting melanin production, skin pigmentation, tanning ability, freckling, and melanoma risk

Chromosome 11 Risk Allele A Category Skin & Eyes Tags Skin Pigmentation, Melanoma, Sun Sensitivity, Pigmentation Genes, Cancer Risk

Tyrosinase is the rate-limiting enzyme in melanin biosynthesis(https://medlineplus.gov/genetics/gene/tyr/), functioning as a copper-containing oxidase that converts the amino acid tyrosine into dopaquinone(https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828394/). The S192Y variant (serine to tyrosine at position 192)...

rs1042713 Beta-2 adrenergic receptor variant affecting receptor downregulation, exercise capacity, beta-agonist drug response, and cardiovascular function

Chromosome 5 Risk Allele A Category Fitness & Body Tags Fitness, Cardiovascular, Beta-Agonist, Asthma, Exercise, Drug Metabolism

The ADRB2 gene encodes the beta-2 adrenergic receptor(), one of the body's primary mediators of the fight-or-flight response. When adrenaline binds this receptor, it triggers bronchodilation (opening of airways), vasodilation (relaxation of blood vessels), increased heart rate, and lipolysis (fat breakdown). The...

rs1044250 Protective missense variant that reduces LPL inhibition, lowering fasting triglycerides in T-allele carriers

Chromosome 19 Risk Allele T Category Triglycerides & Fatty Acids Tags Triglycerides, Fat Metabolism, Cardiovascular, Diet, Cholesterol

Your fat-clearing machinery runs a little faster than average if you carry the M266 variant of ANGPTL4. This gene encodes angiopoietin-like protein 4(https://pubmed.ncbi.nlm.nih.gov/32500296/), one of the body's key brakes on the enzyme that breaks down fat in circulation. Carriers of the T allele at rs1044250 have...

rs1044317 3'UTR variant in ABCG1 that may reduce transporter expression, impairing cholesterol efflux to HDL and increasing susceptibility to coronary artery disease.

Chromosome 21 Risk Allele A Category Cholesterol & Lipoproteins Tags HDL Cholesterol, Lipid Metabolism, Cholesterol, Cardiovascular, Atherosclerosis, Macrophage

ABCG1 (ATP-binding cassette transporter G1(https://www.ncbi.nlm.nih.gov/gene/9619)) is one of two master regulators of reverse cholesterol transport — the biological system that removes excess cholesterol from artery walls and returns it to the liver for disposal. While its partner ABCA1 initiates cholesterol...

rs1044471 A common 3'UTR variant in the liver-expressed adiponectin receptor 2 gene; the T allele is associated with reduced waist circumference and lower colorectal and gastric cancer risk, while the reference C allele is linked to higher liver enzyme elevations in type 2 diabetic subjects.

Chromosome 12 Risk Allele C Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Metabolic Health, Fat Metabolism, Liver, Colorectal Cancer

Adiponectin is one of the few hormones released by fat tissue that actually protects against metabolic disease: it rises with fat loss, improves insulin sensitivity, suppresses hepatic glucose production, and drives fatty acid oxidation(https://pubmed.ncbi.nlm.nih.gov/12802337/). The receptor through which...

rs10455872 Intronic variant strongly associated with elevated lipoprotein(a) levels and significantly increased risk of coronary artery disease and aortic valve stenosis

Chromosome 6 Risk Allele G Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, Blood Thinners, Diet

The LPA gene encodes apolipoprotein(a)(https://omim.org/entry/152200), and rs10455872 is one of the most powerful genetic predictors of cardiovascular disease identified to date. Located in intron 25 of the LPA gene(https://www.ncbi.nlm.nih.gov/snp/rs10455872), this variant emerged as a genome-wide association study...

rs1046089 Missense variant in PRRC2A (HLA-B associated transcript) linked to age at natural menopause through immune-mediated oocyte depletion; the A allele may be associated with earlier menopause onset

Chromosome 6 Risk Allele A Category Fertility & Ovarian Function Tags Menopause, Ovarian Reserve, Reproductive Health, Fertility, Hormones

Buried deep in chromosome 6's major histocompatibility complex (MHC) class III region sits a gene called PRRC2A — also known as BAT2, or HLA-B Associated Transcript 2. At first glance, this immune-associated region seems an unlikely place to look for clues about reproductive lifespan. Yet a missense variant in...

rs10462020 Missense variant in circadian clock gene PER3 associated with morning chronotype preference and earlier diurnal timing

Chromosome 1 Risk Allele G Category Hormones & Sleep Tags Circadian, Sleep, Chronotype, Mood

The PER3 gene encodes Period Circadian Regulator 3(https://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3), a key protein in the molecular clock that governs your daily rhythms. While PER3's sibling PER2 is the most studied clock gene, PER3 has emerged as the Period family member with the strongest influence on...

rs1047031 3'UTR variant in the beta-defensin 1 gene that disrupts a microRNA binding site, reducing DEFB1 expression and increasing susceptibility to periodontitis and dental caries

Chromosome 8 Risk Allele T Category Dental & Oral Health Tags Dental & Oral Health, Periodontal Disease, Innate Immunity, Inflammation, Oral Microbiome

Your mouth is never sterile. Billions of bacteria live on tooth surfaces, in the gingival sulcus, and throughout the oral cavity. What keeps them from overwhelming your gums and teeth is a first line of antimicrobial defense mounted by the epithelial cells lining the gums, tongue, and salivary glands — and one of...