Research — GeneOps

rs16861194 Upstream promoter variant that reduces ADIPOQ transcription, lowering circulating adiponectin and increasing risk of type 2 diabetes under additive and dominant models

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Adipogenesis, Insulin Resistance, Metabolic Health, Metabolic Syndrome, Diabetes, Fat Metabolism

Adiponectin is often called the body's metabolic thermostat. Secreted exclusively by fat tissue, it circulates in the bloodstream and signals the liver and muscles to take up glucose, burn fatty acids, and remain sensitive to insulin. Low adiponectin is one of the most consistent laboratory findings in people with...

rs17002852 Synonymous CYP2D6 variant that causes allele dropout in standard CYP2D6*3 genotyping assays, potentially masking co-inherited non-functional alleles

Chromosome 22 Risk Allele G Category Pharmacogenomics Tags Drug Metabolism, Pharmacogenomics, Pain Medication, Drug Response

About 25% of all prescription medications are processed by the CYP2D6 enzyme — a figure that spans everything from opioids like codeine and tramadol to antidepressants, antipsychotics, beta-blockers, and tamoxifen. Accurate genotyping of CYP2D6 is therefore one of the highest-stakes tasks in clinical...

rs174575 Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing the first step of the PUFA desaturation cascade and lowering circulating EPA, DHA, and arachidonic acid while raising linoleic acid and ALA precursors

Chromosome 11 Risk Allele G Category Triglycerides & Fatty Acids Tags Omega-3, Fat Metabolism, Diet, Cardiovascular, Brain Health, Inflammation

Buried in an intron of the FADS2 gene on chromosome 11, rs174575 is one of the most studied variants in human fatty acid metabolism. FADS2 encodes delta-6 desaturase(), the rate-limiting enzyme that initiates the conversion of short-chain dietary fats into their biologically active long-chain forms. Without adequate...

rs1799941 Promoter region variant affecting sex hormone-binding globulin levels, with the A allele increasing SHBG by 15-25% and influencing free testosterone and estradiol bioavailability

Chromosome 17 Risk Allele G Category Hormones & Sleep Tags Hormones & Thyroid, Cardiovascular, Diabetes, Metabolic Syndrome, PCOS, Testosterone, Estrogen

The SHBG gene on chromosome 17 encodes sex hormone-binding globulin(https://pubmed.ncbi.nlm.nih.gov/11927624/). Only 1-2% of testosterone and estradiol circulate as "free" bioactive hormones — the rest is bound to SHBG (44%) or albumin (54%). By controlling how much hormone is bound versus free, SHBG acts as a...

rs1800764 Upstream promoter-region ACE variant on a separate LD block from the I/D polymorphism — the C allele is associated with young-onset hypertension and sits in a haplotype context linked to higher cardiovascular and renal risk independent of ACE enzyme activity

Chromosome 17 Risk Allele C Category Fitness & Body Tags Fitness, Cardiovascular, Hypertension, Kidney, Endurance, Exercise

The angiotensin-converting enzyme() gene harbours more genetic variation than its most famous variant — the intron 16 insertion/deletion — would suggest. The GeneOps database already profiles two ACE variants: rs4341 (the I/D tag SNP) and rs1799752 (the causal I/D structural variant). rs1800764 is a distinct third...

rs1800947 Synonymous exon 2 variant that influences baseline C-reactive protein expression and inflammatory phenotypes

Chromosome 1 Risk Allele C Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Cancer Risk, Atherosclerosis

C-reactive protein (CRP) is the body's most ancient and abundant inflammatory marker, a pentameric acute-phase protein synthesized by the liver in response to IL-6 signaling(https://pubmed.ncbi.nlm.nih.gov/). While elevated CRP unambiguously predicts cardiovascular disease, the rs1800947 polymorphism presents a...

rs185392267 Gain-of-function missense variant in PCSK9 that increases intracellular LDL receptor degradation, causing autosomal dominant familial hypercholesterolemia

Chromosome 1 Risk Allele T Category Cholesterol & Lipoproteins Tags Cholesterol, LDL Cholesterol, Cardiovascular, Heart Disease, Lipid Metabolism, Statins

The PCSK9 protein acts as a master regulator of LDL receptors(https://www.ncbi.nlm.nih.gov/gene/255738). When PCSK9 binds to an LDL receptor, it hijacks the receptor into a lysosomal degradation pathway instead of allowing it to recycle back to the cell surface. Fewer receptors means less LDL clearance, and plasma...

rs199347 Intronic GPNMB variant that acts as a brain eQTL; the A allele increases GPNMB expression in cortex and putamen, conferring genome-wide significant Parkinson's disease risk and implicating lysosomal integrity and senescent cell biology in neurological aging

Chromosome 7 Risk Allele A Category Longevity & Aging Tags Longevity, Neuroinflammation, Parkinson's, Aging, Inflammaging, Brain Health

Deep inside the cells of your brain, a protein called GPNMB (glycoprotein nonmetastatic melanoma protein B) is quietly managing one of the most critical housekeeping operations in the nervous system: keeping lysosomes functional. Lysosomes are the cellular recycling centers that break down damaged proteins, worn-out...

rs2034650 Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated with altered IVD expression, isovalerylcarnitine levels, and modest pulmonary fibrosis susceptibility

Chromosome 15 Risk Allele G Category Metabolic Enzymes & Rare Disorders Tags Energy Metabolism, Lung Health, Fibrosis, Micronutrients, Mitochondria, B Vitamins

Inside every cell's mitochondria, leucine — the most abundant branched-chain amino acid in dietary protein — is steadily broken down through a five-step enzymatic cascade. The third step belongs to isovaleryl-CoA dehydrogenase (IVD)(https://www.ncbi.nlm.nih.gov/gene/3712). When IVD works efficiently, leucine flows...

rs2118181 Intronic FBN1 variant associated with elevated thoracic aortic dissection risk through altered fibrillin-1 microfibril structure and TGF-β1 bioavailability

Chromosome 15 Risk Allele C Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Connective Tissue, Heart Disease, Extracellular Matrix, Inflammation

Fibrillin-1 is the primary structural protein of extracellular microfibrils(https://pubmed.ncbi.nlm.nih.gov/24743685/) — the elastic fibers that give the aortic wall its strength and flexibility. Mutations in FBN1 cause Marfan syndrome, but the gene also harbors common variants that, without causing Marfan syndrome,...