Research — GeneOps

rs2297508 SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk for type 2 diabetes through reduced adiponectin secretion and impaired insulin-mediated lipogenic signalling

Chromosome 17 Risk Allele G Category Fat Storage & Energy Tags Diabetes, Insulin Resistance, Lipid Metabolism, Metabolic, Cardiovascular, Fat Metabolism

SREBP-1c| Full name: Sterol Regulatory Element-Binding Protein 1c — a membrane-bound transcription factor that is cleaved and activated by insulin to drive expression of fatty acid synthesis and glycolytic genes in liver and adipose tissue is the master switch for insulin-stimulated lipogenesis. Its gene, SREBF1,...

rs264 Intronic LPL variant associated with altered triglyceride clearance and HDL levels; the minor A allele is linked to lower HDL cholesterol and elevated coronary artery disease risk

Chromosome 8 Risk Allele A Category Triglycerides & Fatty Acids Tags Triglycerides, Cholesterol, Cardiovascular, Fat Metabolism, Diet

Lipoprotein lipase (LPL) is the central enzyme that clears triglyceride-rich particles() from circulation. LPL activity sets the pace for how quickly you clear fat from your blood after eating. The rs264 variant, located in intron 6 of the LPL gene (NM000237.3:c.776-172GA), is an intronic polymorphism with...

rs2779249 Functional promoter variant that increases iNOS transcriptional activity up to 5-fold, raising nitric oxide output and nitrosative stress; forms a risk haplotype with the gain-of-function coding variant rs2297518

Chromosome 17 Risk Allele A Category Longevity & Aging Tags Longevity, Inflammaging, Nitric Oxide, Cardiovascular, Oxidative Stress, Inflammation

Every cell in your immune system carries a genetic volume knob for inducible nitric oxide synthase (iNOS), the enzyme that produces high-output bursts of nitric oxide during inflammatory responses. The rs2779249 variant sits in the NOS2 promoter region at position −1026 relative to the transcription start site — a...

rs2908004 Missense variant in WNT16 that substitutes glycine for arginine at position 82, reducing cortical bone mineral density and increasing fracture risk

Chromosome 7 Risk Allele G Category Fitness & Body Tags Bone & Joint, Bone Health, Fracture Risk, Calcium, Vitamin D

Your bones are constantly being broken down and rebuilt. At the heart of that process in cortical bone(https://pubmed.ncbi.nlm.nih.gov/25306233/) sits the WNT16 protein — a signaling molecule secreted by bone-forming cells that keeps bone-resorbing cells in check. The rs2908004 variant introduces a single amino acid...

rs397516919 Nonsense variant in desmoplakin that truncates the protein at codon 550, causing severe haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic cardiomyopathy with predominantly left ventricular fibrosis and high arrhythmic risk

Chromosome 6 Risk Allele A Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Arrhythmia, Fibrosis, Genetic Counseling, Carrier Status

The heart beats more than 2.5 billion times over a lifetime. Sustaining that rhythm requires adhesion structures strong enough to withstand constant mechanical stress — and the primary load-bearing junction between adjacent cardiac muscle cells is the desmosome(https://pubmed.ncbi.nlm.nih.gov/32372669/). Desmoplakin...

rs4073 Promoter variant affecting interleukin-8 transcription and inflammatory burden

Chromosome 4 Risk Allele T Category Vascular Inflammation & Remodeling Tags Inflammation, Cardiovascular, Heart Disease, Atherosclerosis, Immune Response, Biomarkers

Interleukin-8 (IL-8), also called CXCL8, is one of the body's most powerful chemokines — chemical signals that recruit neutrophils and other immune cells to sites of inflammation. This variant sits in the promoter region(https://www.ncbi.nlm.nih.gov/snp/rs4073) of the IL8 gene at position -251, where it directly...

rs429358 Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high saturated fat

Chromosome 19 Risk Allele C Category Cholesterol & Lipoproteins Tags Cholesterol, Cardiovascular, Alzheimer's, Fat Metabolism, Diet

APOE| Apolipoprotein E is a protein that helps transport cholesterol and other fats through the bloodstream is one of the most important genes in human genetics. It affects cholesterol transport, brain health, and longevity. Your APOE genotype is determined by two variants: rs429358 (this one, the E4 determinant)...

rs4654748 Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common genetic determinant of circulating vitamin B6 (PLP) levels, acting through alkaline phosphatase-mediated catabolism

Chromosome 1 Risk Allele C Category Vitamins & Nutrient Absorption Tags B Vitamins, Homocysteine, Neurotransmitters, Cardiovascular, Methylation, Diet

Vitamin B6 is not a single molecule but a family of related compounds — pyridoxine, pyridoxal, pyridoxamine, and their phosphorylated forms — that your body continuously interconverts. The active coenzyme form is pyridoxal 5'-phosphate (PLP)(https://pubmed.ncbi.nlm.nih.gov/19303062/), which participates in over 100...

rs4833095 Missense variant replacing asparagine with serine at TLR1 position 248 in the extracellular leucine-rich repeat domain — impairing TLR1/TLR2 heterodimer signaling to bacterial triacylated lipopeptides and increasing susceptibility to gram-positive bacterial infections and leprosy

Chromosome 4 Risk Allele C Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Immune System

Your immune system detects bacterial invaders through a set of sentinel proteins called Toll-like receptors. TLR1 acts as a co-detector for triacylated lipopeptides — the fatty-acid decorated proteins that coat many gram-positive bacteria, mycobacteria, and fungi. It does this not alone, but as an obligate...

rs505922 Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clotting proteins), C allele marks non-O types (A, B, AB) with elevated VTE and cardiovascular risk

Chromosome 9 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Thrombosis, Blood Thinners, Inflammation, Cancer Risk, Thrombophilia

The ABO gene on chromosome 9 encodes glycosyltransferase enzymes that attach A or B sugar antigens to the surface of red blood cells and to plasma proteins including von Willebrand factor (VWF)(https://pubmed.ncbi.nlm.nih.gov/17002642/). rs505922 is a well-validated tag SNP sitting in the first intron of ABO; its T...