Research — GeneOps

rs167769 Intronic variant in STAT6 (intron 2) that forms a functional haplotype with rs324011; the T allele increases STAT6 promoter activity and is associated with elevated serum IgE, atopic dermatitis, eczema herpeticum susceptibility, and eosinophilic esophagitis relapse through enhanced Th2 signaling

Chromosome 12 Risk Allele T Category Allergy & Atopic Disease Tags JAK-STAT Signaling, Inflammation, Autoimmune, Asthma, Skin Health, T-Cell Regulation

STAT6 (Signal Transducer and Activator of Transcription 6)(https://pubmed.ncbi.nlm.nih.gov/19665768/) sits at the center of the Th2 immune axis. The rs167769 variant is located in intron 2 of the STAT6 gene on chromosome 12q13, approximately 1,600 base pairs downstream of its haplotype partner rs324011. Together,...

rs17649553 Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting risk for Parkinson disease, progressive supranuclear palsy, and other tauopathies

Chromosome 17 Risk Allele T Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Dementia, Alzheimer's, Brain Health, Aging

About 3 million years ago, a 900-kilobase inversion occurred on chromosome 17q21(https://pubmed.ncbi.nlm.nih.gov/15654335/), creating two distinct evolutionary lineages of the microtubule-associated protein tau (MAPT) gene: H1 and H2. This SNP, rs17649553, is one of several markers that can distinguish between these...

rs1799817 Synonymous variant in the tyrosine kinase domain of the insulin receptor; the A risk allele (plus-strand) is associated with PCOS susceptibility and insulin resistance in lean women, possibly through altered mRNA processing near the ATP-binding site of the receptor kinase domain

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Tags PCOS, Insulin Resistance, Insulin, Hormones, Diabetes, Reproductive Health

The insulin receptor is the master switch for glucose metabolism. When insulin binds to its extracellular alpha subunit, it triggers a conformational change that activates the intracellular beta subunit's tyrosine kinase domain — initiating a cascade that opens glucose transporters, suppresses glucose production,...

rs1799983 Nitric oxide production - reduced activity increases cardiovascular risk and oxidative stress

Chromosome 7 Risk Allele T Category Methylation & Detox Tags Cardiovascular, Nitric Oxide, Detoxification, Histamine

Endothelial nitric oxide synthase (eNOS), encoded by the NOS3 gene, produces nitric oxide (NO) in the lining of blood vessels. Nitric oxide is one of the most important molecules in cardiovascular biology - it relaxes blood vessel walls, prevents blood clots from forming, and reduces inflammation in the arterial...

rs2031920 Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress from ethanol and procarcinogen metabolism

Chromosome 10 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Carcinogen Metabolism, Liver Disease, Oxidative Stress, Alcohol, Cancer Risk

CYP2E1 is the enzyme your liver uses to metabolize ethanol, acetaminophen, industrial solvents, and dozens of environmental procarcinogens. It is also one of the most prolific generators of reactive oxygen species in the body — every time CYP2E1 processes a substrate, it produces free radicals as a byproduct. The 5B...

rs2144908 Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impaired glucose-stimulated insulin secretion and elevated type 2 diabetes susceptibility

Chromosome 20 Risk Allele A Category Hormones & Sleep Tags Diabetes, Insulin, Metabolic Health, Liver Health, Hormones, Pancreatic Beta Cell

HNF4A(https://www.ncbi.nlm.nih.gov/gene/3172) is one of the most important metabolic transcription factors in the body. Unlike many diabetes genes that act through a single pathway, HNF4A controls the expression of dozens of downstream targets including GLUT2 (glucose transporter), glucokinase, mitochondrial...

rs2241767 Intronic variant in the adiponectin gene associated with lower circulating adiponectin levels, increased type 2 diabetes susceptibility in overweight individuals, and elevated subclinical cardiovascular risk; the G allele confers reduced adiponectin secretion and higher metabolic syndrome risk

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

Adiponectin is one of the most important hormones your body makes — and unlike most hormones, it is produced exclusively by fat cells. This may seem counterintuitive: how can fat tissue secrete a hormone that protects against the very diseases associated with excess fat? The answer lies in adiponectin's remarkable...

rs2278236 Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is associated with higher HDL cholesterol and lower cardiovascular event risk

Chromosome 19 Risk Allele A Category Triglycerides & Fatty Acids Tags Fat Metabolism, Triglycerides, HDL Cholesterol, Cardiovascular, Cholesterol

Your body has a master switch that controls how much fat gets pulled out of your bloodstream after a meal. That switch is ANGPTL4(https://pubmed.ncbi.nlm.nih.gov/31235370/), and this variant in its gene is linked to how effectively it operates. People with the A allele at rs2278236 tend to carry higher HDL...

rs243865 Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enzyme production, affecting extracellular matrix remodeling in connective tissue and adipose tissue

Chromosome 16 Risk Allele C Category Fitness & Body Tags Connective Tissue, Extracellular Matrix, Inflammation, Fat Metabolism, Cardiovascular

Matrix metalloproteinase-2 (MMP-2), also called gelatinase A, is the body's primary enzyme for dissolving type IV collagen — the scaffolding that forms basement membranes throughout virtually every tissue. When fat cells expand, when capillaries branch, when wounds heal, MMP-2 is the molecular digger clearing the...

rs2736100 Common intron 2 variant in the telomerase gene that influences telomere length, with the C allele associated with longer telomeres and increased cancer risk, while the A allele links to shorter telomeres and higher risk of degenerative diseases

Chromosome 5 Risk Allele C Category Longevity & Aging Tags Mental Health, Telomere Biology, Aging, Cancer Risk, Longevity, Cardiovascular

TERT (telomerase reverse transcriptase) is the catalytic subunit of telomerase, the enzyme that maintains telomere length by adding DNA repeats to chromosome ends. Telomeres shorten with each cell division(https://pubmed.ncbi.nlm.nih.gov/23647631/), and when they reach a critical length, cells enter senescence or...