Research — GeneOps

rs2229431 Synonymous exon 13 variant in the insulin receptor gene; the A allele has been associated with schizoaffective disorder and modestly with body height in psychiatric cohort studies

Chromosome 19 Risk Allele A Category Blood Sugar & Diabetes Tags Insulin, Insulin Resistance, Diabetes, Mental Health, Brain Health, Metabolic Health

The insulin receptor (INSR) does far more than regulate blood sugar. Expressed in neurons throughout the brain — particularly in the hippocampus, hypothalamus, and prefrontal cortex — the insulin receptor plays a role in synaptic plasticity(https://pubmed.ncbi.nlm.nih.gov/30664342/), dopamine signaling, and neuronal...

rs2280275 Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) production, lowering the vasodilatory and cardioprotective signaling molecules derived from arachidonic acid

Chromosome 1 Risk Allele C Category Pharmacogenomics Tags Pharmacogenomics, Cardiovascular, Blood Pressure, Omega-3, Heart Disease, Ancestry-Specific, Endothelial Health

Your heart produces its own protective signaling molecules. CYP2J2 is a cytochrome P450 enzyme expressed primarily in cardiac myocytes and vascular endothelial cells, where it converts arachidonic acid into epoxyeicosatrienoic acids (EETs)(https://pubmed.ncbi.nlm.nih.gov/15466638/). These EETs — particularly...

rs2325751 Regulatory variant 2 kb upstream of PNPO that may alter expression of the vitamin B6-activating enzyme; the G allele shows the strongest single-SNP association with schizophrenia among PNPO variants in a Japanese population study, implicating impaired PLP production in psychiatric risk

Chromosome 17 Risk Allele G Category Hormones & Sleep Tags Sleep, Neurotransmitters, B Vitamins, Homocysteine, Neurological Risk, Serotonin

Pyridoxal 5'-phosphate (PLP) — the metabolically active form of vitamin B6 — is an essential cofactor for over 140 enzymes, including every enzyme involved in synthesizing the neurotransmitters that govern mood, cognition, and sleep: serotonin, dopamine, GABA, and melatonin. Before any of this biochemistry can...

rs2920502 Intronic PPARG variant associated with body fat percentage, impaired glucose tolerance, and metabolic syndrome risk

Chromosome 3 Risk Allele C Category Fat Storage & Energy Tags Adipogenesis, Diabetes, Insulin Resistance, Metabolic, Fat Distribution, Obesity

PPARG (Peroxisome Proliferator-Activated Receptor Gamma) is a nuclear transcription factor that sits at the heart of adipocyte biology. It controls how preadipocytes differentiate into fat cells, regulates fatty acid storage and oxidation, and determines how well tissues respond to insulin. PPARG is also the...

rs2954021 Near-gene variant influencing hepatic lipid metabolism; G allele raises triglycerides and LDL while A allele increases liver enzyme levels and fatty liver risk

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

The TRIB1 gene(https://www.ncbi.nlm.nih.gov/gene/10221) sits at one of the most replicated triglyceride loci in the human genome. Despite encoding a pseudokinase — a protein that resembles a kinase but lacks catalytic activity — TRIB1 has a powerful indirect effect on blood fat levels through its role in controlling...

rs350845 Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression across 18 tissue types and is enriched in Ashkenazi Jewish centenarians, linking higher SIRT6 activity to improved genomic stability and longevity

Chromosome 19 Risk Allele G Category Longevity & Aging Tags Longevity, Aging, Telomere Biology, DNA Repair, Inflammation

Your cells wage a continuous war against entropy. Every day, ultraviolet radiation, reactive oxygen species, replication errors, and jumping genetic elements called retrotransposons threaten the integrity of your DNA. SIRT6 — a NAD+-dependent enzyme — sits at the center of this defense, coordinating DNA...

rs41309766 Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers face substantially elevated risk of bicuspid aortic valve, progressive aortic valve calcification and stenosis, and thoracic aortic aneurysm through loss of Notch-mediated suppression of osteoblastic calcification

Chromosome 9 Risk Allele D Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Heart Disease, Congenital, Genetic Counseling, Angiogenesis, Calcium

The aortic valve is one of the most mechanically demanding structures in the human body, opening and closing roughly 100,000 times per day across a lifetime. Its precise architecture — three thin, pliable leaflets that coapt perfectly with each cycle — is exquisitely dependent on developmental signaling....

rs4253778 Regulates fatty acid oxidation and muscle fiber composition, influencing endurance capacity and cardiac adaptation to exercise

Chromosome 22 Risk Allele C Category Fitness & Body Tags Endurance, Exercise, Fat Metabolism, Cardiovascular, Muscle

PPARA (Peroxisome Proliferator-Activated Receptor Alpha) is a nuclear receptor that acts as a master regulator of fatty acid oxidation, ketogenesis, and energy homeostasis. It controls how efficiently your muscles burn fat for fuel during prolonged exercise. The intron 7 G/C variant (rs4253778) alters PPARA...

rs5743836 TLR9 promoter variant that creates an IL-6-responsive element and estrogen-sensitive transcription site, amplifying innate immune signaling and increasing lymphoma susceptibility while modulating malaria, HCV, and thrombosis outcomes

Chromosome 3 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Autoimmune, Immune System

Toll-like receptor 9 (TLR9)(https://www.ncbi.nlm.nih.gov/gene/54106) is one of the body's most fundamental alarm systems for microbial invasion. The rs5743836 variant — the third member of the classical TLR9 promoter haplotype trio alongside rs187084 (-1486T/C) and rs352140 (exon 2 synonymous) — is positioned 1,237...

rs60910145 Second component of the APOL1 G1 kidney disease risk haplotype — a missense variant that, together with rs73885319 (S342G), confers 7- to 29-fold increased risk for non-diabetic CKD under a recessive inheritance model in African-ancestry populations

Chromosome 22 Risk Allele G Category Cholesterol & Lipoproteins Tags Kidney Disease, Cardiovascular, Inflammation, Infectious Disease, Ancestry

Apolipoprotein L1 (APOL1) is a secreted protein that circulates on HDL particles(https://pubmed.ncbi.nlm.nih.gov/20647424/) and serves as the innate immune system's weapon against Trypanosoma brucei, the parasite causing African sleeping sickness. The G1 risk haplotype consists of two missense variants in...