Research — GeneOps

rs492594 Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting glucose setpoint by altering G6PC2 protein abundance in pancreatic beta cells

Chromosome 2 Risk Allele G Category Blood Sugar & Diabetes Tags Diabetes, Metabolic, Insulin, Fasting Glucose, Pancreatic Beta Cell, Metabolic Health

Every morning, before you eat, your pancreatic beta cells are running a delicate balancing act. Glucokinase phosphorylates incoming glucose to glucose-6-phosphate, signaling the cell to release insulin. G6PC2 — expressed exclusively in beta cells — hydrolyzes that signal molecule back to...

rs516134 Regulatory variant ~20 kb downstream of RGS16 that influences circadian chronotype via cAMP signaling in the suprachiasmatic nucleus; the C allele is associated with morningness preference (OR 1.21) in the largest replicated chronotype GWAS

Chromosome 1 Risk Allele C Category Hormones & Sleep Tags Chronotype, Circadian, Sleep, Hormones, Brain Health

Deep inside the hypothalamus, a cluster of roughly 20,000 neurons called the suprachiasmatic nucleus (SCN)() fires in near-perfect 24-hour cycles, orchestrating sleep, hormone release, and metabolism across every cell in the body. Keeping those neurons synchronized with each other — not just cycling individually —...

rs6507931 Intronic LIPG variant that modulates HDL cholesterol levels, with strongest effects on HDL particle size and concentration in physically inactive individuals

Chromosome 18 Risk Allele T Category Triglycerides & Fatty Acids Tags Cholesterol, Cardiovascular, Fat Metabolism, Diet, Omega-3

Endothelial lipase (EL) is an enzyme secreted by vascular endothelial cells that hydrolyzes the phospholipid coat of HDL particles(). Higher endothelial lipase activity degrades HDL faster, lowering both HDL particle count and size. The LIPG gene encodes this enzyme, and rs6507931 is an intronic variant that...

rs7649970 PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevating LDL-cholesterol and increasing coronary artery disease risk independently of traditional cardiovascular risk factors

Chromosome 3 Risk Allele T Category Fat Storage & Energy Tags Fat Metabolism, Cardiovascular, Metabolic, Insulin, LDL Cholesterol, Adipogenesis

The PPARG gene encodes PPARγ(), the master regulator of fat-cell biology. The gene has multiple isoforms generated from distinct promoters. The C-689T variant (rs7649970) sits in the P2 promoter — the one that exclusively drives expression of the PPARγ2 isoform(), which is predominant in adipose tissue and is the...

rs2297839 Intronic variant in CHI3L1 associated with circulating YKL-40 levels and modulation of hypertension risk; the T allele is linked to lower YKL-40 output and a reduced risk of hypertension, extending the known allergy-relevant inflammatory axis of the CHI3L1 locus into cardiovascular biology

Chromosome 1 Risk Allele C Category Allergy & Atopic Disease Tags Asthma, Inflammation, Biomarkers, Lung Health, Hypertension, Immune Response

The CHI3L1 gene encodes YKL-40, a chitinase-like glycoprotein that functions as a biomarker and mediator of tissue inflammation. Elevated YKL-40 is a consistent feature of active asthma, allergic airway disease, and cardiovascular inflammation; levels track with disease severity across all three domains. The CHI3L1...

rs356182 Parkinson's disease GWAS risk variant affecting alpha-synuclein expression and neuronal differentiation

Chromosome 4 Risk Allele G Category Neurology & Cognition Tags Neurological Risk, Parkinson's, Neuroprotection, Brain Health, Oxidative Stress, Exercise

The rs356182 variant sits approximately 19 kilobases downstream of the SNCA gene(https://omim.org/entry/163890), in a brain-specific regulatory region marked by H3K27Ac histone modifications. This variant is one of the most statistically significant genetic associations with Parkinson's...

rs3788189 Intronic variant in the folate transporter gene associated with pemetrexed treatment outcomes and folate pathway efficiency in antifolate chemotherapy

Chromosome 21 Risk Allele G Category Methylation & Detox Tags Methylation & Detox, Folate, Pharmacogenomics, Cancer Treatment, Drug Metabolism

SLC19A1, known as the reduced folate carrier (RFC1), is the principal gateway through which folate vitamins and antifolate drugs enter cells. Every cell in your body depends on RFC1 to import the folate it needs for DNA synthesis and methylation. The same transporter is exploited by two major drug classes —...

rs3791033 Intronic variant in KDM4A histone demethylase associated with problematic opioid prescription use in a 132,113-participant GWAS

Chromosome 1 Risk Allele C Category Pharmacogenomics Tags Pharmacogenomics, Drug Metabolism, Pain Sensitivity, Chronic Pain, Addiction, Epigenetics

Pain and the medications used to treat it are profoundly personal. The same opioid dose that barely touches one person's pain may overwhelm another's reward circuits. Part of that individual variation is genetic — and some of it traces back to the chromatin architecture of pain-relevant genes themselves. rs3791033...

rs5015480 Regulatory variant near HHEX and IDE linked to impaired beta-cell development and insulin secretion, one of the earliest and most-replicated T2D GWAS loci

Chromosome 10 Risk Allele C Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Pancreatic Beta Cell, Fasting Glucose, Metabolic

When scientists began systematically scanning the human genome for type 2 diabetes risk, one of the first and most consistently replicated signals landed on chromosome 10q23 — near two genes with seemingly different jobs: HHEX(https://pubmed.ncbi.nlm.nih.gov/17463248/) and...

rs523349 Missense variant reducing 5-alpha-reductase type 2 enzyme activity, affecting DHT production and response to finasteride

Chromosome 2 Risk Allele C Category Hormones & Sleep Tags Hormones & Thyroid, Testosterone, Prostate, Hair Loss, Drug Metabolism

The SRD5A2 gene encodes steroid 5-alpha-reductase type 2, the enzyme that converts testosterone to 5-alpha dihydrotestosterone (DHT) — the most potent androgen in the body. This conversion is critical in the prostate, hair follicles, and skin. The V89L variant (rs523349) is a missense single nucleotide polymorphism...