Research — GeneOps

rs3738198 Intronic variant in the ZnT1 zinc efflux transporter gene; the minor C allele (plus-strand) tags a regulatory haplotype that may modestly reduce SLC30A1 expression or function, potentially lowering the efficiency of basolateral zinc export from intestinal enterocytes into the portal circulation and impairing the zinc-flux capacity of macrophages and other cells that depend on ZnT1 for intracellular zinc homeostasis

Chromosome 1 Risk Allele C Category Iron & Mineral Transport Tags Zinc, Minerals, Micronutrients, Immune Defense, Metal Metabolism, Innate Immunity

Every milligram of dietary zinc that enters systemic circulation must first cross the basolateral membrane of an intestinal enterocyte. Only one protein manages that crossing at scale: ZnT1(https://pmc.ncbi.nlm.nih.gov/articles/PMC11633486/). Without functional ZnT1, dietary zinc accumulates inside the enterocyte...

rs3748079 Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding and immune cell calcium signaling, associated with lupus, Graves' disease, and rheumatoid arthritis risk

Chromosome 6 Risk Allele C Category B-Cell Immunity & Antibody-Mediated Disease Tags Lupus, Immune & Autoimmune, Calcium, Thyroid, Rheumatoid Arthritis, Type 1 Diabetes

Calcium is the language of immune activation. When a T cell or B cell encounters its target antigen, a burst of intracellular calcium acts as the trigger for the immune response — switching on gene programs that drive proliferation, cytokine release, and antibody production. The ITPR3 gene encodes the inositol...

rs3910053 Intronic NR3C2 variant associated with salt sensitivity of blood pressure and 14-year hypertension incidence, likely modulating mineralocorticoid receptor expression in the distal nephron.

Chromosome 4 Risk Allele G Category Blood Pressure & Hypertension Tags Salt Sensitivity, Blood Pressure, Hypertension, Heart Disease, Kidney Function, Cardiovascular

The mineralocorticoid receptor(https://www.ncbi.nlm.nih.gov/gene/4306) sits at the heart of blood pressure regulation. When aldosterone binds MR in the distal nephron and collecting duct, the receptor translocates to the nucleus and upregulates the epithelial sodium channel (ENaC), driving sodium and water...

rs4253238 Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic activity and associates with higher circulating endothelin and adrenomedullin surrogate markers — vasoactive peptides predictive of cardiac stress and heart failure

Chromosome 4 Risk Allele T Category Coagulation & Clotting Factors Tags Cardiovascular, Blood Pressure, Inflammation, Blood Clotting, Heart Disease, Thrombosis, Thrombophilia

KLKB1(https://pubmed.ncbi.nlm.nih.gov/23676986/) is the central enzyme of the plasma contact activation pathway. When factor XII (Hageman factor)(https://pubmed.ncbi.nlm.nih.gov/25339356/) is activated, it converts plasma prekallikrein into plasma kallikrein — an active protease with far-reaching effects on...

rs4293393 UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-sensitive hypertension, and gout risk with paradoxical kidney stone protection

Chromosome 16 Risk Allele A Category Uric Acid & Kidney Function Tags Kidney Disease, Hypertension, Gout, Uric Acid, Cardiovascular

The UMOD gene encodes uromodulin(https://pubmed.ncbi.nlm.nih.gov/24185693/), a protein with a paradoxical dual role in kidney health. Uromodulin forms protective filaments in urine that trap bacteria and prevent urinary tract infections(https://pubmed.ncbi.nlm.nih.gov/26966016/), but it also activates sodium...

rs4987188 Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that substitutes glycine for aspartate at a conserved structural position; classified benign for Lynch syndrome, but carriers transmit significantly more germline microsatellite de novo mutations to offspring, reflecting subtly reduced mismatch repair fidelity in germ cells

Chromosome 2 Risk Allele A Category Gamete Quality & DNA Repair Tags Mismatch Repair, DNA Repair, Genomic Stability, Cancer Risk, Male Fertility, Colorectal Cancer

Your genome is copied and transmitted to the next generation in sperm and eggs. Every round of cell division during gametogenesis introduces errors — and the mismatch repair (MMR) system(https://pubmed.ncbi.nlm.nih.gov/36434153/) catches most of them before they become permanent. MSH2 is the central scaffold of this...

rs5177 3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of the TACGC cardiovascular risk haplotype associated with premature myocardial infarction and coronary artery disease

Chromosome 1 Risk Allele C Category Atherogenic Lipoproteins Tags Cardiovascular, Heart Disease, Atherosclerosis, Lipid Metabolism, Inflammation

LRP8, also known as ApoER2 (apolipoprotein E receptor 2), is the only member of the low-density lipoprotein receptor family expressed in platelets. It plays a central role in platelet activation, lipoprotein metabolism(https://pubmed.ncbi.nlm.nih.gov/32664652/), and inflammatory signaling in macrophages and...

rs641738 Regulatory variant that reduces MBOAT7 expression in the liver, impairing phosphatidylinositol remodeling and increasing risk of NAFLD, liver fibrosis, and hepatocellular carcinoma

Chromosome 19 Risk Allele T Category Liver Fat Tags Liver Health, Fat Metabolism, Triglycerides, Inflammation, Diet

Your liver cells constantly remodel the fatty acid tails of membrane phospholipids, swapping in and out different acyl chains to maintain proper membrane composition and signaling. The MBOAT7 gene(https://www.ncbi.nlm.nih.gov/gene/79143) encodes the enzyme responsible for one specific and critical step in this...

rs6983267 Intergenic enhancer variant near MYC oncogene — modestly increases colorectal and prostate cancer susceptibility via Wnt signaling

Chromosome 8 Risk Allele G Category Cancer Risk Tags Cancer Risk, Cancer Screening, Prostate, Colorectal Cancer

Chromosome 8q24 is the most frequently implicated region in cancer genome-wide association studies, yet it contains no protein-coding genes for hundreds of kilobases. The variant rs6983267 sits in an intergenic desert roughly 335 kilobases upstream of MYC(), one of the most important oncogenes in human biology....

rs6997709 Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated with elevated systolic blood pressure; the T allele was identified as a suggestive hypertension signal in the Wellcome Trust GWAS and replicated in Korean and European cohorts. KCNK9 encodes a background K⁺ channel in adrenal zona glomerulosa cells that regulates aldosterone secretion.

Chromosome 8 Risk Allele T Category Arrhythmia & Heart Rhythm Tags Hypertension, Blood Pressure, Cardiovascular, Salt Sensitivity, Heart Disease, Kidney Function

The KCNK9 gene encodes TASK3, a two-pore domain background potassium channel(https://pubmed.ncbi.nlm.nih.gov/20049674/) that is highly expressed in the adrenal zona glomerulosa — the thin outer layer of the adrenal cortex responsible for producing aldosterone. Aldosterone is the steroid hormone that tells the...