Research — GeneOps

rs4728142 Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromatin looping to the IRF5 alternative promoter, driving overexpression of IRF5-short transcripts and increasing risk for lupus, Sjögren's syndrome, inflammatory bowel disease, and other autoimmune conditions; the leading causal candidate for the 5' IRF5 risk signal and a tag for the CGGGG promoter insertion that creates an extra Sp1 binding site

Chromosome 7 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Interferon, Lupus, Autoimmune, Connective Tissue, Inflammation

Interferon Regulatory Factor 5 (IRF5) is the molecular ignition switch for the type I interferon response — the branch of innate immunity responsible for fighting viral infections by triggering widespread pro-inflammatory signaling. When IRF5 is overactive, the same cascade that defends against viruses begins...

rs4762 Missense variant in angiotensinogen that increases AGT protein levels and raises risk of hypertension, myocardial infarction, and stroke, with stronger effects in Asian populations

Chromosome 1 Risk Allele A Category Blood Pressure & Hypertension Tags Cardiovascular, Blood Pressure, Hypertension, Heart Disease, Preeclampsia, Women's Health

Angiotensinogen (AGT) is the essential precursor protein of the renin-angiotensin system (RAS), the body's primary long-term regulator of blood pressure and fluid balance. The kidney enzyme renin cleaves AGT to produce angiotensin I, which is then converted by ACE to angiotensin...

rs4820268 TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu) raises hepcidin and lowers iron absorption, particularly affecting iron status in menstruating women and those with marginal intake

Chromosome 22 Risk Allele A Category Iron & Mineral Transport Tags Iron, Micronutrients, Cardiovascular, Diet, Vitamins

Iron deficiency is the world's most common nutritional deficiency, yet how much iron your gut actually absorbs is controlled less by what you eat and more by a hormone called hepcidin(). The TMPRSS6 gene encodes matriptase-2(), whose job is to keep hepcidin in check by cleaving a cell-surface protein called...

rs5925 Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in concert with rs688, influencing LDL receptor levels and LDL-cholesterol concentrations

Chromosome 19 Risk Allele C Category Atherogenic Lipoproteins Tags Cardiovascular, Cholesterol, LDL Cholesterol, Statins, Pharmacogenomics

The low-density lipoprotein receptor (LDLR) pulls cholesterol-carrying LDL particles out of the bloodstream and into liver cells for clearance. Most people know that rare LDLR mutations cause familial hypercholesterolemia, a severe inherited condition of massively elevated cholesterol. But LDLR is also shaped by a...

rs6048 Common missense variant in the X-linked coagulation factor IX gene; the G allele is modestly protective against deep vein thrombosis, though its biological mechanism remains incompletely understood

Chromosome X Risk Allele A Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Thrombosis, Thrombophilia, Heart Disease

Coagulation factor IX sits at the centre of the intrinsic pathway of blood clotting. When activated by factor XIa, it forms the tenase complex with factor VIIIa, which in turn activates factor X to trigger fibrin clot formation. Severe loss-of-function mutations in F9 cause haemophilia B (Christmas disease). Factor...

rs6834314 Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 splice variant (rs72613567); the G allele tags HSD17B13 loss-of-function and is associated with reduced risk of NAFLD, NASH, cirrhosis, and lower liver enzymes — effects entirely attributable to LD rather than independent function

Chromosome 4 Risk Allele A Category Liver Fat Tags Liver Health, Fat Metabolism, Liver Disease, Inflammation, Alcohol

In 2011, a landmark genome-wide association study scanning 61,089 individuals of Caucasian and Asian Indian descent identified an intergenic variant near the HSD17B13 gene on chromosome 4 as one of the strongest signals for plasma ALT concentrations — a key marker of liver injury: Chambers JC et al. Genome-wide...

rs7944926 Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that tags lower circulating vitamin D3 synthesis capacity; a near-perfect proxy for the canonical vitamin D synthesis SNP rs12785878

Chromosome 11 Risk Allele A Category Vitamin D Metabolism Tags Vitamin D, Bone Health, Immune System, Cholesterol, Cardiovascular

Your skin makes vitamin D through a two-step process: ultraviolet B light converts 7-dehydrocholesterol (7-DHC)() in the outer skin into previtamin D3, which spontaneously rearranges into vitamin D3 (cholecalciferol). But the same 7-DHC molecule is also the substrate for DHCR7 (7-dehydrocholesterol reductase), the...

rs853854 An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) identified in the Day 2018 European GWAS meta-analysis; the T allele tags a haplotype associated with altered MAPRE1 expression, with mechanistic links to spindle instability and chromosome missegregation during oocyte meiosis

Chromosome 20 Risk Allele T Category Gamete Quality & DNA Repair Tags PCOS, Fertility, Reproductive Health, Ovarian Reserve, IVF, Women's Health

At the growing tip of every microtubule in a dividing cell sits a small protein called EB1, encoded by MAPRE1. Its job is deceptively simple: ride the plus ends of microtubules and recruit the molecular machinery that keeps the spindle — the apparatus responsible for separating chromosomes — working properly. When...

rs11683424 Intronic variant in the de novo DNA methyltransferase DNMT3A, associated with altered stress-response methylation patterns and immune cell ratios

Chromosome 2 Risk Allele T Category Methylation & Detox Tags Methylation, Methylation & Detox, Stress Response, B Vitamins, Inflammation

Every cell in your body carries the same DNA sequence, yet a liver cell and a neuron behave completely differently. That feat of biological differentiation depends on DNA methylation — the chemical tagging of cytosines | Cytosines are one of the four DNA bases; methylation adds a methyl group (–CH₃) to position 5,...

rs12255372 Second TCF7L2 diabetes variant - compounds risk with rs7903146

Chromosome 10 Risk Allele T Category Blood Sugar & Diabetes Tags Diabetes, Insulin, Fat Metabolism, Diet

This is the second most-studied variant in the TCF7L2 gene, located in intron 4 approximately 50 kb from the primary variant rs7903146. While rs7903146 is the primary diabetes risk variant, rs12255372 provides additional information about your TCF7L2 haplotype. The two variants are in moderate linkage...