Research — GeneOps

rs10882398 Intronic PLCE1 variant where the A allele raises systolic blood pressure and confers genome-wide significant risk for preeclampsia and pregnancy-induced hypertension through impaired podocyte calcium signaling and vascular pressure regulation

Chromosome 10 Risk Allele A Category Blood Pressure & Hypertension Tags Blood Pressure, Cardiovascular, Preeclampsia, Hypertension, Kidney Function, Inflammation

Tucked within the introns of PLCE1 on chromosome 10, rs10882398 marks a variant that influences blood pressure across the lifespan and reaches its most dramatic clinical expression during pregnancy. PLCE1 (phospholipase C epsilon 1) encodes an enzyme that hydrolyzes membrane phospholipids to generate second...

rs10936599 Near-TERC regulatory variant where the minor T allele associates with shorter telomeres and accelerated cellular aging, while the major C allele produces longer telomeres but paradoxically increases risk for certain cancers

Chromosome 3 Risk Allele T Category Longevity & Aging Tags Telomere Biology, Aging, Longevity, Cardiovascular, Cancer Risk

Telomeres — the repetitive DNA caps that protect chromosome ends — shorten with every cell division, acting as a biological clock that marks cellular age. The gene TERC encodes the RNA template that the telomerase enzyme uses to rebuild these caps, and the chromosomal region 3q26.2 harboring TERC contains some of...

rs1125226 Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile acid synthesis rate and LDL cholesterol clearance

Chromosome 8 Risk Allele A Category Cholesterol & Lipoproteins Tags Cholesterol, LDL Cholesterol, Fat Metabolism, Cardiovascular, Statins, Liver

Your liver is constantly converting cholesterol into bile acids — the detergent-like molecules that emulsify dietary fat and exit the body via the gut. The enzyme that sets the pace for this entire process is cholesterol 7α-hydroxylase(https://www.ncbi.nlm.nih.gov/gene/1581), encoded by the CYP7A1 gene. The faster...

rs11264799 Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expression in B cells, contributing to susceptibility to IgA nephropathy and potentially other autoimmune conditions through altered B cell receptor signalling thresholds

Chromosome 1 Risk Allele T Category B-Cell Immunity & Antibody-Mediated Disease Tags Autoimmune, B-Cell Signaling, Inflammation, Kidney Disease, Immune Response, Rheumatoid Arthritis

The FCRL3(https://www.ncbi.nlm.nih.gov/gene/115353) gene sits on chromosome 1q23, a region densely populated with immune receptor genes. rs11264799 lies approximately 59 bp from the well-studied rs7528684 promoter variant, placing it squarely in the upstream regulatory landscape of FCRL3. The variant itself does not...

rs11269962 A 14-bp indel 2.2 kb upstream of IRF5 that is the most strongly associated cis-regulatory variant for IRF5 expression; the deletion allele tags protective haplotypes with lower SLE susceptibility, representing the third independent cis-regulatory signal in the IRF5 5' haplotype block alongside rs13245639 and rs729302

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

Interferon Regulatory Factor 5 (IRF5) is the molecular conductor of the type I interferon symphony — a transcription factor that, when overactive, drives the chronic immune hyperactivation underlying systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), systemic sclerosis, and Sjögren syndrome. Among the...

rs1143634 Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion despite no amino acid change, elevating chronic periodontitis risk and modulating inflammatory disease susceptibility

Chromosome 2 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Tags Inflammation, Autoimmune, Periodontal Disease, Cancer Risk, Immune Response

Interleukin-1 beta (IL-1β) is one of the most potent pro-inflammatory cytokines in the human immune system(https://pubmed.ncbi.nlm.nih.gov/29073957/). The IL1B gene encodes this cytokine on chromosome 2, and the rs1143634 variant at exon 5 position +3954 presents an unusual biological puzzle: a synonymous mutation —...

rs11674184 Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is associated with increased endometriosis risk; the G allele confers protection. Identified independently of the nearby rs13394619 GREB1 variant (r²=0.65 in Europeans — moderate LD, not redundant), with OR=1.13 and P=3×10⁻¹⁷ for all endometriosis and OR=1.16 (P=6×10⁻⁹) for stage 3/4 disease in the 2023 Rahmioglu Nature Genetics GWAS.

Chromosome 2 Risk Allele T Category Endometriosis & Uterine Health Tags Endometriosis, Estrogen, Fertility, Reproductive Health, Hormones, Women's Health

Endometriosis affects an estimated 10% of reproductive-age women and remains one of the most under-diagnosed causes of chronic pelvic pain and infertility. The condition is estrogen-dependent: ectopic lesions generate their own local estrogen supply through elevated aromatase activity, and this autocrine estrogen...

rs118204437 Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carriers develop Mucopolysaccharidosis IVA (Morquio syndrome A), a severe skeletal lysosomal storage disorder; heterozygous carriers are clinically unaffected

Chromosome 16 Risk Allele A Category Metabolic Enzymes & Rare Disorders Tags Carrier Status, Bone & Joint, Connective Tissue, Metabolic, Genetic Counseling

Every cell in your body continuously breaks down and recycles old molecular scaffolding — including glycosaminoglycans(https://pubmed.ncbi.nlm.nih.gov/25137622/), such as keratan sulfate and chondroitin-6-sulfate. This recycling happens inside lysosomes, tiny cellular recycling compartments, and requires a precise...

rs1183201 Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter; the T allele impairs renal urate secretion, raising serum uric acid and increasing gout risk, with protective A allele frequency ~46% in Europeans

Chromosome 6 Risk Allele T Category Uric Acid & Kidney Function Tags Gout, Uric Acid, Kidney Function, Renal Function, Micronutrients, Diet

The kidneys manage roughly two-thirds of daily uric acid excretion, and they accomplish this through a precise interplay of transporters on the proximal tubule epithelium. On the apical (urine-facing) membrane, proteins export uric acid from tubular cells into the tubular lumen for elimination; on the basolateral...

rs11881940 Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macrophages and immune cells, associated with elevated early-onset coronary heart disease risk; the common A allele is the risk allele

Chromosome 19 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Heart Disease, Atherosclerosis, Inflammation, RNA Splicing, Macrophage

Deep inside chromosome 19 lies a variant that, for most of human history, has gone entirely unnoticed — yet it sits in a gene that orchestrates how immune cells process and deploy genetic information during inflammation. HNRNPUL1 (heterogeneous nuclear ribonucleoprotein U-like 1) is an RNA-binding protein expressed...