Research — GeneOps

rs2120019 Intronic variant in PPCDC associated with lower circulating serum zinc levels; the C allele reduces zinc by approximately 0.3 standard deviations and has been used as a genetic instrument in Mendelian randomization studies of zinc and cardiometabolic health.

Chromosome 15 Risk Allele C Category Vitamins & Nutrient Absorption Tags Zinc, Minerals, Micronutrients, Immune Function, Vitamins

Your serum zinc level is not set only by diet. A common variant in the PPCDC gene( https://www.ncbi.nlm.nih.gov/gene/60490) influences how much zinc circulates in your blood, independently of how much you consume. Carriers of the C allele at rs2120019 tend to have lower serum zinc on average, an effect large enough...

rs2233434 Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB-epsilon protein, leading to heightened NF-κB inflammatory signaling; the G allele is associated with rheumatoid arthritis susceptibility across multiple ancestries

Chromosome 6 Risk Allele G Category TNF, NF-kB & Inflammatory Cytokines Tags Rheumatoid Arthritis, Autoimmune, Inflammation, Immune Response, Arthritis, Biologic Therapy

Rheumatoid arthritis (RA) is driven by the chronic overactivation of NF-κB(https://pubmed.ncbi.nlm.nih.gov/23028356/), the master inflammatory transcription factor. The gene NFKBIE encodes IκBε (IκB-epsilon)(https://pubmed.ncbi.nlm.nih.gov/23028356/), one of the key brake proteins that normally keeps NF-κB...

rs2268458 Intronic variant in TSHR intron 1; the C allele increases susceptibility to Graves' disease by altering thyroid-stimulating hormone receptor expression in the thymus, impairing central immune tolerance to TSHR — but notably shows no association with Graves' ophthalmopathy, suggesting variant-specific effects within this regulatory locus

Chromosome 14 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Thyroid, Hormones & Thyroid, Immune & Autoimmune, Inflammation

The thyroid-stimulating hormone receptor is the central target of Graves' disease autoimmunity. Stimulating autoantibodies (TRAbs) against TSHR permanently mimic TSH, overriding the pituitary's feedback control and driving unchecked thyroid hormone production. rs2268458 is an intronic variant in the unusually large...

rs2271194 A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a replicated PCOS susceptibility region; the A allele tags coordinated dysregulation of EGF receptor signalling, vesicular trafficking, and androgen co-repression in ovarian theca cells, increasing PCOS susceptibility with additive metabolic risk

Chromosome 12 Risk Allele A Category Fertility & Ovarian Function Tags PCOS, Fertility, Insulin Resistance, Reproductive Health, Metabolic, Hormones

One of the most intriguing PCOS susceptibility loci is not a single gene but a functional cluster on chromosome 12q13.2, where three seemingly distinct biological processes converge: EGF receptor signalling, vesicular membrane trafficking, and androgen transcriptional regulation. The rs2271194 variant is an...

rs228921 Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin and iron status via the hepcidin axis, operating in a separate haplotype block from the well-characterized Ala736Val variant

Chromosome 22 Risk Allele G Category Iron & Mineral Transport Tags Iron, Erythropoiesis, Micronutrients, Cardiovascular, Women's Health

The TMPRSS6 gene produces matriptase-2(), the enzyme that keeps hepcidin — the master iron-regulatory hormone — in check. Most genetic research on TMPRSS6 has focused on the Ala736Val variant (rs855791), which sits in the enzyme's catalytic domain. But rs228921, located roughly 2 kilobases upstream of the TMPRSS6...

rs2546890 Regulatory variant upstream of IL12B associated with increased risk of multiple sclerosis, psoriasis, and primary biliary cholangitis through altered IL-12/IL-23 cytokine expression

Chromosome 5 Risk Allele A Category Psoriasis & Spondyloarthropathy Tags Autoimmune, Multiple Sclerosis, Psoriasis, Inflammation, Immune Response, Biologic Therapy

The rs2546890 variant sits approximately 2,000 base pairs upstream of the IL12B gene(https://www.ncbi.nlm.nih.gov/gene/3593), within a non-coding RNA locus designated LOC285626. IL-12 and IL-23 are cytokines produced by dendritic cells and macrophages that act as master switches for adaptive immune responses: IL-12...

rs2569190 Promoter variant affecting CD14 expression and LPS receptor signaling — determines innate immune sensitivity to bacterial endotoxin and drives a classic gene-environment interaction with microbial exposure

Chromosome 5 Risk Allele G Category Innate Immunity & Infection Defense Tags Immune & Gut, Innate Immunity, Inflammation, Microbiome, Infectious Disease, Asthma

CD14 is the first responder to bacterial invasion. Expressed on the surface of monocytes and macrophages(https://pubmed.ncbi.nlm.nih.gov/10226067/), CD14 acts as a co-receptor that binds lipopolysaccharide (LPS) — the potent endotoxin coating the outer membrane of every gram-negative bacterium in your gut, on your...

rs258750 Intronic NR3C1 variant tagging glucocorticoid receptor gene haplotype blocks associated with cortisol sensitivity, HPA axis reactivity, and downstream effects on reproductive hormone regulation

Chromosome 5 Risk Allele G Category Reproductive Hormones Tags Fertility, Reproductive Health, Cortisol, HPA Axis, Stress Response, Hormones

The glucocorticoid receptor, encoded by NR3C1 on chromosome 5, is the molecular sensor for cortisol — the body's primary stress hormone. When cortisol rises (in response to physical or psychological stress, illness, or metabolic disruption), it enters cells and binds to the glucocorticoid receptor, triggering a...

rs267607352 Missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M von Willebrand disease) — standard VWF panels appear normal while platelet adhesion at injury sites is impaired

Chromosome 12 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Carrier Status, Genetic Counseling, Women's Health, Thrombophilia

Von Willebrand factor (VWF) is a molecular intermediary between damaged vessel walls and circulating platelets. When an endothelial surface tears, collagen fibres in the extracellular matrix are exposed. VWF must grip that collagen through its A3 domain(https://pubmed.ncbi.nlm.nih.gov/19687512/) before platelets can...

rs3024505 Downstream IL10 enhancer variant that disrupts a STAT3 binding site, reducing anti-inflammatory IL-10 production and raising susceptibility to inflammatory bowel disease, lupus, and Sjögren's syndrome

Chromosome 1 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Tags Inflammation, Immune & Autoimmune, Gut Health, Autoimmune, Immune Function

Interleukin-10 (IL-10) is the immune system's master anti-inflammatory cytokine — the molecular signal that tells an activated immune response to stand down. When IL-10 production is reduced, inflammatory reactions in the gut, joints, and other tissues run longer and harder than they should. rs3024505 sits...