Research — GeneOps

rs2234663 Intron 2 VNTR polymorphism in IL1RN that alters IL-1Ra isoform balance and is associated with increased susceptibility to gastric cancer after H. pylori infection, severe chronic periodontitis, SLE, COPD, and post-traumatic osteomyelitis through dysregulated IL-1/IL-1Ra signaling

Chromosome 2 Risk Allele D Category TNF, NF-kB & Inflammatory Cytokines Tags Inflammation, Autoimmune, Immune Function, Gastric Health, Periodontal Disease, Rheumatoid Arthritis

The immune system's inflammatory response is governed not just by the molecules that ignite inflammation, but equally by those that extinguish it. Interleukin-1 receptor antagonist (IL-1Ra)(https://pubmed.ncbi.nlm.nih.gov/10746728/) is one of the most important of these brakes. Encoded by the IL1RN gene on...

rs2235321 Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron status; the G allele tags a haplotype with modestly elevated hepcidin and reduced iron absorption efficiency

Chromosome 22 Risk Allele G Category Vitamins & Nutrient Absorption Tags Iron, Micronutrients, Vitamins, Erythropoiesis, Minerals

TMPRSS6() is the body's primary brake on the iron-regulatory hormone hepcidin(). Common TMPRSS6 variants consistently rank among the strongest genetic determinants of serum iron, transferrin saturation, and hemoglobin in genome-wide association studies across diverse populations. rs2235321 sits in exon 15 of TMPRSS6...

rs2293275 Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ovarian response to LH stimulation, PCOS risk, ovarian aging, and IVF outcomes

Chromosome 2 Risk Allele T Category Fertility & Ovarian Function Tags Reproductive Health, Hormones, Fertility, PCOS, Pharmacogenomics

The luteinizing hormone/choriogonadotropin receptor (LHCGR) sits on the surface of ovarian theca cells, testicular Leydig cells, and luteinized granulosa cells, where it receives LH and hCG signals that drive ovulation, progesterone production, and testosterone synthesis. The N312S variant — a single amino acid...

rs2304256 A common missense and splicing variant in TYK2 that promotes exon 8 inclusion and mildly enhances TYK2 expression, conferring protection against multiple autoimmune diseases including SLE, rheumatoid arthritis, type 1 diabetes, and psoriasis

Chromosome 19 Risk Allele C Category Autoimmune Tolerance & T-Cell Regulation Tags Autoimmune, Interferon, Inflammation, Type 1 Diabetes, Rheumatoid Arthritis, JAK-STAT Signaling, Lupus

Most people have never heard of TYK2, yet this kinase sits at the crossroads of three of the most clinically important cytokine pathways in autoimmune disease. TYK2(https://pubmed.ncbi.nlm.nih.gov/31961910/) transduces signals from IL-12, IL-23, and type I interferon receptors — the same pathways targeted by modern...

rs2413450 Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin levels — adds locus-depth coverage of the TMPRSS6 iron-regulation axis beyond the primary Ala736Val missense variant

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

TMPRSS6() sits at the centre of the body's iron-sensing machinery. Its most studied variant — Ala736Val (rs855791) — is the single strongest common genetic determinant of iron status. rs2413450 is a second, independent marker at the same locus: an intronic variant located approximately 426 nucleotides downstream of...

rs26653 Missense variant (Arg127Pro) in ERAP1 that subtly alters ER peptide trimming kinetics, increasing autoimmune risk for psoriasis and ankylosing spondylitis particularly in individuals carrying HLA-C*06:02 or HLA-B27; association is strongest for disease onset in adolescence

Chromosome 5 Risk Allele G Category Psoriasis & Spondyloarthropathy Tags Immune System, Autoimmune, MHC Antigen Presentation, Inflammation, Psoriasis, Arthritis

Every cell in your body constantly displays a sample of its internal protein inventory on its surface, using molecules of the MHC class I system(https://pubmed.ncbi.nlm.nih.gov/21743469/) as display platforms. Before a peptide can be loaded, it must first be trimmed to the right length inside the endoplasmic...

rs267607353 Rare pathogenic missense variant in the VWF A3 collagen-binding domain causing isolated collagen-binding deficiency (type 2M/2CB von Willebrand disease) with normal multimers but impaired platelet adhesion to subendothelial collagen

Chromosome 12 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Cardiovascular, Blood Clotting, Genetic Counseling, Carrier Status, Thrombophilia

Von Willebrand factor (VWF) performs two simultaneous jobs inside a damaged blood vessel: it rolls out like a molecular carpet to which platelets can stick, and it ferries coagulation Factor VIII(https://pubmed.ncbi.nlm.nih.gov/19687512/) to the site of injury. Both jobs require VWF's three functional domains — A1...

rs2747648 3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity; the C allele strengthens microRNA-mediated ESR1 repression while the T allele weakens it, raising ESR1 protein levels and increasing premenopausal breast cancer risk

Chromosome 6 Risk Allele T Category Reproductive Hormones Tags Estrogen, Fertility, Reproductive Health, Breast Cancer, Women's Health, Menopause

Estrogen receptor alpha (ERα), encoded by ESR1 on chromosome 6, is the master mediator of estrogen's effects throughout the reproductive system, skeleton, breast, and cardiovascular tissues. ERα regulates the timing of puberty and menopause, drives follicular development in the ovary, governs endometrial...

rs28362491 Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and increasing cardiovascular and inflammatory disease susceptibility

Chromosome 4 Risk Allele D Category Innate Immunity & Infection Defense Tags Innate Immunity, Inflammation, Cardiovascular, Autoimmune, Immune Response, TLR Signaling

Nuclear factor kappa B (NF-κB) is the master switch of the human inflammatory response. When your immune cells sense a pathogen, tissue damage, or oxidative stress, NF-κB activates dozens of genes that mount the immune defense — but it also activates inhibitory proteins (like IκBα) that eventually turn the response...

rs3077 Regulatory variant in the 3′ UTR of HLA-DPA1 that controls surface expression of HLA-DP antigen-presenting molecules; G allele reduces HLA-DPA1 mRNA expression and increases susceptibility to chronic hepatitis B infection while impairing HBV vaccine antibody response

Chromosome 6 Risk Allele G Category Interferon Signaling & Systemic Autoimmune Tags HLA, Infectious Disease, Liver Disease, Vaccination, Immune & Antiviral, Immune Response

The HLA-DPA1 gene(https://pubmed.ncbi.nlm.nih.gov/21346778/) sits at the centre of how your immune system recognises and clears hepatitis B virus (HBV). The rs3077 variant sits in the 3′ untranslated region of this gene — not altering the protein itself, but controlling how much of it gets made. The G allele at this...