Research — GeneOps

rs1539243 Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags an IKBKE haplotype associated with increased SLE susceptibility through dysregulated type I interferon signaling, and has been implicated in antiviral innate immunity

Chromosome 1 Risk Allele C Category Psoriasis & Spondyloarthropathy Tags Autoimmune, Lupus, Interferon, Innate Immunity, Immune & Autoimmune, Inflammation

The IKBKE gene(https://pubmed.ncbi.nlm.nih.gov/21179067/) plays a dual role in human immunity that has made it one of the more interesting targets in autoimmune genetics. When a virus enters the body and triggers innate immune sensors, IKKε is one of the kinases that phosphorylates IRF3 and IRF7 — the transcription...

rs1545843 Intronic variant reducing SLC6A15 expression in hippocampus; AA carriers show increased susceptibility to major depression and hyperactive HPA stress responses

Chromosome 12 Risk Allele A Category Mood & Behavior Tags Depression, Mental Health, HPA Axis, Stress Response, Neurotransmitters, Cognition

SLC6A15(https://pubmed.ncbi.nlm.nih.gov/21521612/) is a transporter expressed almost exclusively in neurons that shuttles neutral branched-chain amino acids(https://pubmed.ncbi.nlm.nih.gov/21521612/) into brain cells. These amino acids serve as a substrate pool for glutamate synthesis, making SLC6A15 a key regulator...

rs16840252 Upstream promoter variant (~1147 bp 5' of CTLA4) tagging an autoimmune-associated haplotype block that influences T-cell checkpoint gene expression and susceptibility to lupus, Graves' ophthalmopathy, RA, and ANCA-associated vasculitis

Chromosome 2 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Tags Immune & Autoimmune, Autoimmune, Inflammation, Lupus, T-Cell Regulation, Biologic Therapy

CTLA-4 is the immune system's master checkpoint — a protein on activated T cells that competes with the stimulatory receptor CD28 for binding to B7 ligands (CD80/CD86) on antigen-presenting cells. When CTLA-4 wins this competition it delivers an inhibitory signal that dampens T-cell activation, preventing excessive...

rs16991615 Missense variant in the MCM8 DNA repair helicase associated with ovarian reserve and age at natural menopause; the A allele is linked to higher AMH levels and later menopause onset.

Chromosome 20 Risk Allele A Category Fertility & Ovarian Function Tags Ovarian Reserve, Menopause, Fertility, DNA Repair, Reproductive Health, Male Fertility

Every egg in a woman's ovaries was formed before birth and has been waiting, arrested mid-way through meiosis, ever since. Keeping those eggs healthy over decades requires continuous DNA repair — and MCM8 is one of the key proteins doing that work. The E341K variant (rs16991615) in this gene is one of the most...

rs17301739 Intronic LIPC variant associated with circulating DHA and omega-3 fatty acid levels via hepatic lipase-mediated LPC-DHA generation

Chromosome 15 Risk Allele G Category Triglycerides & Fatty Acids Tags Fat Metabolism, Omega-3, Cholesterol, Cardiovascular, Alzheimer's

Hepatic lipase (HL), encoded by LIPC, is a multifunctional enzyme produced by liver cells and secreted into the bloodstream. It hydrolyzes triglycerides and phospholipids in circulating lipoproteins — especially HDL and IDL — playing a dual role in HDL remodeling and in generating a specific...

rs1799750 Promoter polymorphism affecting MMP1 expression and collagen degradation rate, influencing photoaging severity and UV-induced skin damage

Chromosome 11 Risk Allele I Category Skin & Eyes Tags Skin, Hair & Pigmentation, Cardiovascular, Diet, Detoxification, Aging, Collagen

Matrix metalloproteinase-1 (MMP-1), also known as collagenase-1, is the primary enzyme responsible for breaking down type I and type III collagen in human skin. While this process is essential for normal tissue remodeling and wound healing, excessive MMP-1 activity drives...

rs1800386 Low-penetrance variant in von Willebrand factor that causes enhanced protein clearance; carriers have a 78-fold higher odds of reduced VWF antigen levels and elevated risk of mild bleeding, though only ~24% of heterozygotes have measurably low VWF

Chromosome 12 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Women's Health, Thrombosis, Reproductive Health, Thrombophilia

Von Willebrand factor (VWF) is the central hemostatic protein that acts as both a molecular glue — binding platelets to damaged vessel walls — and a carrier protein that shields coagulation Factor VIII from degradation. The Tyr1584Cys variant(https://pubmed.ncbi.nlm.nih.gov/38040335/) is a missense change in VWF...

rs1800450 Missense variant disrupting mannose-binding lectin oligomerization, reducing serum MBL 5-10-fold and impairing complement-mediated opsonization of bacteria, viruses, and fungi

Chromosome 10 Risk Allele T Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Complement, Immune System, Vaccination, Respiratory Infections, Complement System

Mannose-binding lectin (MBL)(https://pmc.ncbi.nlm.nih.gov/articles/PMC7169806/) is one of the body's most ancient front-line defenses. Before antibodies ever form, MBL patrols the bloodstream, binding to mannose and N-acetylglucosamine patterns on bacteria, viruses, fungi, and parasites — patterns that are common on...

rs1800630 TNF promoter variant that disrupts NF-κB p50-p50 binding, reducing TNF-alpha production by ~31% and influencing susceptibility to autoimmune disease and biologic treatment response

Chromosome 6 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Tags Immune & Autoimmune, Inflammation, Anti-TNF Biologics, Lupus, Rheumatoid Arthritis

The TNF gene on chromosome 6 encodes tumor necrosis factor-alpha(https://www.ncbi.nlm.nih.gov/gene/7124). Most attention in TNF genetics falls on the well-known -308GA variant (rs1800629), but the promoter contains multiple independent regulatory sites. The -863CA variant sits 863 base pairs upstream of the TNF...

rs1800730 Third HFE variant associated with hemochromatosis; mildly impairs iron regulation and raises transferrin saturation when coinherited with C282Y or H63D

Chromosome 6 Risk Allele T Category Iron & Mineral Transport Tags Iron, Hemochromatosis, Minerals, Cardiovascular, Liver Health, Micronutrients

The HFE gene encodes the hereditary hemochromatosis protein(), the master regulator of how much iron your gut absorbs each day. Most people are familiar with the two major HFE variants — C282Y (rs1800562) and H63D (rs1799945) — but a third variant, Ser65Cys (S65C), lurks at lower frequency and carries its own...