Research — GeneOps

rs182506368 Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers with near-normal zinc absorption

Chromosome 8 Risk Allele T Category Vitamins & Nutrient Absorption Tags Zinc, Minerals, Micronutrients, Carrier Status, Genetic Counseling, Skin Health

Your body cannot synthesize zinc — every atom must enter through the intestinal wall. The protein that makes this possible is ZIP4(https://pubmed.ncbi.nlm.nih.gov/12068297/). When both copies of SLC39A4 carry loss-of-function mutations, dietary zinc simply cannot cross the gut wall. The result — hereditary...

rs1978060 Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression and increases susceptibility to adolescent idiopathic scoliosis; TBX1 is the principal gene responsible for DiGeorge syndrome and governs pharyngeal arch and spinal musculature development

Chromosome 22 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Embryo Development, Immune System, Infection Risk, T-Cell Regulation, Hearing Loss

TBX1(https://omim.org/entry/602054) is best known as the gene whose haploinsufficiency causes DiGeorge syndrome(https://www.ncbi.nlm.nih.gov/gene/6899). Rare catastrophic TBX1 deletions displace entire developmental programmes. But common intronic variants like rs1978060 operate more subtly: they modulate how much...

rs201007090 Nonsense mutation in coagulation factor XI creating a premature stop codon, causing severe factor XI deficiency with surgical bleeding risk especially at high-fibrinolysis sites

Chromosome 4 Risk Allele A Category Coagulation & Clotting Factors Tags Blood Clotting, Thrombophilia, Cardiovascular, Carrier Status, Genetic Counseling, Anesthesia

Every time blood vessels are injured, a cascade of proteins amplifies the initial clotting signal to rapidly seal the wound. Factor XI(https://pubmed.ncbi.nlm.nih.gov/18312365/) sits near the middle of this cascade, acting as an amplifier that sustains thrombin generation after an initial clot forms. The rs201007090...

rs2066808 Intronic variant near IL23A encoding the IL-23 p19 subunit; G allele increases psoriasis and psoriatic arthritis risk through elevated IL-23 signalling and Th17 activation

Chromosome 12 Risk Allele G Category Psoriasis & Spondyloarthropathy Tags Immune & Autoimmune, Psoriasis, Inflammation, Biologic Therapy, Skin, Inflammatory Bowel Disease

The rs2066808 variant lies within an intron of the STAT2 gene but sits immediately adjacent to IL23A on chromosome 12q13.3, and is the primary genome-wide association signal(https://pubmed.ncbi.nlm.nih.gov/19169254/) for the IL23A locus in psoriasis. IL23A encodes the p19 subunit — the half of interleukin-23 that is...

rs2075674 Synonymous coding variant in transferrin receptor 2 with potential splice-modifying activity, associated with age-related macular degeneration in case-control studies via iron-mediated retinal oxidative stress

Chromosome 7 Risk Allele A Category Iron & Mineral Transport Tags Iron, Eye Health, Retinal Health, Oxidative Stress, Liver Health, Micronutrients

The TFR2 gene encodes transferrin receptor 2, a sensor protein expressed primarily in hepatocytes and erythroid precursors that detects iron bound to transferrin in the bloodstream and helps calibrate the master iron hormone hepcidin(https://pubmed.ncbi.nlm.nih.gov/25352340/). rs2075674 is a synonymous coding...

rs2078267 Intronic variant in the OAT4 renal urate transporter that modulates uric acid reabsorption in the proximal tubule, with the C allele raising serum urate and increasing gout risk especially in diuretic users

Chromosome 11 Risk Allele C Category Uric Acid & Kidney Function Tags Uric Acid, Gout, Diet, Cardiovascular

The kidney handles roughly 70% of daily uric acid elimination, and a network of transporters on the proximal tubule determines how much urate is reabsorbed back into the blood versus excreted into the urine. OAT4 (organic anion transporter 4)(https://pubmed.ncbi.nlm.nih.gov/34290818/) is one of these gatekeepers — a...

rs2104286 Intronic variant affecting IL-2 receptor alpha chain expression and soluble IL-2RA shedding — impairs T-regulatory cell signaling and increases autoimmune disease susceptibility

Chromosome 10 Risk Allele T Category Autoimmune Tolerance & T-Cell Regulation Tags Immune & Gut, Autoimmune, Type 1 Diabetes, Inflammation, Vitamin D, Immune & Autoimmune

The IL2RA gene(https://www.ncbi.nlm.nih.gov/gene/3559) encodes CD25, the alpha subunit of the interleukin-2 receptor. IL-2 signaling through this receptor is the central pathway(https://pubmed.ncbi.nlm.nih.gov/33055282/) for maintaining regulatory T cells (Tregs) — the immune cells responsible for preventing your...

rs2105325 Intronic variant in LOC100506023 (PRDX6-AS1) and TNFSF4 at the 1q25.1 locus, where the common C allele is associated with modestly increased rheumatoid arthritis risk across diverse populations

Chromosome 1 Risk Allele C Category TNF, NF-kB & Inflammatory Cytokines Tags Autoimmune, Rheumatoid Arthritis, Inflammation, Immune System, T-Cell Regulation

Rheumatoid arthritis (RA) is one of the most heritable common autoimmune diseases. Beyond the HLA region(https://pubmed.ncbi.nlm.nih.gov/35088123/), more than 150 confirmed non-HLA loci contribute modestly but measurably to RA susceptibility. rs2105325 sits at chromosome 1q25.1, a region containing two genes with...

rs2178575 An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ERBB4/HER4 signalling in granulosa cells, impairing intercellular junctions required for normal folliculogenesis and increasing PCOS susceptibility in European women

Chromosome 2 Risk Allele A Category Fertility & Ovarian Function Tags PCOS, Fertility, Ovarian Reserve, Hormones, Reproductive Health, Growth Factors

Inside every developing ovarian follicle, thousands of granulosa cells form a tightly coordinated network around the oocyte, communicating through gap junctions and paracrine signals to orchestrate its maturation. At the centre of this communication system sits ERBB4/HER4(https://www.ncbi.nlm.nih.gov/gene/2066), a...

rs2180439 Lead SNP at the 20p11 locus, the strongest autosomal genetic risk factor for androgenetic alopecia (male pattern baldness), affecting Wnt signaling pathways critical for hair follicle cycling

Chromosome 20 Risk Allele T Category Skin & Eyes Tags Skin, Hair & Pigmentation, Aging, Hormones

Male pattern baldness has long been blamed on testosterone and genes inherited from your mother's side. But the discovery of rs2180439 represents a paradigm shift(https://pubmed.ncbi.nlm.nih.gov/18849994/): this variant on chromosome 20 is inherited from either parent and appears to drive hair loss through a pathway...