Research — GeneOps

rs231806 Upstream regulatory variant in the CTLA4 MH30 region associated with latent autoimmune diabetes in adults (LADA); the G allele reduces soluble CTLA-4 expression and is linked to the disease-risk haplotype

Chromosome 2 Risk Allele G Category Autoimmune Tolerance & T-Cell Regulation Tags Immune & Autoimmune, T-Cell Regulation, Type 1 Diabetes, Diabetes, Autoimmune, Inflammation

CTLA-4 is one of the immune system's most critical brakes — a checkpoint receptor expressed on activated T cells that prevents them from attacking the body's own tissues. While much attention has focused on coding and 3'UTR variants in CTLA4, the far-upstream regulatory landscape also influences how much CTLA-4 the...

rs234709 Intronic CBS variant that tags the CBS locus in GWAS studies; associated with altered homocysteine metabolism capacity and one-carbon methylation efficiency

Chromosome 21 Risk Allele T Category Vitamins & Nutrient Absorption Tags Methylation, Homocysteine, B Vitamins, Cardiovascular, Detoxification

The CBS gene encodes cystathionine beta-synthase, a vitamin B6-dependent enzyme located on chromosome 21. CBS sits at the critical junction where the methylation and transsulfuration pathways diverge: it irreversibly diverts homocysteine away from the methylation cycle and toward cysteine and glutathione synthesis....

rs2456181 Intronic variant near ZNF346 and FGFR4 on chromosome 5q35.2, associated with uterine fibroid (leiomyoma) risk via cis-eQTL upregulation of FGFR4 and UIMC1

Chromosome 5 Risk Allele G Category Endometriosis & Uterine Health Tags Reproductive Health, Fertility, Uterine Fibroids, Hormones, Women's Health

Uterine fibroids (leiomyomas) are benign tumors of the uterine smooth muscle that affect up to 70–80% of women by age 50, though only about 20–25% experience significant symptoms. They are the most common benign gynecological tumor globally and the leading indication for hysterectomy. While most fibroids are managed...

rs2479106 Intronic variant in the androgen-regulating DENND1A gene associated with polycystic ovary syndrome (PCOS) risk; the G allele is linked to increased PCOS susceptibility and elevated post-load insulin levels, primarily in East Asian and Han Chinese populations

Chromosome 9 Risk Allele G Category Fertility & Ovarian Function Tags PCOS, Fertility, Reproductive Health, Hormones, Testosterone, Insulin

Polycystic ovary syndrome affects 5–15% of women of reproductive age and is the leading cause of anovulatory infertility worldwide. One of its defining features is hyperandrogenism(https://pubmed.ncbi.nlm.nih.gov/21151128/). A landmark 2011 genome-wide association study identified a cluster of variants in the...

rs27524 Intronic ERAP1 variant that increases expression, raising psoriasis risk specifically in HLA-C*06:02 carriers through enhanced autoantigen trimming

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

Psoriasis is one of the most common chronic autoimmune skin diseases, driven by aberrant activation of CD8+ T cells(https://pubmed.ncbi.nlm.nih.gov/34580106/) against skin melanocytes. The key to understanding this SNP lies inside the endoplasmic reticulum (ER) of every cell. Before a peptide can be displayed on the...

rs28673647 Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele confers ~6.7% higher ADAMTS13 concentration, boosting VWF-cleaving capacity and reducing thrombotic risk — AA homozygotes have the lowest genetically determined ADAMTS13 activity

Chromosome 9 Risk Allele A Category Von Willebrand & Anticoagulant Proteins Tags Thrombosis, Blood Clotting, Cardiovascular, Heart Disease, Venous Health, Endothelial Health, Thrombophilia

Every time a blood vessel is damaged, von Willebrand factor (VWF)(https://www.ncbi.nlm.nih.gov/gene/7450) floods the injury site, unfurling into enormous multimers that recruit platelets to form the initial clot. Left unchecked, these ultra-large VWF multimers would persist in the circulation and trigger dangerous...

rs28934880 Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; homozygotes develop salt-wasting congenital adrenal hyperplasia, heterozygous carriers are clinically normal but can pass the allele to offspring

Chromosome 1 Risk Allele A Category Reproductive Hormones Tags Steroid Hormones, Steroid Metabolism, Fertility, Reproductive Health, Carrier Status, Congenital

3β-hydroxysteroid dehydrogenase type 2(https://www.ncbi.nlm.nih.gov/gene/3284) is indispensable for the biosynthesis of all major steroid hormones — mineralocorticoids (aldosterone), glucocorticoids (cortisol), and sex steroids (testosterone, estrogens). The enzyme is expressed in both the adrenal cortex and the...

rs352140 Synonymous variant in TLR9 that increases receptor expression, amplifying innate immune responses to bacterial and viral DNA via CpG motif recognition

Chromosome 3 Risk Allele T Category Innate Immunity & Infection Defense Tags Innate Immunity, Infectious Disease, Immune & Gut, Inflammation, Autoimmune, Immune System

Toll-like receptor 9 (TLR9)(https://www.ncbi.nlm.nih.gov/gene/54106) is one of the body's most important early-warning sensors for microbial invasion. The rs352140 variant, located in exon 2 of the TLR9 gene at position 2848 of the coding sequence, is synonymous at the protein level — the amino acid sequence of TLR9...

rs387907018 Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuvelin cleavage and causes iron-refractory iron deficiency anemia (IRIDA) by preventing hepcidin suppression

Chromosome 22 Risk Allele T Category Iron & Mineral Transport Tags Iron, Micronutrients, Carrier Status, Vitamins

Your body's ability to absorb dietary iron is governed by a small hormone called hepcidin(). Under normal conditions, when iron stores are low, hepcidin falls and the gut absorbs more iron. This feedback loop is maintained by matriptase-2(https://pubmed.ncbi.nlm.nih.gov/18976966/). The rs387907018 variant (also...

rs3918226 NOS3 promoter variant that reduces eNOS expression and increases hypertension risk by disrupting an ETS transcription factor binding site

Chromosome 7 Risk Allele T Category Blood Pressure & Hypertension Tags Cardiovascular, Nitric Oxide, Hypertension, Blood Pressure, Endothelial Health, Heart Disease

Endothelial nitric oxide synthase (eNOS), encoded by NOS3, is the enzyme that keeps blood vessels relaxed and healthy. By producing nitric oxide (NO) in the inner lining of blood vessels, eNOS lowers blood pressure, prevents clot formation, and dampens inflammation. rs3918226 sits in the promoter region of NOS3 —...