Research — GeneOps

rs1008899 Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination capacity; the G allele associates with reduced blood pressure response to thiazide diuretics and salt-sensitive hypertension risk

Chromosome 18 Risk Allele G Category Blood Pressure & Hypertension Tags Hypertension, Blood Pressure, Salt Sensitivity, Kidney, Cardiovascular, Pharmacogenomics

Every time you eat a salty meal, your kidneys face a choice: retain that sodium or excrete it. The NEDD4L gene sits at the heart of this decision. It encodes NEDD4L (Neural Precursor Cell-Expressed Developmentally Downregulated 4-Like)(https://pubmed.ncbi.nlm.nih.gov/17487281/) in the kidney's collecting duct cells....

rs10093345 Intergenic GWAS locus near EIF4EBP1 (encoding the mTOR translation repressor 4E-BP1) where the T allele is associated with modestly lower circulating anti-Müllerian hormone (AMH), a key biomarker of ovarian reserve and fertility timing

Chromosome 8 Risk Allele T Category Endometriosis & Uterine Health Tags Ovarian Reserve, Fertility, Reproductive Health, mTOR Pathway, Hormones, Women's Health

Anti-Müllerian hormone (AMH) is a small protein secreted exclusively by the granulosa cells of growing ovarian follicles. Because it reflects the pool of actively developing follicles, circulating AMH levels serve as the most practical and cycle-stable biomarker of ovarian...

rs1010 Common 3'UTR variant in VAMP8 that disrupts a microRNA-96 binding site, elevating VAMP8 protein levels in platelets and increasing platelet degranulation — associated with modestly elevated myocardial infarction and noncardioembolic stroke risk

Chromosome 2 Risk Allele C Category Von Willebrand & Anticoagulant Proteins Tags Blood Clotting, Cardiovascular, Heart Disease, Thrombosis, Aspirin Response, Thrombophilia

When a platelet is activated at a site of vascular injury, it releases a cascade of pro-aggregatory molecules from its internal storage granules — a process called degranulation(https://pubmed.ncbi.nlm.nih.gov/19943878/). The molecular machinery that executes this release depends on a family of vesicle-docking...

rs10150332 Obesity and waist circumference GWAS hit in NRXN3 — links reward-circuit synaptic function to appetite dysregulation and addictive eating patterns

Chromosome 14 Risk Allele C Category Appetite & Obesity Tags Obesity, Appetite, Neurotransmitters, Addiction, Fat Metabolism, Brain Health

NRXN3 (Neurexin-3) is not a metabolic gene. It does not regulate insulin, store fat, or burn energy. It is a synaptic cell-adhesion molecule — one of a family of proteins that build and stabilize connections between neurons in the brain's reward and feeding circuits. Yet it was pulled out of genome-wide association...

rs1017861 Intronic variant in CHD7, a chromatin remodeler critical for neural crest cell and skeletal development; the G allele is associated with susceptibility to adolescent idiopathic scoliosis and may influence neural crest-derived tissue patterning including thymus and inner ear morphogenesis

Chromosome 8 Risk Allele G Category Innate Immunity & Infection Defense Tags Innate Immunity, Embryo Development, Bone & Joint, Infection Risk, Immune System, Sensorineural

CHD7(https://www.ncbi.nlm.nih.gov/gene/55636) is best known for its catastrophic role in CHARGE syndrome(https://omim.org/entry/214800). Rare mutations eliminate CHD7 function; common intronic variants like rs1017861 operate more subtly — modulating how the gene is expressed during critical developmental windows....

rs10181656 Intronic STAT4 tagging SNP on the primary SLE risk haplotype; the sentinel variant in studies linking STAT4 to ischemic cerebrovascular events and antiphospholipid antibody accumulation in lupus

Chromosome 2 Risk Allele G Category Interferon Signaling & Systemic Autoimmune Tags Lupus, Interferon, Autoimmune, Rheumatoid Arthritis, Cerebrovascular, Inflammation

STAT4 (Signal Transducer and Activator of Transcription 4) is a transcription factor that sits at the core of the IL-12 and interferon-alpha signaling cascade. When immune cells encounter pathogens or self-antigens, IL-12 and type I interferons activate JAK kinases, which phosphorylate STAT4, driving it into the...

rs10183486 Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chromatin-assembly kinase; each copy of the T allele may be associated with earlier age at natural menopause by approximately 10 weeks, suggesting a modest influence on ovarian reserve and reproductive lifespan

Chromosome 2 Risk Allele T Category Gamete Quality & DNA Repair Tags Ovarian Reserve, Fertility, Reproductive Health, Menopause, DNA Repair

The timing of menopause is one of the strongest proxies for the size and health of the ovarian reserve — the pool of follicles a woman is born with and slowly depletes across her reproductive life. Women who reach menopause earlier tend to have lower anti-Müllerian hormone...

rs10206753 Missense variant in IL1RL1 encoding the Leu551Ser amino acid change in the intracellular TIR signaling domain; the T (Leu551) allele tags a four-amino-acid risk haplotype that amplifies IL-33/ST2 receptor signaling, increasing susceptibility to asthma and chronic rhinosinusitis

Chromosome 2 Risk Allele T Category Allergy & Atopic Disease Tags Asthma, Inflammation, Biologic Therapy, Innate Immunity, Immune System, Autoimmune

The ST2 receptor encoded by IL1RL1 is the gateway through which IL-33(https://pmc.ncbi.nlm.nih.gov/articles/PMC7205441/) activates immune cells. When IL-33 docks onto ST2, the receptor's intracellular TIR domain(https://pmc.ncbi.nlm.nih.gov/articles/PMC7205441/) relays the signal inside the cell. The rs10206753...

rs1024611 Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocyte recruitment to arterial walls and elevating atherosclerotic plaque risk

Chromosome 17 Risk Allele G Category Vascular Inflammation & Remodeling Tags Atherosclerosis, Cardiovascular, Inflammation, Innate Immunity, Immune Response, Infection Risk

CCL2, also known as monocyte chemoattractant protein-1 (MCP-1), is the body's primary signal for drawing monocytes out of the bloodstream and into tissues. In healthy arteries, this recruitment is carefully controlled. In damaged or inflamed arteries, CCL2 expression surges, pulling monocytes into the arterial wall...

rs10305420 GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepatide weight loss efficacy but increases nausea and vomiting risk

Chromosome 6 Risk Allele T Category Pharmacogenomics Tags Drug Response, Diabetes, Obesity, Pharmacogenomics

The GLP-1 receptor (GLP1R) is the molecular target of semaglutide (Ozempic, Wegovy), tirzepatide (Mounjaro, Zepbound), liraglutide (Saxenda), and other GLP-1 agonist medications prescribed for weight loss and type 2 diabetes. rs10305420 causes a proline-to-leucine substitution at position 7 of the receptor's signal...