Research — GeneOps

rs10835638 Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering serum FSH levels and impairing folliculogenesis in females and spermatogenesis in males

Chromosome 11 Risk Allele T Category Fertility & Ovarian Function Tags Fertility, Gonadotropins, Male Fertility, Ovarian Reserve, IVF, Reproductive Health

Every egg maturation cycle and every sperm development program depends on a precise dose of follicle-stimulating hormone (FSH). FSH is a two-subunit hormone: the alpha subunit is shared with LH, TSH, and hCG, but the beta subunit (FSHB)(https://www.ncbi.nlm.nih.gov/gene/2488) is unique to FSH and sets its production...

rs10841496 5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affecting cAMP metabolism in vascular smooth muscle and cardiac tissue

Chromosome 12 Risk Allele A Category Blood Pressure & Hypertension Tags Blood Pressure, Cardiovascular, Hypertension, Nitric Oxide, Heart Disease

Inside every vascular smooth muscle cell, a molecular tug-of-war determines whether your blood vessels relax or contract. On one side: cyclic AMP (cAMP), a signalling molecule that promotes vasodilation. On the other: phosphodiesterase 3A (PDE3A)(https://pubmed.ncbi.nlm.nih.gov/25961942/). The balance between cAMP...

rs10859871 Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increased endometriosis susceptibility across multiple GWAS meta-analyses; the C allele acts as a cis-eQTL increasing VEZT expression in blood and endometrial tissue, implicating disrupted adherens junction integrity in ectopic endometrial implantation

Chromosome 12 Risk Allele C Category Endometriosis & Uterine Health Tags Endometriosis, Fertility, Reproductive Health, Connective Tissue, Women's Health, Inflammation

Endometriosis — in which tissue resembling the uterine lining implants and grows outside the uterus — affects approximately 10% of women of reproductive age and accounts for a disproportionate burden of pelvic pain, dyspareunia, infertility, and diagnostic delay. The condition is strongly heritable; genetic factors...

rs10954213 3'UTR variant creating a functional polyadenylation site; A allele produces a shorter, more stable IRF5 mRNA isoform driving higher IRF5 protein levels and autoimmune disease risk

Chromosome 7 Risk Allele A Category Interferon Signaling & Systemic Autoimmune Tags Immune & Autoimmune, Inflammation, Interferon, Lupus, Connective Tissue, Innate Immunity

At the heart of the innate immune system sits a protein called IRF5 (Interferon Regulatory Factor 5)(https://pubmed.ncbi.nlm.nih.gov/17189288/). IRF5 is the key decision-maker that determines how vigorously your immune system responds to threats — but when it runs too high chronically, it becomes a driver of...

rs11057841 Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-mediated uptake of macular carotenoids (lutein, zeaxanthin) and beta-carotene from HDL particles; T allele carriers show up to 24% higher serum lutein per allele

Chromosome 12 Risk Allele C Category Cholesterol & Lipoproteins Tags Fat Metabolism, Eye Health, Retinal Health, Antioxidants, Beta-Carotene, Cardiovascular

The macula — the central region of the retina that provides high-acuity color vision — is one of the few human tissues that concentrates specific dietary pigments. Lutein and zeaxanthin accumulate there from the blood, forming the macular pigment(). The amount that reaches the macula depends on how much enters your...

rs1143627 Promoter variant that elevates IL-1β transcription, increasing risk of H. pylori-driven gastric cancer, chronic periodontitis, and inflammatory tissue damage

Chromosome 2 Risk Allele A Category TNF, NF-kB & Inflammatory Cytokines Tags Inflammation, Autoimmunity, Gastric Health, Periodontal Disease, Cancer Risk, Immune Response

Interleukin-1 beta (IL-1β) is one of the most potent pro-inflammatory cytokines in the body — it initiates fever, activates immune cells, induces other cytokines, and drives inflammation in virtually every tissue. The rs1143627 variant sits just 31 base pairs upstream of the IL1B transcription start site, in a...

rs115532916 Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causing loss of ACAD enzyme activity and impaired mitochondrial complex I assembly; homozygous or compound heterozygous carriers develop ACAD9 deficiency with cardiomyopathy, lactic acidosis, and exercise intolerance; riboflavin-responsive in a subset of patients

Chromosome 3 Risk Allele C Category Metabolic Enzymes & Rare Disorders Tags Mitochondria, Energy Metabolism, B Vitamins, Cardiovascular, Carrier Status, Heart Disease

Most people have never heard of ACAD9, yet it plays two essential roles inside every energy-demanding cell in the body. The protein encoded by ACAD9 — acyl-CoA dehydrogenase family member 9 — acts simultaneously as an enzyme that oxidizes long-chain fatty acids() and as an indispensable assembly factor for...

rs11556924 Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363) allele is protective against coronary artery disease (OR 0.90, p=2.4×10⁻¹⁷)

Chromosome 7 Risk Allele C Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Heart Disease, Atherosclerosis, Blood Pressure, Inflammation

Hidden in the machinery that controls cell division is an unexpected player in coronary artery disease. The ZC3HC1 gene(https://www.ncbi.nlm.nih.gov/snp/rs11556924) by controlling the nuclear accumulation of cyclin-B1, the key trigger of cell division. The rs11556924 variant swaps a single amino acid at position 363...

rs11726117 Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele is associated with elevated gout risk in East Asian populations through altered URAT1-mediated urate homeostasis and NF-κB inflammatory signaling

Chromosome 4 Risk Allele C Category Uric Acid & Kidney Function Tags Uric Acid, Gout, Inflammation, Innate Immunity, Kidney Function, Minerals

Most people think of gout as a disease of diet — too much red meat, beer, or shellfish. That is partly true. But your kidneys' ability to excrete uric acid is equally determined by genetics, and one of the less obvious players is ALPK1(). ALPK1 encodes a kinase best known as the master switch of the ALPK1-TIFA-NF-κB...

rs118204017 ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD deficiency; heterozygous carriers are asymptomatic but important to identify for reproductive counseling

Chromosome 17 Risk Allele C Category Liver Fat Tags Fat Metabolism, Mitochondria, Carrier Status, Energy Metabolism, Genetic Counseling, Reproductive Health

Your cells run on fat during fasting, prolonged exercise, and sleep. The first step of burning very long-chain fatty acids — chains of 14 to 20 carbons — depends on very long-chain acyl-CoA dehydrogenase (VLCAD)(https://pubmed.ncbi.nlm.nih.gov/20301763/), the enzyme encoded by ACADVL. When both copies of this gene...