Research — GeneOps

rs963917 A 3' UTR variant in RAD51B that alters miRNA-616 binding efficiency and is associated with increased risk of rheumatoid arthritis and impaired DNA double-strand break repair in immune cells

Chromosome 14 Risk Allele A Category Allergy & Atopic Disease Tags DNA Repair, Double-Strand Break Repair, Rheumatoid Arthritis, Autoimmune, Inflammation, Genomic Stability

Your immune system requires constant genomic maintenance. Every time a T cell or B cell divides in response to an antigen, it must replicate its DNA accurately — and repair any breaks that occur. RAD51B is one of the molecular architects of this repair process, and variants in the gene's regulatory region alter how...

rs9923231 Warfarin sensitivity - determines initial dosing

Chromosome 16 Risk Allele T Category Pharmacogenomics Tags Drug Metabolism, Warfarin, Blood Thinners

VKORC1| Vitamin K Epoxide Reductase Complex Subunit 1 encodes the target enzyme of warfarin. While CYP2C9 determines how quickly you metabolize warfarin, VKORC1 determines how sensitive your body is to it. Together, these two genes account for about 40-50% of the variability in warfarin dose requirements between...

rs76904798 Common noncoding variant upstream of LRRK2 that increases gene expression in microglia and Parkinson's disease risk

Chromosome 12 Risk Allele T Category Neurology & Cognition Tags Parkinson's, Neurological Risk, Brain Health, Neuroinflammation, Neuroprotection, Lifestyle

While the LRRK2 G2019S mutation(https://pubmed.ncbi.nlm.nih.gov/38804604/) dominates headlines as the most common inherited cause of Parkinson's disease, rs76904798 represents something quite different — a common noncoding variant that subtly increases disease risk across entire populations. Located just upstream of...

rs992969 Regulatory variant upstream of IL33 encoding interleukin-33; the A allele increases IL33 expression in bronchial epithelium and raises risk for asthma, hay fever, and eczema across shared type-2 immune pathways

Chromosome 9 Risk Allele A Category Allergy & Atopic Disease Tags Asthma, Inflammation, Innate Immunity, Lung Health, Skin Health, Immune Response

Every time your airways encounter an allergen, virus, or airborne irritant, epithelial cells lining the bronchi release a distress signal called IL-33 (interleukin-33)(https://pubmed.ncbi.nlm.nih.gov/28273074/). The rs992969 A allele, located roughly 5 kilobases upstream of the IL33 gene on chromosome 9, increases...

rs7697073 Intronic SCARB2 variant associated with REM sleep behavior disorder risk via the lysosomal GBA-trafficking pathway — the molecular bridge between glucocerebrosidase delivery and alpha-synuclein clearance

Chromosome 4 Risk Allele T Category Neurology & Cognition Tags Parkinson's, Neurodegeneration, Autophagy, Neurological Risk, Sleep, Brain Health

Inside every neuron, the lysosome is the cell's recycling center — the organelle that breaks down damaged proteins before they can accumulate and aggregate. For the proteins that cause Parkinson's disease and related synucleinopathies, alpha-synuclein(https://pubmed.ncbi.nlm.nih.gov/25316793/), the lysosomal enzyme...

rs78117248 Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta clearance by microglia and impairs neuronal phosphatidylcholine metabolism, increasing Alzheimer's disease risk approximately twofold

Chromosome 19 Risk Allele G Category Neurology & Cognition Tags Alzheimer's, Neurodegeneration, Cognitive Decline, Dementia, Brain Health, Neuroinflammation

Your brain generates amyloid-beta peptides continuously, and healthy ageing depends on clearing them efficiently. ABCA7 — an ATP-binding cassette transporter expressed most highly in microglia and excitatory neurons — sits at the intersection of this clearance system and the brain's lipid economy. The rs78117248...

rs7958311 P2RX7 variant with a unique dual mechanism — gain-of-function in channel opening and loss-of-function in pore formation — associated with chronic pain susceptibility, neuroinflammation, and modulation of microglial signaling

Chromosome 12 Risk Allele A Category Neurology & Cognition Tags Pain Sensitivity, Neuroinflammation, Inflammation, Immune Function, Brain Health, Chronic Pain

The P2X7 receptor is an ATP-gated ion channel(https://pubmed.ncbi.nlm.nih.gov/37742908/) expressed abundantly on microglia, macrophages, and other immune cells. When extracellular ATP accumulates — as it does during inflammation, nerve injury, or cell death — P2X7 opens to admit calcium and potassium ions (channel...

rs8007267 Promoter variant affecting GTP cyclohydrolase 1 expression and pain sensitivity, with opposite effects in European vs African populations

Chromosome 14 Risk Allele T Category Neurology & Cognition Tags Pain Sensitivity, Nitric Oxide, Neurotransmitters, Cardiovascular

GTP cyclohydrolase 1 (GCH1) is the rate-limiting enzyme in the synthesis of tetrahydrobiopterin (BH4)(https://pubmed.ncbi.nlm.nih.gov/21466440/), and rs8007267 sits in the promoter region controlling its expression. This variant is one of three SNPs defining a haplotype with profound effects on pain...

rs80338939 The most common cause of autosomal recessive nonsyndromic hearing loss in Europeans; homozygous deletion eliminates connexin 26 function and causes severe-to-profound congenital deafness

Chromosome 13 Risk Allele D Category Neurology & Cognition Tags Hearing Loss, Sensorineural, Congenital, Carrier Status, Reproductive Health

The GJB2 gene encodes connexin 26 (Cx26), a gap-junction protein that forms channels between the epithelial support cells and fibrocytes lining the cochlear duct. These channels are essential for maintaining the ionic environment that hair cells need to convert sound vibrations into electrical nerve signals. The...

rs80338942 The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% carrier frequency); frameshift deletion eliminates connexin 26 function and causes congenital sensorineural hearing loss in homozygotes or compound heterozygotes

Chromosome 13 Risk Allele D Category Neurology & Cognition Tags Hearing Loss, Sensorineural, Congenital, Carrier Status, Reproductive Health

The GJB2 gene encodes connexin 26 (Cx26), a gap-junction protein that forms channels between the support cells lining the cochlear duct. These channels maintain the ionic environment that inner hair cells require to convert sound vibrations into electrical nerve signals. The 167delT variant — a deletion of a single...