Research — GeneOps

rs1057910 No-function CYP2C9 variant with major warfarin implications

Chromosome 10 Risk Allele C Category Pharmacogenomics Tags Drug Metabolism, Warfarin, Pain Medication, Cannabis, Endocannabinoid

The CYP2C93 allele| rs1057910 has a more severe impact on enzyme function than 2. While 2 reduces activity to about 50%, 3 reduces it to approximately 5-15% of normal. This makes 3 the most clinically impactful CYP2C9 variant for warfarin dosing. The Mechanism The 3 variant causes an isoleucine-to-leucine...

rs1060502581 Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) that truncates the kinase domain; hereditary cause of pulmonary arterial hypertension with incomplete penetrance and autosomal dominant inheritance

Chromosome 2 Risk Allele T Category Vascular Inflammation & Remodeling Tags Cardiovascular, Heart Disease, Hypertension, Carrier Status, Genetic Counseling, Fibrosis

The blood vessels that carry blood from the right heart through the lungs depend on a protein called BMPR2(https://medlineplus.gov/genetics/gene/bmpr2/) to suppress abnormal muscle growth in the pulmonary artery walls. When this receptor is absent or defective, the tiny arteries in the lungs slowly narrow and...

rs10758669 Intergenic variant near JAK2 that increases JAK2 expression and JAK-STAT signaling, disrupting intestinal barrier function and increasing IBD susceptibility

Chromosome 9 Risk Allele C Category IBD & Mucosal Immunity Tags Immune & Gut, Gut Barrier, IBD, Inflammatory Bowel Disease, Crohn's Disease, Ulcerative Colitis

The JAK2 gene encodes Janus Kinase 2, a critical signal transduction enzyme in the JAK-STAT pathway(https://pubmed.ncbi.nlm.nih.gov/34577540/). The rs10758669 variant sits in an intergenic region near JAK2 on chromosome 9p24 and was first identified as a Crohn's disease susceptibility locus in a landmark...

rs10849448 Regulatory variant in the lymphotoxin beta receptor gene associated with increased susceptibility to recurrent throat infections and tonsillectomy

Chromosome 12 Risk Allele A Category Innate Immunity & Infection Defense Tags Innate Immunity, Infection Risk, Immune Function, Respiratory Infections, Lymphatic, Autoimmune

Your tonsils are not just an annoyance — they are the front-line training grounds of your immune system, strategically positioned at the gateway between the outside world and your body. Lymphotoxin beta receptor (LTBR)(https://www.ncbi.nlm.nih.gov/gene/4055) is the master organizer of these structures. Without...

rs10865710 PPARG promoter-region enhancer variant that reduces PPARgamma expression, increasing risk for metabolic disease, coronary artery disease, and impaired insulin signalling

Chromosome 3 Risk Allele G Category Fat Storage & Energy Tags Diabetes, Insulin, Cardiovascular, Fat Metabolism, Metabolic, Adipogenesis

PPARG| Full name: Peroxisome Proliferator-Activated Receptor Gamma — a nuclear receptor that controls adipocyte differentiation, fatty acid storage, and insulin sensitisation is the master regulator of fat-cell biology. Unlike the well-studied Pro12Ala coding variant (rs1801282), the C-681G variant (rs10865710) sits...

rs10938397 GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-mediated glucose homeostasis and adipogenesis, increasing BMI risk

Chromosome 4 Risk Allele G Category Appetite & Obesity Tags Obesity, Metabolic, Fat Metabolism, Diabetes, Insulin Resistance, Diet

rs10938397 sits in a regulatory region near GNPDA2 (glucosamine-6-phosphate deaminase 2) on chromosome 4p12 and was identified in the landmark GIANT consortium GWAS(https://pubmed.ncbi.nlm.nih.gov/19079261/) as one of six new obesity-associated loci, with a per-allele BMI increase of 0.19 kg/m² and a combined...

rs10947690 Missense variant in the inhibitory synapse regulator MDGA1 that impairs neuroligin-2/neurexin interaction, reducing GABAergic tone and increasing insomnia risk

Chromosome 6 Risk Allele G Category Hormones & Sleep Tags Sleep, Neurotransmitters, Brain Health, Mental Health, Anxiety

Deep sleep depends on the brain's ability to quiet itself. That quieting is controlled by GABAergic neurons(https://pubmed.ncbi.nlm.nih.gov/28641111/) — and the precise assembly of their synapses is governed by a molecular handshake between two proteins: neuroligin-2 (NL2) and neurexin. MDGA1 (MAM Domain Containing...

rs10980705 Upstream regulatory variant that increases LPAR1 transcriptional activity in synovial cells, associated with elevated knee osteoarthritis susceptibility in Japanese populations

Chromosome 9 Risk Allele T Category Fitness & Body Tags Joints, Cartilage, Inflammation, Injury Risk, Arthritis, Sports Injury

Every time a joint sustains injury or mechanical stress, a lipid signal called lysophosphatidic acid (LPA)(https://pubmed.ncbi.nlm.nih.gov/25464168/) floods the damaged tissue. LPA binds to a family of receptors embedded in the surface of cartilage cells, synovial fibroblasts, and bone stromal cells. The first and...

rs11031006 Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, dizygotic twinning, PCOS susceptibility, age at menopause, and male reproductive parameters

Chromosome 11 Risk Allele A Category Fertility & Ovarian Function Tags Fertility, Hormones, Gonadotropins, Reproductive Health, Male Fertility, PCOS

Follicle-stimulating hormone (FSH) is the master regulator of follicle development in women and spermatogenesis in men. It is produced by the pituitary gland when the beta-subunit gene FSHB(https://pubmed.ncbi.nlm.nih.gov/27132594/) is transcribed and translated. rs11031006 is a G-to-A variant located approximately...

rs11071559 Intronic variant in the circadian clock regulator RORA; the T allele is protective against asthma in European cohorts with genome-wide significant replication

Chromosome 15 Risk Allele C Category Allergy & Atopic Disease Tags Circadian, Sleep, Asthma, Inflammation, Immune Function

RORA (RAR-related Orphan Receptor Alpha) occupies a dual role in human biology: it is a core activator of the circadian clock(https://pubmed.ncbi.nlm.nih.gov/15312651/) and a key regulator of immune tolerance in the airways. The rs11071559 variant sits in the first intron of the RORA-1 transcript on chromosome...