Research — GeneOps

rs10514168 Intergenic variant downstream of TSHZ1, a transcription factor essential for inner ear and auditory canal development; the A allele is associated with increased constitutional susceptibility to motion sickness via vestibular pathway architecture

Chromosome 18 Risk Allele A Category Neurology & Cognition Tags Hearing Loss, Sensory Processing, Brain Health, Neurological Risk, Congenital, Lifestyle

About one in three people is highly susceptible to motion sickness — nausea, dizziness, and malaise triggered by cars, boats, planes, or virtual environments. For most of them, this isn't a character flaw or a question of toughening up: a large portion of the variation is genetic, with twin studies estimating...

rs10519177 Intronic FBN1 variant that requires two copies of the G allele to impair fibrillin-1's TGF-β1 sequestration, elevating aortic dissection risk in a recessive pattern

Chromosome 15 Risk Allele G Category Cardiomyopathy & Structural Heart Tags Cardiovascular, Connective Tissue, Heart Disease, Extracellular Matrix, Inflammation

Fibrillin-1 is the primary structural protein of extracellular microfibrils(https://pubmed.ncbi.nlm.nih.gov/25583878/) in the aortic wall. Mutations in FBN1 cause Marfan syndrome, but the gene also harbors common intronic variants that, without causing Marfan syndrome, can subtly degrade the aortic wall's resistance...

rs1065852 Decreased function CYP2D6 variant common in Asian populations

Chromosome 22 Risk Allele A Category Pharmacogenomics Tags Drug Metabolism, Antidepressants, Pain Medication

The CYP2D610 allele| rs1065852 is the most common decreased-function variant worldwide. While it is most prevalent in East Asian populations (frequency 40-70%), it is also found at lower frequencies in European populations. Unlike the 4 allele which completely abolishes enzyme function, 10 produces a functional but...

rs11061946 Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed a markedly elevated risk of progression from impaired glucose tolerance to type 2 diabetes in a single Finnish cohort study, though evidence remains emerging and unreplicated.

Chromosome 12 Risk Allele T Category Fat Storage & Energy Tags Insulin Resistance, Metabolic Health, Diabetes, Fat Metabolism, Energy Metabolism

Adiponectin is one of the few adipokines that works against metabolic disease: it rises with fat loss, improves insulin sensitivity, suppresses hepatic glucose production, and triggers fatty acid oxidation(https://pubmed.ncbi.nlm.nih.gov/16823476/). The receptor through which adiponectin acts in the liver is ADIPOR2...

rs11152221 Intergenic variant in the proximal 3' regulatory block near MC4R associated with increased BMI, body fat percentage, elevated leptin, and severe obesity risk

Chromosome 18 Risk Allele T Category Appetite & Obesity Tags Appetite, Obesity, Metabolic, Fat Distribution, Leptin, Satiety

The melanocortin-4 receptor (MC4R) is the hypothalamic master switch for satiety and energy expenditure. When leptin signals through the POMC/α-MSH cascade(), MC4R tells the brain to stop eating. rs11152221 lies approximately 87 kilobases 3' of MC4R in the proximal LD block() — a region distinct from the more widely...

rs11229030 Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene cluster at 11q12.1 whose C allele increases susceptibility to Crohn's disease, implicating eosinophil granule protein-mediated epithelial damage in IBD pathogenesis

Chromosome 11 Risk Allele C Category Allergy & Atopic Disease Tags IBD, Crohn's Disease, Inflammation, Autoimmune, Gut Barrier, Immune & Gut

Inside your gastrointestinal tract, a normally protective immune cell may be working against you. Eosinophils — immune cells best known for fighting parasites and driving allergic reactions — reside in the gut wall as part of normal tissue defense. When activated, they discharge their granule contents, including...

rs11362 5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide expression in gut and mucosal epithelium, increasing susceptibility to colonic Crohn's disease and dental caries

Chromosome 8 Risk Allele T Category IBD & Mucosal Immunity Tags Innate Immunity, Gut Health, Immune & Gut, Crohn's Disease, Dental & Oral Health, Zinc

The surfaces lining your gut, mouth, and airways are under constant microbial assault. Beta-defensin 1 (hBD-1)(https://www.ncbi.nlm.nih.gov/gene/1672) is one of the body's key innate antimicrobial peptides, continuously secreted by epithelial cells to maintain the delicate boundary between host tissue and the...

rs1144566 Missense variant in RGS16 that substitutes histidine for arginine at position 137 of the G-protein signaling regulator expressed in the suprachiasmatic nucleus; the common C allele (Arg137, ~97.5% globally) has modestly reduced RGS16 function compared to the rare T allele (His137, ~2.5%), which is associated with morningness through enhanced cAMP gating in the master circadian clock

Chromosome 1 Risk Allele C Category Hormones & Sleep Tags Chronotype, Circadian, Sleep, Hormones, Brain Health

Every cell in your body runs on a roughly 24-hour molecular clock, but those clocks need a conductor to stay synchronized with each other and with the outside world. That conductor lives in the suprachiasmatic nucleus (SCN)() — and one of its critical molecular regulators is RGS16(). The rs1144566 variant changes a...

rs11572325 Intronic CYP2J2 variant associated with increased myocardial infarction risk and female-specific hypertension susceptibility through reduced epoxyeicosatrienoic acid (EET) production

Chromosome 1 Risk Allele T Category Vascular Inflammation & Remodeling Tags Cardiovascular, Heart Disease, Inflammation, Blood Pressure, Omega-3, Pharmacogenomics, Endothelial Health

Your heart produces its own endogenous cardioprotective molecules. CYP2J2 is a cytochrome P450 enzyme expressed predominantly in cardiomyocytes and vascular endothelial cells, where it converts arachidonic acid into epoxyeicosatrienoic acids (EETs)(https://pubmed.ncbi.nlm.nih.gov/15466638/). The intronic variant...

rs1159327 Intronic variant in estrogen receptor alpha associated with bone mineral density; the T allele is linked to lower BMD and may influence ESR1 expression in bone and reproductive tissues

Chromosome 6 Risk Allele T Category Reproductive Hormones Tags Estrogen, Bone Health, Fertility, Reproductive Health, Women's Health

The ESR1 gene encodes estrogen receptor alpha (ERα), the primary nuclear receptor through which estrogen orchestrates bone remodeling, reproductive function, and metabolism. ERα is expressed throughout the skeleton, uterus, ovary, breast, and cardiovascular system — making ESR1 variants some of the most broadly...