Research — GeneOps

rs6797312 Intronic variant in the neuroserpin gene; the A allele has been associated with early-onset ischemic stroke in Caucasian women in an ancestry-specific dominant model

Chromosome 3 Risk Allele A Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Cerebrovascular, Fibrinolysis, Inflammation, Blood Clotting, Thrombophilia

Neuroserpin(https://www.ncbi.nlm.nih.gov/snp/rs6797312) is a serine protease inhibitor expressed primarily in neurons. Its principal job is to regulate tissue-type plasminogen activator (tPA)(https://pubmed.ncbi.nlm.nih.gov/35122213/). The rs6797312 variant sits in intron 1 of SERPINI1 and does not change the...

rs7030781 Chromosome 9 regulatory co-variant near a lncRNA locus that co-segregates with VEGFA-pathway GWAS signals; T allele may associate with altered circulating VEGF levels influencing angiogenic capacity and vascular remodeling

Chromosome 9 Risk Allele T Category Vascular Inflammation & Remodeling Tags Angiogenesis, Cardiovascular, Endothelial Health, Growth Factors, Venous Health, Inflammation

Circulating vascular endothelial growth factor A (VEGFA) levels are among the most heritable quantitative traits in the human genome, with genetic architecture spanning multiple loci. The primary genetic determinant of circulating VEGF levels maps to the 6p21.1 region near the VEGFA gene — but GWAS studies of...

rs7498665 Obesity GWAS missense variant in SH2B1 that impairs leptin signaling and increases visceral fat and type 2 diabetes risk

Chromosome 16 Risk Allele G Category Appetite & Obesity Tags Obesity, Leptin, Insulin Resistance, Fat Metabolism, Diabetes, Nutrition & Metabolism

SH2B1 (SH2B Adaptor Protein 1) is not a hormone or a receptor — it is the adaptor protein() that turns up the volume on two of the body's most important weight-control signals: leptin and insulin. When SH2B1 works properly, it binds to activated JAK2(), dramatically amplifying its catalytic activity and extending...

rs7517847 Intronic IL23R variant in which the T allele increases susceptibility to Crohn's disease, ulcerative colitis, and ankylosing spondylitis, while the G allele is protective — independent of the rs2201841 risk signal at the same locus

Chromosome 1 Risk Allele T Category IBD & Mucosal Immunity Tags Immune & Gut, Autoimmune, IBD, Psoriasis, Arthritis, Inflammation

When researchers published the first genome-wide association study to identify IL23R as an inflammatory bowel disease gene in 2006, rs7517847 was the single most significant marker in the entire locus(https://pubmed.ncbi.nlm.nih.gov/17068223/). That study found the less common G allele was dramatically less frequent...

rs8018720 Missense variant in the COPII vesicle coat protein SEC23A, associated with circulating 25-hydroxyvitamin D levels through proposed effects on secretory pathway efficiency

Chromosome 14 Risk Allele C Category Metabolic Enzymes & Rare Disorders Tags Vitamin D, Micronutrients, Immune System, Bone Health, Supplement

Most vitamin D research focuses on the four classic loci — the skin synthesis enzyme DHCR7, the liver hydroxylase CYP2R1, the transport protein GC, and the catabolic enzyme CYP24A1. In 2018, a large genome-wide association study added two new players to this network, one of which sits in an unexpected place: a gene...

rs932764 Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevated systolic and diastolic blood pressure; the G allele has been linked in large GWAS to modestly higher blood pressure and, through shared genetic architecture, to increased susceptibility to preeclampsia and other hypertensive disorders of pregnancy

Chromosome 10 Risk Allele G Category Endometriosis & Uterine Health Tags Preeclampsia, Fertility, Reproductive Health, Blood Pressure, Cardiovascular

Preeclampsia — the sudden onset of high blood pressure and proteinuria after 20 weeks of pregnancy — is one of the leading causes of maternal and fetal mortality worldwide, affecting 2–8% of pregnancies. Although its origins are multifactorial, genetic predisposition to elevated blood pressure plays a measurable...

rs1801275 Gain-of-function missense variant in the IL-4 receptor alpha chain that amplifies Th2 immune signaling, increasing susceptibility to asthma, atopic dermatitis, and allergic disease

Chromosome 16 Risk Allele G Category Allergy & Atopic Disease Tags Immune & Gut, Immune System, Asthma, Inflammation, Skin Health

The IL4R gene(https://www.ncbi.nlm.nih.gov/gene/3566) encodes the alpha chain of the interleukin-4 receptor, a critical gatekeeper in the immune system's decision to mount allergic-type (Th2) responses. The Q576R variant (rs1801275) is a single nucleotide change (AG) that replaces glutamine with arginine at position...

rs1801394 B12 recycling enzyme — regenerates active B12 for the methylation cycle

Chromosome 5 Risk Allele G Category Methylation & Detox Tags Methylation, B Vitamins, Homocysteine

Methionine synthase reductase (MTRR) is a critical support enzyme in the methylation cycle. Its job is to reactivate methionine synthase (MTR) after it becomes oxidized and inactive during normal operation. Think of MTRR as the maintenance crew that keeps the methylation assembly line running. The Mechanism MTR uses...

rs1906252 Regulatory variant at chromosome 6q16.1 near POU3F2 (BRN2), a master transcription factor for cortical neuron development; the A allele is associated with higher general cognitive ability and educational attainment in GWAS studies totalling over 1 million individuals

Chromosome 6 Risk Allele A Category Neurology & Cognition Tags Brain Health, Neurological Risk, Cognition, Neuroplasticity, Memory

One of the most consistently replicated loci in the genetics of human cognition sits on chromosome 6q16.1. The rs1906252 variant is located within a large uncharacterised non-coding RNA at chr6:98,102,413 (GRCh38), approximately 730 kilobases upstream of POU3F2(https://www.ncbi.nlm.nih.gov/gene/5454). The gap in...

rs2059807 Intronic INSR variant associated with PCOS susceptibility and metabolic syndrome risk through altered insulin receptor signaling

Chromosome 19 Risk Allele G Category Blood Sugar & Diabetes Tags Insulin, Insulin Resistance, PCOS, Metabolic Syndrome, Hormones, Diabetes

The insulin receptor (INSR) gene encodes the cell-surface receptor that binds insulin and triggers glucose uptake in muscle, fat, and liver. When this signaling cascade() works efficiently, blood sugar stays stable after meals. rs2059807 is an intronic variant — it does not change the protein directly — but it may...