Research — GeneOps

rs12946942 Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24.3 associated with increased susceptibility to severe adolescent idiopathic scoliosis (AIS) across multiple ethnic populations

Chromosome 17 Risk Allele T Category Innate Immunity & Infection Defense Tags Bone & Joint, Connective Tissue, Cartilage, Bone Health, Sports Injury, Growth Factors

Your spine's shape is determined early in skeletal development by a cascade of transcription factors that instruct cartilage and bone formation with extraordinary precision. SOX9(https://www.ncbi.nlm.nih.gov/gene/6662) sits at the top of this cascade, controlling when and where cartilage cells form, proliferate, and...

rs13196377 Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishes two independent psoriasis risk haplotypes; the minor A allele marks a secondary haplotype (OR=1.8 for psoriasis) while the common G allele co-segregates with the primary D10N risk haplotype (OR=2.7); together the four-SNP set provides full haplotype coverage at this IL-17 adaptor locus

Chromosome 6 Risk Allele A Category Psoriasis & Spondyloarthropathy Tags Immune & Gut, Autoimmune, Inflammation, Psoriasis, Arthritis, Biologic Therapy

When geneticists mapped the TRAF3IP2 psoriasis susceptibility locus on chromosome 6q21, they found not one disease signal but two overlapping risk haplotypes. The two coding variants — D10N (rs33980500) and R74W (rs13190932) — explain much of the risk, but complete haplotype resolution requires four...

rs13324341 Intronic MRAS variant that creates a MEF2 transcription factor binding site in vascular smooth muscle cells, increasing MRAS expression and promoting the pro-atherogenic synthetic phenotype switch linked to coronary artery disease

Chromosome 3 Risk Allele T Category Coronary Artery Disease & Atherosclerosis Tags Cardiovascular, Atherosclerosis, Heart Disease, Inflammation, Biomarkers

Deep inside the walls of your coronary arteries, smooth muscle cells (SMCs) exist in two fundamentally different states. In their quiet, contractile phenotype(https://pmc.ncbi.nlm.nih.gov/articles/PMC3388816/), they hold the arterial wall together. Under stress — lipid exposure, inflammation, mechanical injury —...

rs1360780 Co-chaperone of the glucocorticoid receptor that regulates cortisol feedback — the T allele impairs stress recovery and, combined with early adversity, strongly increases risk of PTSD and depression

Chromosome 6 Risk Allele T Category Mood & Behavior Tags Stress, Cognition, Cortisol, PTSD, Depression, Antidepressants

Your body's stress response is meant to be temporary. When a threat appears, the HPA axis() floods your bloodstream with cortisol(), and when the threat passes, cortisol is supposed to shut itself off through a negative feedback loop. The gene FKBP5 is a critical gatekeeper of that off switch, and the rs1360780...

rs150597413 Nonsense variant eliminating filaggrin protein — a minor European FLG null allele that acts as a compound heterozygote partner to the major European FLG mutations in atopic dermatitis and ichthyosis vulgaris

Chromosome 1 Risk Allele T Category Skin & Eyes Tags Skin Health, Immune & Gut, Inflammation, Food Sensitivity, Asthma, Immune System

Filaggrin is the structural protein that holds the outermost layer of skin together, retains moisture, and keeps allergens out. The FLG gene encodes profilaggrin(https://pubmed.ncbi.nlm.nih.gov/16550169/). S3247X (c.9740CA on the coding strand) introduces a premature stop codon at position 3247 of the protein,...

rs1532085 Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels while elevating triglycerides — with dietary fat type modifying the net cardiometabolic effect

Chromosome 15 Risk Allele A Category Triglycerides & Fatty Acids Tags HDL Cholesterol, Fat Metabolism, Cholesterol, Triglycerides, Cardiovascular, Diet

Your liver's hepatic lipase (HL) enzyme is a key player in the final remodeling of lipoprotein particles. After peripheral tissues strip triglycerides from VLDL using lipoprotein lipase, the remnant particles — along with mature HDL2 — arrive at the liver surface where hepatic lipase hydrolyzes their remaining...

rs1743963 Intronic SGK1 variant associated with depression susceptibility in coronary heart disease patients, linking glucocorticoid-regulated kinase signaling to the cardiovascular-psychiatric comorbidity axis

Chromosome 6 Risk Allele G Category Blood Pressure & Hypertension Tags Cardiovascular, Depression, Stress Response, Blood Pressure, Cortisol, Neuroplasticity

SGK1 (serum/glucocorticoid-regulated kinase 1) sits at a molecular crossroads between the cardiovascular system and the brain. In the kidney, SGK1 switches on the epithelial sodium channel (ENaC)(https://pubmed.ncbi.nlm.nih.gov/16221215/) in response to aldosterone, promoting sodium retention and blood pressure...

rs1799724 TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha transcription independently of the -308 variant; the T allele is associated with Crohn's disease susceptibility in Asian populations, psoriasis, and modified response to anti-TNF biologics

Chromosome 6 Risk Allele T Category TNF, NF-kB & Inflammatory Cytokines Tags Immune & Autoimmune, Inflammation, Anti-TNF Biologics, Crohn's Disease, Psoriasis, Gut Health

The TNF gene on chromosome 6p21.3 encodes tumor necrosis factor-alpha(https://www.ncbi.nlm.nih.gov/gene/7124). The rs1799724 variant sits 857 base pairs upstream of the TNF transcription start site, within the gene's promoter — a regulatory region that controls how much TNF-alpha your immune cells produce. Unlike...

rs1799945 Second most common hereditary hemochromatosis variant, mildly increasing iron absorption and modestly raising iron stores

Chromosome 6 Risk Allele G Category Iron & Mineral Transport Tags Iron, Hemochromatosis, Cardiovascular, Diet, Vitamins, Minerals

The HFE gene produces a protein that acts as an iron gatekeeper. It sits on the surface of cells in the gut and liver, where it binds to transferrin receptor 1() and helps the body sense how much iron is circulating. When iron levels are adequate, HFE triggers production of hepcidin(), the master hormone that puts...

rs1800787 Upstream promoter variant in fibrinogen beta chain that elevates circulating fibrinogen levels and amplifies the acute-phase inflammatory response

Chromosome 4 Risk Allele T Category Coagulation & Clotting Factors Tags Blood Clotting, Cardiovascular, Inflammation, Thrombosis, Atherosclerosis, Thrombophilia

Fibrinogen is not merely a clotting protein. Every gram per litre increase in plasma fibrinogen(https://pubmed.ncbi.nlm.nih.gov/21499712/) raises cardiovascular risk measurably — fibrinogen simultaneously thickens blood, fuels thrombus formation, and serves as a sensitive acute-phase reactant that spikes during...