Immune & Gut

Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac disease and associated with multiple autoimmune conditions

Tag SNP identifying HLA-DQ8 haplotype, second strongest genetic risk factor for celiac disease and major type 1 diabetes risk marker

Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recognition and dampening inflammatory responses

Promoter variant affecting IL-10 production — the master anti-inflammatory cytokine that regulates immune response

Promoter variant increasing TNF-alpha production 2-3 fold, associated with autoimmune diseases and anti-TNF drug response

Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation and autoimmune disease susceptibility

The strongest non-HLA autoimmune risk allele, affecting T-cell and B-cell signaling threshold

Intronic variant creating alternative splice site that increases type I interferon production and autoimmune disease risk

Missense variant in the NOD2 gene that increases Crohn's disease risk, particularly ileal disease, by impairing bacterial peptidoglycan recognition

NOD2 bacterial sensor variant that increases Crohn's disease risk by impairing immune response to gut bacteria

Autophagy gene variant affecting bacterial clearance in gut epithelial cells, strongly associated with Crohn's disease risk

Strongly protective variant against inflammatory bowel disease and other autoimmune conditions through impaired IL-23 signaling

Zinc and manganese transporter variant that reduces metal ion absorption, affecting gut barrier function and microbiome composition

Mucin-1 gene variant affecting gastric mucus barrier function and H. pylori colonization resistance

Common intron 2 variant in the telomerase gene that influences telomere length, with the C allele associated with longer telomeres and increased cancer risk, while the A allele links to shorter telomeres and higher risk of degenerative diseases

Regulatory variant near the telomerase RNA gene associated with shorter telomeres and accelerated cellular aging

Autophagy regulator affecting bacterial clearance in the gut and Crohn's disease susceptibility

Macrophage-stimulating protein variant affecting innate immune response and IBD susceptibility