Editorial
Copyright ©The Author(s) 2024.
World J Gastroenterol. Sep 21, 2024; 30(35): 3932-3941
Published online Sep 21, 2024. doi: 10.3748/wjg.v30.i35.3932
Table 2 Key single nucleotide polymorphisms associated with celiac disease
Single nucleotide polymorphism
Gene
Location
Variation(s)
Association with celiac disease
rs2187668[83]HLA-DQA1chr6: 32638107C>TStrongly associated with celiac disease; often used as a marker for the HLA-DQ2.5 haplotype
rs7775228[84]HLA-DQB1chr6: 32690302T>A, T>CAssociated with the HLA-DQ8 haplotype, another strong genetic risk factor for celiac disease
rs3135388[85]HLA-DRB1chr6: 32445274A>C, A>G, A>TLinked to the HLA-DR3 haplotype, which may indirectly increase celiac disease risk when co-inherited with DQ2.5
rs13015714[86]IL18R1chr2: 102355405G>A, G>TAssociated with increased risk of celiac disease and severe symptoms due to its role in immune response regulation
rs1738074[87]TAGAPchr6: 159044945T>CLinked to immune function and associated with increased susceptibility to celiac disease
rs3087243[88]CTLA4chr2: 203874196G>A, G>TRare variant associated with autoimmune conditions; may exacerbate celiac disease symptoms when present
rs3184504[85]SH2B3chr12: 111446804T>A, T>C, T>GInvolved in immune response, linked to increased risk of autoimmune diseases, including celiac disease
rs13031237[89]RELchr2: 60908994G>TAssociated with celiac disease and other autoimmune disorders, may affect the severity of the disease