Advances in understanding and managing celiac disease: Pathophysiology and treatment strategies

Table 1 Information of human leukocyte antigen genes related with celiac disease

HLA gene name	Encoding alleles	Chromosome location	Association with celiac disease
HLA-DQ2.5[78]	DQA1*05, DQB1*02	6p21.3	Strongly associated with celiac disease; present in 90%-95% of patients
HLA-DQ8[79]	DQA1*03, DQB1*03: 02	6p21.3	Associated with celiac disease; present in 5%-10% of patients
HLA-DQ7[80]	DQA1*05, DQB1*03: 01	6p21.3	Possibly associated with celiac disease; lower risk, often requires combination with other high-risk genes
HLA-DR3[81]	DRB1*03	6p21.3	Typically coexists with HLA-DQ2.5, indirectly increases celiac disease risk
HLA-DR4[82]	DRB1*04	6p21.3	Risk with celiac disease is low, but in some cases may lead to the disease

HLA: Human leukocyte antigen.

Table 2 Key single nucleotide polymorphisms associated with celiac disease

Single nucleotide polymorphism	Gene	Location	Variation(s)	Association with celiac disease
rs2187668[83]	HLA-DQA1	chr6: 32638107	C>T	Strongly associated with celiac disease; often used as a marker for the HLA-DQ2.5 haplotype
rs7775228[84]	HLA-DQB1	chr6: 32690302	T>A, T>C	Associated with the HLA-DQ8 haplotype, another strong genetic risk factor for celiac disease
rs3135388[85]	HLA-DRB1	chr6: 32445274	A>C, A>G, A>T	Linked to the HLA-DR3 haplotype, which may indirectly increase celiac disease risk when co-inherited with DQ2.5
rs13015714[86]	IL18R1	chr2: 102355405	G>A, G>T	Associated with increased risk of celiac disease and severe symptoms due to its role in immune response regulation
rs1738074[87]	TAGAP	chr6: 159044945	T>C	Linked to immune function and associated with increased susceptibility to celiac disease
rs3087243[88]	CTLA4	chr2: 203874196	G>A, G>T	Rare variant associated with autoimmune conditions; may exacerbate celiac disease symptoms when present
rs3184504[85]	SH2B3	chr12: 111446804	T>A, T>C, T>G	Involved in immune response, linked to increased risk of autoimmune diseases, including celiac disease
rs13031237[89]	REL	chr2: 60908994	G>T	Associated with celiac disease and other autoimmune disorders, may affect the severity of the disease

HLA: Human leukocyte antigen.