High-risk genotypes are the HLA-DQA1 and HLA-DQB1 genes. The presence of HLA haplotype DR3-DQ2 or DR4-DQ8 is associated with an increased risk of celiac disease.There are gender, country of origin, and age at onset differences in genotypes.
Megiorni F, Mora B, Bonamico M, et al. (2008) HLA-DQ and susceptibility to celiac disease: evidence for gender differences and parent-of-origin effects. Am J Gastroenterol 103(4): 997-1003.
Fernandez-Cavada-Pollo MJ, Alcala-Pena MI, Vargas-Perez ML, et al. (2013) Celiac disease and HLA-DQ genotype: diagnosis of different genetic risk profiles related to the age in Badajoz, southwestern Spain. Rev Esp Enferm Dig 105(8): 469-476.
Romanos J, van Diemen CC, Nolte IM, et al. (2009) Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease. Gastroenterology 137(3): 834-840, 840 e831-833.
Ahn R, Ding YC, Murray J, et al. (2012) Association analysis of the extended MHC region in celiac disease implicates multiple independent susceptibility loci. PLoS One 7(5): e36926.
Liu E, Lee HS, Aronsson CA, et al. (2014) Risk of pediatric celiac disease according to HLA haplotype and country. N Engl J Med 371(1): 42-49.
Olivares M, Neef A, Castillejo G, et al. (2015) The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease. Gut 64(3): 406-417.
Greco L, Romino R, Coto I, et al. (2002) The first large population based twin study of coeliac disease. Gut 50(5): 624-628.
The most common genotype for celiac disease is HLA-DQ2 (+) in around 90% of cases, followed at a long distance by the HLA-DQ8 (+) in around 5% of cases. The rest my be DQ2 and DQ8 negative.
As stated by Emeritus Prof Luis Rodrigo, HLA DQ2 and DQ8 are the most common genotypes.
Celiac disease is a systemic multifactorial disorder resulting from the interaction of genes (e.g. HLA-DQA1 and HLA-DQB1 ), gliadin, and other environmental and/or host factors (e.g. intestinal microbiota)
Genetic Risk is correlated to HLA-DQ2 and/or DQ8 Genotype (From Megiorni et al [2009] for all genotypes included, except DQ8+DQ8: From Pietzak et al [2009])
DQ2+DQ8 Risk = 1:7 (14.3%)
DQ2+DQ2 OR DQ2 Homozygous DQB1*02 = 1:10 (10%)
DQ8+DQ8 2 = 1:12 (8.4%) 2
DQ8+DQB1*02 = 1:24 (4.2%)
Homozygous DQB1*02 = 1:26 (3.8%)
DQ2 alone = 1:35 (2.9%)
DQ8 alone = 1:89 (1.1%)
General Population risk = 1:100 (1%)
½ DQ2: DQB1*02 = 1:210 (0.5%)
½ DQ2: DQA1*05 = 1:1842 (0.05%)
No HLA-DQA/DQB celiac susceptibility alleles = 1:2518 (