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Neuhausen, S.L. et al.

Neuhausen, Weizman, Camp, Elbedour, Sheffield, Zone, Carmi,

HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease.

Celiac disease ( CD) has a strong genetic association with human leukocyte antigens (HLA). The primary susceptibility for CD is HLA-DQA1*05 DQB1*02 (also known as DQ2), with the remainder of cases primarily HLA-DQA1*03 DQB1*03 (also known as DQ8). In a set of nine Bedouin multiplex celiac disease families and one simplex, we genotyped DNA samples at HLA DQA1 and DQB1. Nineteen celiac disease patients had at least one DQA1*05 DQB1*02 genotype (= DQ2), 4 affecteds had the second most common genotype of DQA1*03 DQB1*0302 (= DQ8), 9 were DQ2 and DQ8, and 4 had at least one copy of DQB1*02 without the DQA1*05 genotype. Using transmission disequilibrium testing, we observed a significant over-representation in affecteds of the DQA1*05 DQB1*02 genotype (p = 0.0089), as well as over-representation of the DQA1*03 DQB1*0302 genotype (p = 0.078). The HLA DQA1 DQB1 high-risk genotypes associated with celiac disease are similar in these Bedouin families with CD to what is observed in Northern and Southern Europeans.[1]

References

HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. Neuhausen, S.L., Weizman, Z., Camp, N.J., Elbedour, K., Sheffield, V.C., Zone, J.J., Carmi, R. Hum. Immunol. (2002) [Pubmed]

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