As discussed HLA studies indicate that most celiacs possess the extended haplotype, DR3-DQ2, or, less often, DR5/7-DQ2. Some celiac patients have DR4-DQ8. Virtually all celiacs bear one of these three haplotypes, which has led to the development of new assays for diagnosis and screening. PCR assays to detect a restricted set of HLA antigens (HLA DQ2 and DQ8) are available and can be helpful in defining those at risk of developing celiac disease. Although the prevalence of these HLA haplotypes is approximately 35% of the North American population, essentially celiac disease occurs only in the subset bearing at least one of these two genes. Thus, such testing can be useful in determining who should undergo a gluten challenge and also for screening family members.
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