HLA DQ2/DQ8

Immunology

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Description

Human leukocyte antigens (HLA) are a group of protein expressed on the surface of leukocytes and other nucleated cells. HLA antigens are divided into the types: Class I (A, B, C) and Class II (DR, DP, DQ). The different types of HLA expressed in individuals are determined genetically. HLA DQ2 has a prevalence of approximately 25-30% in the normal population. HLA DQ8 is present in 5-10% of the normal population. This is increased in patients which have Coeliac disease. In the UK, Europe and USA, 90-95% of coeliac patients have HLA DQ2 with the remaining 5-10% being positive for HLA DQ8 [1]. The DQ2 serotype association with coeliac disease is mediated entirely through the DQ2.5 haplotype, the other haplotype found with the DQ2 serotype, DQ2.2, does not appear to predispose to disease [2]. ESPGHAN guidelines for the diagnosis of Coeliac disease promote the use of HLA testing in patient who are asymptomatic but are in high risk groups for developing coeliac disease [3]. NICE guidelines recommend to only consider HLA typing in coeliac disease diagnosis in special circumstances [4]. A positive HLA DQ2/DQ8 result indicates that the individual may be at increased risk of developing Coeliac disease. A negative result does not exclude the patient from having the disease, as people negative for HLA DQ2/DQ8 may also develop these conditions.

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Indications

Suspected cases of Coeliac disease where serological tests are inconclusive. Asymptomatic patients in high risk groups for developing Coeliac disease.

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Sample Type

5mL EDTA whole blood. Requests from outside Sheffield: Transport at ambient temperature via Royal Mail or Courier.

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Reference Range

Results are reported for the following HLA types:HLA DQ2.2HLA DQ2.5HLA DQ8Beta-subunit HLA DQ2.2/DQ2.5Negative = HLA DQ2 and DQ8 genes not presentPositive, heterozygous Positive, homozygous

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Turnaround Time

Within 5 days

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Testing Frequency

Weekly

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References

Wessels MMS, et al. Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families. Eur J Hum Genet. 2015. 23(3):405-408. [Ref 1].Heap G and Van Heel D. Genetics and pathogenesis of Coeliac disease. Seminars in Immunology. 2009. 21:346-354. [Ref 2].Husby S, Koletzko S, Korponay-Szabo IR et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 2012; 54:136-60. [Ref 3].NICE clinical guideline 20 (NG20). Coeliac disease: Recognition, assessment and management. 2015. [Ref 4].

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See Also

Endomysial antibodies, Tissue transglutaminase antibodies

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