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. 2015 Mar;23(3):405-8.
doi: 10.1038/ejhg.2014.113. Epub 2014 Jun 11.

Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families

Margreet M S Wessels  1 , Sabine L Vriezinga  1 , Sybille Koletzko  2 , Katharina Werkstetter  2 , Gemma Castillejo-De Villasante  3 , Raanan Shamir  4 , Corina Hartman  4 , Hein Putter  5 , Sylvia M van der Pal  6 , Cisca Wijmenga  7 , Enzo Bravi  8 , M Luisa Mearin  1 ; PreventCD Study Group
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Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families

Margreet M S Wessels et al. Eur J Hum Genet. 2015 Mar.

Abstract

Due to the association of coeliac disease and HLA-specificities DQ2 and DQ8, HLA-typing can be used for risk determination of the disease. This study was designed to evaluate the knowledge of parents from coeliac families regarding HLA-typing and the impact of HLA-typing on the perception of the health of their children. A structured questionnaire was sent to the Dutch, Spanish and German parents participating with their child in the European PreventCD study on disease prevention in high-risk families, addressing parents' understanding of and attitude towards HLA-typing, distress related to HLA-typing and perceived health and health-related quality of life of their children. Sixty-eight percent of parents of 515 children returned the questionnaires, with 85% of children being DQ2/DQ8 positive. The majority of all parents answered the questions on knowledge correctly. Forty-eight percent of parents of DQ2/DQ8-negative children thought their child could develop coeliac disease. More distress was reported by parents of DQ2/DQ8-positive children (P<0.001). All parents showed few regrets and would repeat HLA-typing in future children. Perceived health and health-related quality of life were similar. In conclusion, we can say that misinterpretation of DQ2/DQ8-negative results by parents is frequent. DQ2/DQ8-positive results do not affect perceived health and health-related quality of life of children but may cause temporary negative feelings among parents. Parents of coeliac families seem to support HLA-typing.

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Figures

Figure 1
Figure 1
Parental assessment of risk of developing coeliac disease in their child according to HLA-typing results.
See this image and copyright information in PMC

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