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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Celiac Disease / epidemiology*
  • Celiac Disease / genetics*
  • Child
  • Child, Preschool
  • Family*
  • Female
  • Genetic Predisposition to Disease
  • Genotype*
  • HLA-DQ Antigens / genetics*
  • Health Knowledge, Attitudes, Practice
  • Histocompatibility Testing
  • Humans
  • Infant
  • Male
  • Surveys and Questionnaires

Substances

  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DQ8 antigen