title: Human leukocyte antigen typing using buccal swabs as accurate and non-invasive substitute for venipuncture in children at risk for celiac disease.
abstract: OBJECTIVE
  Human leukocyte antigen (HLA) typing is an important step in the diagnostic algorithm for celiac disease (CD) and is also used for screening purposes. Collection of blood is invasive and accompanied with emotional impact especially in children. Genetic technological progress now enables HLA typing from buccal cell samples. This study evaluated the reliability and feasibility of HLA typing for CD-associated HLA polymorphisms using buccal swabs as routine test in high-risk individuals.
  
  
  METHODS
  Blood and buccal swabs of 77 children and adolescents with high risk for CD were prospectively collected in this cohort study. Buccal swab collection was performed either by the investigator at the outpatient clinic or by the patient or its parents at home. To evaluate the possibility of self-administration, three families performed the test at home. DNA was extracted using an adapted QIAamp method. Quantity, quality, and purity of DNA were recorded. HLA-DRB1, HLA-DQA1, and HLA-DQB1 typing was examined on buccal cell-derived and blood-derived DNA at low and, if necessary, high resolution level, using sequence-specific oligonucleotide and sequence-based typing, respectively.
  
  
  RESULTS
  DNA isolation using buccal swabs yielded a good quality and sufficient quantity of DNA to perform HLA-DQ typing in all individuals. HLA typing results on buccal cell-derived DNA were identical to typing on blood-derived DNA, also for the self-administered samples.
  
  
  CONCLUSIONS
  Introduction of the buccal swab test for HLA typing of CD risk in routine diagnostics can omit the current venipuncture and enables self-administration at home. Therefore, the buccal swab test is beneficial for individuals with a clinical suspicion for CD, as well as for screening purposes in high-risk populations.
authors.affiliation: Department of Pediatrics & Nutrition and Toxicology Research Institute Maastricht (NUTRIM), Maastricht University Medical Center, Heerlen, the Netherlands. marlou.adriaanse@maastrichtuniversity.nl.
authors.forename: Marlou P M
authors.initials: MP
authors.lastname: Adriaanse
authors.affiliation: Department of Pediatrics & Nutrition and Toxicology Research Institute Maastricht (NUTRIM), Maastricht University Medical Center, Heerlen, the Netherlands.
authors.forename: Anita C E
authors.initials: AC
authors.lastname: Vreugdenhil
authors.affiliation: Department of Transplantation Immunology and Tissue Typing, Maastricht University Medical Centre, Heerlen, the Netherlands.
authors.forename: Véronique
authors.initials: V
authors.lastname: Vastmans
authors.affiliation: Department of Transplantation Immunology and Tissue Typing, Maastricht University Medical Centre, Heerlen, the Netherlands.
authors.forename: Lisette
authors.initials: L
authors.lastname: Groeneveld
authors.affiliation: Department of Transplantation Immunology and Tissue Typing, Maastricht University Medical Centre, Heerlen, the Netherlands.
authors.forename: Stefan
authors.initials: S
authors.lastname: Molenbroeck
authors.affiliation: Department of Pediatrics, Atrium Medical Center Parkstad, Heerlen, the Netherlands.
authors.forename: Dina A
authors.initials: DA
authors.lastname: Schott
authors.affiliation: Department of Transplantation Immunology and Tissue Typing, Maastricht University Medical Centre, Heerlen, the Netherlands.
authors.forename: Christina E M
authors.initials: CE
authors.lastname: Voorter
authors.affiliation: Department of Transplantation Immunology and Tissue Typing, Maastricht University Medical Centre, Heerlen, the Netherlands.
authors.forename: Marcel G J
authors.initials: MG
authors.lastname: Tilanus
mesh_terms: D000293:Adolescent; D002446:Celiac Disease / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005240:Feasibility Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006650:Histocompatibility Testing / Q000379:methods*; D018575:Home Care Services, Hospital-Based; D006801:Humans; D007223:Infant; D008297:Male; D009061:Mouth Mucosa / Q000166:cytology*; D018962:Phlebotomy; D011110:Polymorphism, Genetic; D012648:Self Care / Q000379:methods; D013048:Specimen Handling / Q000379:methods*
chemical_list: D000949:Histocompatibility Antigens Class II
keywords: HLA-DQ alpha-chains; HLA-DQ beta-chains; HLA-DRB1 chains; buccal swab; diagnostic accuracy; non-invasive