title: Genetics and celiac disease: the importance of screening.
abstract: The prevalence of celiac disease (CD) is increasing. Despite an increased awareness and an improvement in diagnostic testing, the majority of individuals with CD remain undiagnosed. Currently, genetic testing in screening for CD is used only to exclude a diagnosis or reinforce a strong clinical suspicion. In this paper, we review the most current literature regarding genetic testing in CD. In response to important data revealing that an individual's HLA haplotype is one of the strongest known predictors of CD, we propose genetic screening for at-risk infants to stratify individuals based on genetic risk to ultimately create genetic specific screening algorithms.
authors.affiliation: Center for Celiac Research, Mucosal Immunology and Biology Research Center, Massachusetts General Hospital and Division of Pediatric Gastroenterology and Nutrition, Massachusetts General Hospital for Children, 165 Cambridge St, Boston MA 02111, USA.
authors.forename: Maureen M
authors.initials: MM
authors.lastname: Leonard
authors.forename: Gloria
authors.initials: G
authors.lastname: Serena
authors.forename: Craig
authors.initials: C
authors.lastname: Sturgeon
authors.forename: Alessio
authors.initials: A
authors.lastname: Fasano
mesh_terms: D000465:Algorithms; D002446:Celiac Disease / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans
chemical_list: D006680:HLA Antigens
keywords: HLA; celiac disease; genetic risk; screening