title: HLA related genetic risk for coeliac disease.
abstract: BACKGROUND
  Several studies have shown an elevated prevalence of coeliac disease (CD) in sibs of coeliac patients (risk 8-12%).
  
  
  OBJECTIVE
  We evaluated the risk that sibs of children with CD will also develop CD. This cohort of 188 Italian families was composed of probands with CD, at least one sib and both parents. CD status was determined and human leucocyte antigen (HLA)-DQ genotyping performed in all family members. The study also used a dataset of Italian triads (127 probands and both their parents) also genotyped for HLA-DQ.
  
  
  RESULTS
  The overall risk that a sib of a CD patient will develop the disease was estimated at 10% in this sample. The risk estimate ranged from 0.1% to 29% when HLA-DQ information of the proband, parents and sib was considered. We found a negligible risk (lower than 1%) for 40% of the sibs of probands, a risk greater than 1% but less than 10% for 30%, and finally a high or very high risk (above 25%) in one-third of families.
  
  
  CONCLUSIONS
  These results make it possible to provide more accurate information to parents with a child with CD about the real risk for another child. An antenatal estimate of the order of risk of CD is now possible. Specific follow-up can thus be offered for babies at high risk.
authors.affiliation: INSERM U535, Université Paris XI, Villejuif, France.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Bourgey
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calcagno
authors.forename: Nadia
authors.initials: N
authors.lastname: Tinto
authors.forename: Daniela
authors.initials: D
authors.lastname: Gennarelli
authors.forename: Patricia
authors.initials: P
authors.lastname: Margaritte-Jeannin
authors.forename: Luigi
authors.initials: L
authors.lastname: Greco
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Limongelli
authors.forename: Oscar
authors.initials: O
authors.lastname: Esposito
authors.forename: Caterina
authors.initials: C
authors.lastname: Marano
authors.forename: Riccardo
authors.initials: R
authors.lastname: Troncone
authors.forename: Antonella
authors.initials: A
authors.lastname: Spampanato
authors.forename: Françoise
authors.initials: F
authors.lastname: Clerget-Darpoux
authors.forename: Lucia
authors.initials: L
authors.lastname: Sacchetti
mesh_terms: D002446:Celiac Disease / Q000235:genetics*; D015331:Cohort Studies; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010290:Parents; D018570:Risk Assessment / Q000379:methods; D035781:Siblings
chemical_list: D006683:HLA-DQ Antigens