title: Search for coeliac disease susceptibility loci on 7q11.23 candidate region: absence of association with the ELN17 microsatellite marker.
abstract: The involvement of HLA genes in the susceptibility to coeliac disease (CD) has been well documented and represents the only consistently observed genetic feature of this multifactorial disease. In the present study, the search for new susceptibility genes has been devoted to a candidate region suggested by the association of CD with Williams syndrome (WS). This genetic disorder is due to a deletion in the 7q11.23 region that includes the elastin (ELN) gene. An increased prevalence of CD in WS patients has been previously reported and a case of CD-WS is also described in the present study. We used the ELN17 microsatellite marker mapped within the ELN gene to look for a possible contribution of this region to the susceptibility to CD. The analysis of 74 Italian CD families provided no evidence of association with the ELN17 marker.
authors.affiliation: Department of Experimental Medicine, University of Rome La Sapienza, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Grillo
authors.forename: F
authors.initials: F
authors.lastname: Petronzelli
authors.forename: B
authors.initials: B
authors.lastname: Mora
authors.forename: M
authors.initials: M
authors.lastname: Bonamico
authors.forename: M C
authors.initials: MC
authors.lastname: Mazzilli
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D015343:DNA Probes, HLA; D004549:Elastin / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D009010:Monte Carlo Method; D010375:Pedigree; D018980:Williams Syndrome / Q000235:genetics
chemical_list: D015343:DNA Probes, HLA; D004549:Elastin