title: KIR/HLA combination associated with the risk of complications in celiac disease.
abstract: The pathogenesis of celiac disease (CD) is associated with polymorphisms in human leukocyte antigen (HLA) genes; however, compelling evidence suggests that additional non-HLA genes are associated with CD and related complications. The present study investigated whether killer cell immunoglobulin-like receptor (KIR)/HLA gene combinations are associated with CD and its clinical complications in the population of northeast Italy. The study included 61 adults affected by CD: 48 patients were at first diagnosis and 13 patients had CD-related complications (8 with refractory CD and 5 with cancer). Controls were 69 blood donors genotyped for KIR and HLA. Several statistically significant differences emerged between CD patients and blood donors. The results herein presented show that susceptibility to CD with refractory disease or cancer is associated with various genotypes including the 2DS2/2DL2+C1, 2DS3, 3DL1, and 2DL5B genes. In addition, the absence of the Bw4 ligand may be a predisposing factor for cancer. These results suggest that a KIR haplotype and HLA ligands may be involved in the susceptibility to important clinical CD complications such as tumors or refractoriness as a result of a gluten-free diet.
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico, IRCCS, National Cancer Institute, Aviano - Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Caggiari
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Toffoli
authors.forename: Valli
authors.initials: V
authors.lastname: De Re
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Orzes
authors.forename: Michele
authors.initials: M
authors.lastname: Spina
authors.forename: Mariangela
authors.initials: M
authors.lastname: De Zorzi
authors.forename: Stefania
authors.initials: S
authors.lastname: Maiero
authors.forename: Renato
authors.initials: R
authors.lastname: Cannizzaro
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Canzonieri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D054340:Receptors, KIR / Q000235:genetics* / Q000276:immunology; D055815:Young Adult
chemical_list: D006680:HLA Antigens; D054340:Receptors, KIR