title: HLA-G and susceptibility to develop celiac disease.
abstract: The Human Leukocyte Antigen-G has immunomodulatory function and its expression has been associated with several diseases. In our study we analyzed HLA-G polymorphisms in order to evaluate their possible association with susceptibility to celiac disease development. A total of 420 celiac patients and 509 controls were genotyped for HLA-G polymorphisms. We sequenced 800bp upstream the ATG codon (5' upstream regulatory region) and the whole 3' untranslated region of the HLA-G gene, whereas the ΔC deletion at exon 3 was detected by RFLP-PCR. Five polymorphisms (namely -477 C>G, -369 C>A, 14bp del/ins, 3187 A>G, 3196 C>G) and one haplotype (TCGGTACGAAITCCCGAG) were significantly more frequent in celiac patients than controls and associated with increased disease susceptibility. The 14bp I/I, 3187 G/G, 3196 G/G genotypes and TCGGTACGAAITCCCGAG haplotype, were still significantly associated with increased disease susceptibility (and in addition also the 3003 C/C genotype) when the analysis was restricted to patients and controls presenting the DQ2.5 or DQ8 HLA-DQ celiac disease risk haplotypes. Our findings indicate an association between HLA-G gene polymorphisms and susceptibility to celiac disease development, suggesting that HLA-G molecule is possibly involved in the pathogenesis of the disease.
authors.affiliation: University of Trieste, 34127 Trieste, Italy. Electronic address: eulalia.catamo@gmail.com.
authors.forename: Eulalia
authors.initials: E
authors.lastname: Catamo
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Zupin
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.affiliation: Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
authors.forename: Fulvio
authors.initials: F
authors.lastname: Celsi
authors.affiliation: University of Trieste, 34127 Trieste, Italy; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D002648:Child; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics / Q000276:immunology; D059951:HLA-G Antigens / Q000235:genetics* / Q000276:immunology; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012189:Retrospective Studies
chemical_list: D006683:HLA-DQ Antigens; D059951:HLA-G Antigens
keywords: Celiac disease; Human Leukocyte Antigen (HLA)-G; Inflammation; mRNA stability