@article {10796, title = {Human beta defensin-1 is involved in the susceptibility to adeno-tonsillar hypertrophy.}, journal = {Int J Pediatr Otorhinolaryngol}, volume = {107}, year = {2018}, month = {2018 Apr}, pages = {135-139}, abstract = {

INTRODUCTION: Innate immunity molecules are known to play a pivotal role in the homeostasis of the oral mucosa, permitting the presence of commensal microflora and, at the same time, providing a first line of defense against pathogens attempting to invade the oral cavity. Tonsils represent the local immune tissue in oral cavity, being able to provide a non-specific response to pathogens; however, in the presence of microbes or foreign materials present in the mouth tonsils could became infected and develop chronic inflammation, thus leading to hypertrophy. The etiology of the disease is multifactorial depending upon environmental and host factors, the latter including molecules of mucosal innate immunity.

METHODS: Ninety-five children with adeno-tonsillar hypertrophy subjected to adeno-tonsillectomy were recruited at the pediatric otorhinolaryngology service of the Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste (Italy). The specimen discarded from the surgery were used for genomic DNA extraction and genotyping, for mRNA extraction and gene expression analysis, finally the samples were cut and used to prepare slides to perform immunohistochemistry.

RESULTS: Functional polymorphisms within DEFB1 gene, encoding the human beta defensin-1 (hBD-1), were analyzed finding association between DEFB1 rare haplotypes and susceptibility to adeno-tonsillar hypertrophy. DEFB1 mRNA expression was detected in the tonsils and the hBD-1 protein was localized at the epithelia of tonsils mainly in the proximity of the basal lamina.

CONCLUSION: Our findings lead us to hypothesize an involvement of hBD-1 mediated innate immunity in the modulation of the susceptibility towards adeno-tonsillar hypertrophy development.

}, keywords = {Adenoidectomy, Adenoids, Adolescent, beta-Defensins, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Hypertrophy, Immunity, Innate, Immunohistochemistry, Italy, Male, Palatine Tonsil, Tonsillectomy}, issn = {1872-8464}, doi = {10.1016/j.ijporl.2018.01.041}, author = {Zupin, Luisa and Celsi, Fulvio and Bresciani, Martina and Orzan, Eva and Grasso, Domenico Leonardo and Crovella, Sergio} } @article {3626, title = {HLA-G and susceptibility to develop celiac disease.}, journal = {Hum Immunol}, volume = {76}, year = {2015}, month = {2015 Jan}, pages = {36-41}, 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{\textquoteright} upstream regulatory region) and the whole 3{\textquoteright} 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.

}, keywords = {Adolescent, Adult, Alleles, Case-Control Studies, Celiac Disease, Child, Female, Gene Frequency, Genetic Predisposition to Disease, Haplotypes, HLA-DQ Antigens, HLA-G Antigens, Humans, Male, Middle Aged, Polymorphism, Genetic, Retrospective Studies}, issn = {1879-1166}, doi = {10.1016/j.humimm.2014.12.006}, author = {Catamo, Eulalia and Zupin, Luisa and Segat, Ludovica and Celsi, Fulvio and Crovella, Sergio} }