@article {7684, title = {Impact of DEFB1 gene regulatory polymorphisms on hBD-1 salivary concentration.}, journal = {Arch Oral Biol}, volume = {60}, year = {2015}, month = {2015 Jul}, pages = {1054-8}, abstract = {

OBJECTIVES: Human β-defensin 1 (hBD-1) is an antimicrobial peptide involved in epithelial defence of various tissues, also present in the saliva. Individual genetic variations within the DEFB1 gene, encoding for hBD-1, could influence gene expression and protein production.

DESIGN: Three DEFB1 polymorphisms at 5{\textquoteright} untranslated region (UTR), -52G > A (rs1799946), -44C > G (rs1800972) and -20G > A (rs11362), and two polymorphisms at DEFB1 3{\textquoteright} UTR, c*5G > A (rs1047031) and c*87A > G (rs1800971), were analysed by direct sequencing and correlated with hDB-1 salivary concentration (tested with enzyme-linked immunosorbent assay (ELISA)) in 40 healthy subjects.

RESULTS: Significant associations were found between individuals presenting different DEFB1 polymorphisms at positions -52 and -44 of the gene and hBD-1 salivary concentrations: -52 G/G carriers had higher levels of protein than G/A and A/A; -44C/G subjects showed a higher protein concentration than homozygous wild-type C/C. For the -20G > A, c*5G > A and c*87A > G polymorphisms, no statistically significant differences were found. Combined haplotype analysis confirmed the results obtained considering the single-nucleotide polymorphisms (SNPs) singularly.

CONCLUSION: Polymorphisms in the DEFB1 gene influence hBD-1 production and, therefore, could modify the innate immune system responses and, consequently, the oral health.

}, issn = {1879-1506}, doi = {10.1016/j.archoralbio.2015.03.009}, author = {Polesello, Vania and Zupin, Luisa and Di Lenarda, Roberto and Biasotto, Matteo and Ottaviani, Giulia and Gobbo, Margherita and Cecco, Luca and Alberi, Giulia and Pozzato, Gabriele and Crovella, Sergio and Segat, Ludovica} } @article {3616, title = {Interleukin-18 gene promoter polymorphisms and celiac disease in Italian patients.}, journal = {Mol Biol Rep}, volume = {42}, year = {2015}, month = {2015 Feb}, pages = {525-33}, abstract = {

Celiac disease (CD) is the most common food-sensitive enteropathy in genetically susceptible individuals. The major genetic risk factors known are specific human leukocyte antigen (HLA)-DQ haplotypes, but other genetic factors are supposed to be involved. Interleukin-18 (IL-18) is a pro-inflammatory cytokine that has an important role in the immune defense and it has the potential to influence inflammatory disorders. IL-18 is able to promote Th1 cell development and it is expressed in the mucosa of the small intestine in celiac patients. Given the IL-18 biological role, and since a few studies have previously suggested its involvement in CD, in order to investigate the role of IL18 gene in the susceptibility to CD we have performed a case-control study, analyzing two IL18 gene promoter polymorphisms, previously reported to impair the transcriptional activity of the gene, (-137G > C and -607C > A, rs187238 and rs1946518 respectively). A total of 556 CD Italian patients and 582 controls, further stratified for HLA class II (DQ) CD risk haplotypes were enrolled. The -607A > C A allele and A/A genotype, as well as the combination of this allele with the -137G allele in the AG haplotype, were associated with an increased risk towards CD development, in particular in HLA-DQ2.2 patients. Although the association was very moderate, our results indicate the possible involvement of IL18 gene in the susceptibility to CD, and for this reason we do think it should deserve further investigation.

}, issn = {1573-4978}, doi = {10.1007/s11033-014-3796-z}, author = {Zupin, Luisa and Catamo, Eulalia and Polesello, Vania and Crovella, Sergio and Segat, Ludovica} } @article {3523, title = {Interleukin-10 gene promoter polymorphisms in celiac patients from north-eastern Italy.}, journal = {Hum Immunol}, volume = {75}, year = {2014}, month = {2014 Jul}, pages = {656-61}, abstract = {

Celiac disease is a complex chronic intestinal disorder driven by an immune response against the gliadin fraction of gluten: many factors are involved in the pathogenesis of the disease, and among these Interleukin-10 could play an important role. In the present study, the -1082A>G, -819T>C and -592A>C IL10 functional polymorphisms were analyzed in 565 celiac patients and 576 healthy controls from north-eastern Italy, stratified for HLA class II celiac disease risk haplotypes. No significant differences were observed for the three IL10 polymorphisms distribution between celiac patients and controls with the exception of a slightly increased risk for the -1082A allele in HLA-DQ8 male individuals. Although our findings suggest that the IL10 genetic variants analyzed do not have a major role in the susceptibility to the development of celiac disease in north-eastern Italian patients, we think that the possible involvement of IL10 gene in CD should deserve further investigation and that large-scale studies are recommended to confirm our findings.

}, keywords = {Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Case-Control Studies, Celiac Disease, Child, Child, Preschool, European Continental Ancestry Group, Female, Gene Frequency, HLA-DQ Antigens, Humans, Interleukin-10, Italy, Male, Middle Aged, Models, Genetic, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Risk Factors, Sex Factors}, issn = {1879-1166}, doi = {10.1016/j.humimm.2014.04.011}, author = {Zupin, Luisa and Polesello, Vania and Catamo, Eulalia and Crovella, Sergio and Segat, Ludovica} }