1,721,024 research outputs found
NALP1/NLRP1 genetic variants are associated with Alzheimer disease.
No full textAlzheimer disease (AD) is a complex neurodegenerative disease. Genetic and molecular studies have confirmed that in the human brain, amyloid-β fibrils can induce, through the activation of NALP1 inflammosome, inflammatory and apoptotic responses involved in the pathogenesis of AD. Considering that AD pathogenesis is multifactorial, we hypothesized that NALP1/NLRP1 could be a susceptibility gene involved in the devolvement of the disease. The possible association between 9 selected polymorphisms in the NALP1/NLRP1 gene and AD was evaluated by comparing their frequency distribution in an Italian cohort of AD patients (AD, n = 276) and in a group of Italian sex-matched and age-matched healthy controls without dementia (HC, n = 266). Our study, evidences the association of 4 nonsynonymous polymorphisms in the NLRP1 gene (rs2137722, rs34733791, rs11657747, rs11651595) with AD. The major alleles of all 4 single nucleotide polymorphisms and the corresponding homozygote genotypes were more frequent in AD patients than in healthy controls, suggesting an association of these variants in the predisposition versus the development of the disease. These findings seem to support the previously reported role of NALP1 in neuronal damage, and provide evidence of an association between single nucleotide variations in the NLRP1 gene and AD
HLA-G and susceptibility to develop celiac disease
No full textThe 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
Are taste variations associated with the liking of sweetened and unsweetened coffee?
No full textObjective: In this study, we evaluated the influence of taste phenotypes and genotypes on the hedonics of sweetened and unsweetened coffee. Methods: Liking of espresso coffee from food questionnaire and of a ready-to-drink unsweetened coffee beverage was measured using a 9-point hedonic scale in 1551 Italian individuals. Perception and liking for different bitter and sweet compounds were also collected. Genotyping of selected Single Nucleotide Polymorphisms (SNPs) in five taste genes (TAS1R3, GNAT3, TAS2R14, TAS2R19, TAS2R38) was performed. Linear and logistic regression models, including sex and gender as covariates, were used to test the relationship of taste phenotypes and selected SNPs with coffee liking. Results: We found that increased caffeine bitterness perception was associated with an increasing liking for sweetened coffee (p-value = 0.018) and decreased liking of unsweetened coffee (p-value = 0.034). The liking of unsweetened coffee beverage was also negatively associated with sweet intensity perception (p-value = 0.03). Analysis of SNPs in taste-related genes showed that rs6467192 G allele (intron 4 variant) in GNAT3 sweet taste gene was associated with higher liking of sweetened coffee (p-value = 0.002) and lower liking of unsweetened coffee (p-value = 0.01). An association also emerged between unsweetened coffee and SNPs in bitter receptor genes, with rs2597979 in TAS2R14 gene associated with liking of unsweetened coffee (p-value = 0.004) and rs10772420 in TAS2R19 gene associated with liking of both unsweetened espresso coffee and coffee beverage (p-value = 0.04 and p-value = 0.03, respectively). Conclusion: These findings suggested that individual preference for sweetened and unsweetened coffee may be influenced by both phenotypic and nucleotide variations in bitter and sweet taste sensitivity
The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease.
No full textOBJECTIVES:
Celiac disease (CD) is a multifactorial common disorder with several susceptibility loci. Variations in the NALP1/NLRP1 and NALP3/NLRP3 genes have been reported to confer risk for several autoimmune conditions. We hypothesized that polymorphisms in these genes, due to their role in innate immunity and inflammatory processes, may affect susceptibility to CD.
METHODS:
Two single-nucleotide polymorphisms (SNPs) in NLRP1 (rs12150220, rs2670660) and two SNPs (rs10754558, rs35829419) in NLRP3 genes were genotyped in 504 CD Italian patients and 256 healthy controls.
RESULTS:
The minor A allele of NLRP3 rs35829419 (Q705K) polymorphism appeared to exert a protective role against the development of CD (P=0.029; odds ratio (OR)=0.56). Moreover, a particular NLRP1 haplotype was associated with predisposition to CD (P=0.003; OR=1.38), even more when present in combination with the rs35829419 major C allele (P=0.002; OR=1.42).
CONCLUSIONS:
We hypothesized that the deregulation of CIAS1/NALP3/NLRP3 and NALP1/NLRP1 inflammasomes could have a role in CD pathogenesis
Polymorphisms in TREX1 and susceptibility to HIV-1 infection.
No full textTREX-1 is a restriction factor against HIV-1. The coding sequence of TREX1 gene was analysed in HIV+ subjects searching for genetic variations possibly associated with the susceptibility to HIV infection. The single nucleotide polymorphism rs3135945 was significantly associated with HIV infection, emphasizing the involvement of TREX-1 in the anti-HIV response
Interleukin-18 gene promoter polymorphisms and celiac disease in Italian patients.
No full textCeliac 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
Non-classical MHC-I human leukocyte antigen (HLA-G) in hepatotropic viral infections and in hepatocellular carcinoma
No full textThe human leukocyte antigen (HLA)-G is a ‘‘nonclassical’’ major histocompatibility complex (MHC) class
Ib gene, located at chromosome 6, in the 6p21.3 region.
The HLA-G presents immunomodulatory functions essential in pregnancy for the tolerance of the
semi-allogenic fetus, but an abnormal expression of HLA-G has been observed in numerous pathological
conditions, such as tumors, autoimmune diseases and viral infections. In recent years, numerous studies
have assessed the clinical relevance of HLA-G expression in different types of cancer: in general, a higher
HLA-G expression correlates with a lower survival rate or a shorter disease-free survival.
Altered expression of HLA-G has been found in both HCV and HBV infection, and some genetic polymorphisms
have been associated with altered susceptibility/disease development for these infections,
however, whether the biologic role of HLA-G in HCV and HBV infection is beneficial or hazardous, it is
not completely clear. In the context of hepatocellular carcinoma, HLA-G has shown a potential diagnostic
role, moreover a prognostic value in HCC patients has been also attributed to HLA-G molecules.
We revise here the role of HLA-G in hepatotropic HBV/HCV infections and in hepatocellular carcinoma
(HCC)
Interleukin-10 gene promoter polymorphisms in celiac patients from north-eastern Italy
No full textCeliac 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
Investigation of the link between PROP taste perception and vegetables consumption using FAOSTAT data
No full textIn this work we investigated, in populations located in Central Asia, the relationship between PROP taste perception and vegetables liking and consumption using FAOSTAT dataset. Collected data were analysed using distance matrices, Mantel test and Pearson correlation. Populations showing similar ability in tasting PROP bitterness are more similar as respect to vegetable consumption (r = 0.63, p-value = .05). Moreover, a significant negative correlation was found between the percentage of Non Taster (NT) in different countries and the percentage of vegetable consumption (r = -0.87, p-value = .02), while a significant positive correlation emerged between the percentage of Super Taster (ST) and the percentage of vegetable liking (r = 0.87, p-value = .02). In our work we showed that differences in bitter perception among populations contributes to differences in vegetable liking and vegetable consumption. More in detail, populations with higher percentage of ST consume more vegetables than population where the majority of individuals are NT
Association between HLA-G 3'UTR 14-bp polymorphism and HIV vertical transmission in Brazilian children
No full textHLA-G polymorphisms analysis in HIV childre
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