Search results for " genotypes"
showing 10 items of 35 documents
Genomic and Metabolomic Profile Associated to Clustering of Cardio-Metabolic Risk Factors
2016
Background To identify metabolomic and genomic markers associated with the presence of clustering of cardiometabolic risk factors (CMRFs) from a general population. Methods and Findings One thousand five hundred and two subjects, Caucasian, > 18 years, representative of the general population, were included. Blood pressure measurement, anthropometric parameters and metabolic markers were measured. Subjects were grouped according the number of CMRFs (Group 1: <2; Group 2: 2; Group 3: 3 or more CMRFs). Using SNPlex, 1251 SNPs potentially associated to clustering of three or more CMRFs were analyzed. Serum metabolomic profile was assessed by 1H NMR spectra using a Brucker Advance DRX 600 spect…
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations
2019
IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…
Apoe genotypes and brain imaging classes in normal cognition, mild cognitive impairment, and alzheimer’s disease: A longitudinal study
2020
Objective: To evaluate in 419 stroke-free cognitively normal subjects (CN) aged 45-82 years covering during a long prospective study (11.54 ± 1.47 years) the preclinical to dementia spectrum: 1) the distribution of small vessel disease (V) and brain atrophy (A) aggregated as following: V−/A−, V−/A+, V+/A−, V+/A+; 2) the relationship of these imaging classes with individual apolipoprotein E (APOE) genotypes; 3) the risk of progression to Alzheimer Disease (AD) of the individual APOE genotypes. Methods: Participants underwent one baseline (t0), and 4 clinical and neuropsychological assessments (t1,t2,t3, and t4). Brain MRI was performed in all subjects at t0, t2, t3 and t4.. White matter hyp…
Clinical features and comorbidity pattern of HCV infected migrants compared to native patients in care in Italy: A real-life evaluation of the PITER …
2021
Background: Direct-acting antivirals are highly effective for the treatment of hepatitis C virus (HCV) infection, regardless race/ethnicity. We aimed to evaluate demographic, virological and clinical data of HCV-infected migrants vs. natives consecutively enrolled in the PITER cohort. Methods: Migrants were defined by country of birth and nationality that was different from Italy. Mann-Whitney U test, Chi-squared test and multiple logistic regression were used. Results: Of 10,669 enrolled patients, 301 (2.8%) were migrants: median age 47 vs. 62 years, (p < 0.001), females 56.5% vs. 45.3%, (p < 0.001), HBsAg positivity 3.8% vs. 1.4%, (p < 0.05). Genotype 1b was prevalent in both gro…
Muscle-Related Polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) Are Not Associated with Exceptional Longevity in Japanese Centenarians
2016
Myostatin (MSTN) and α-actinin-3 (ACTN3) genes are potentially associated with preservation of muscle mass and oxidative capacity, respectively. To explore the possible role of these genes in exceptional longevity (EL), the allele/genotype frequency distribution of two polymorphisms in MSTN (rs1805086, K153R) and ACTN3 (rs1815739, R577X) was studied in Japanese centenarians of both sexes (n = 742) and healthy controls (n = 814). The rs1805086 R-allele (theoretically associated with muscle mass preservation at the expense of oxidative capacity) was virtually absent in the two groups, where genotype distributions were virtually identical. Likewise, no differences in allele (p = 0.838 (women);…
A 3-week feed restriction after weaning as an alternative to a medicated diet: effects on growth, health, carcass and meat traits of rabbits of two g…
2017
Feed restriction after weaning is widely used in meat rabbit farms to promote health and reduce mortality, but this practice impacts negatively on rabbit growth and slaughter performance. This study compared a 3-week post-weaning feed restriction with ad libitum medicated feeding, evaluating effects on feed intake, growth, health, carcass and meat quality of rabbits of two genotypes: Italian White pure breed and Hycole hybrid×Italian White crossbred. A total of 512 rabbits at 36 days of age, of both sexes and two genotypes, were divided into four homogeneous groups assigned, from 36 to 57 days of age, to different feeding programmes (FP): restricted non-medicated (R-N), ad libitum non-medic…
Phylogenetic Analysis of isolates from new cases of HBV infection in Southern Italy.
2012
The level of endemicity of hepatitis B virus (HBV) infections in Italy is low and genotype D infections predominant. New HBV strains may however be introduced as a result of movements of people from regions of high endemicity. The aim of the present study was to determine whether strains from new cases of acute hepatitis B detected in southern Italy were due to endemic or new HBV strains. We studied 34 isolates from patients with acute hepatitis B infection, and 35 from chronic hepatitis B patients. A phylogenetic analysis of preS/S region was done by comparing the sequences from the acute and chronic cases with references sequences. The study showed that 44% of strain from acute hepatitis …
Impact of Vaccination on Rotavirus Genotype Diversity: A Nearly Two-Decade-Long Epidemiological Study before and after Rotavirus Vaccine Introduction…
2022
Sicily was the first Italian region to introduce rotavirus (RV) vaccination with the monovalent G1P[8] vaccine Rotarix® in May 2012. In this study, the seasonal distribution and molecular characterization of RV strains detected over 19 years were compared to understand the effect of Rotarix® on the evolutionary dynamics of human RVs. A total of 7846 stool samples collected from children < 5 years of age, hospitalized with acute gastroenteritis, were tested for RV detection and genotyping. Since 2013, vaccine coverage has progressively increased, while the RV prevalence decreased from 36.1% to 13.3% with a loss of seasonality. The local distribution of RV genotypes changed over th…
Effects of αs1-casein and k- casein genotypes on nutrient intake and milk production in Girgentana goats: a further investigation
2013
The influence of polymorphism at αs1-casein locus (CSN1S1) on goat milk properties is adequately known, whereas the knowl- edge is limited on the effects of κ-casein gene variants (CSN3), C-093 and the association between variants of CSN1S1 and CSN3 Milking technique in jenny: effects on milk production genes. This study aimed to investigate the effect of some CSN1S1-CSN3 composite genotypes (CG) on feed intake and milk production of 95 Girgentana goats from 6 experiments (551 Rossella Di Palo, Diana Neri, Barbara Ariota, Rosanna Serafini, observations). Goats, genotyped using specific PCR protocols at DNA level and IEF technique at milk protein level, were equal at αs2-casein and β-casein …
Feed intake, milk composition and cheesemaking properties in Girgentana grazing goats with different genotype at αs1-casein and K-casein
2009
Milk ability for cheese manufacturing depends on both animals utilization of dietary nutrients and genetic polymorphism of caseins. It is well known that strong alleles associated with high content of as1-casein increase cheese-making properties of goat milk, whereas there is little information about effect of genetic variants of κ-casein. The aim of this experiment was to investigate the effect of some composite as1-casein and κ-casein genotypes n changing feeding behavior at pasture and milk yield and properties of Girgentana goats. Forty goats were genotyped at as1, as2, b and κ-casein loci using specific PCR protocols at DNA level and IEF technique at milk protein level. Twelve goats, d…