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The purposes of the study were (i) to describe the abundance and epidemiology of Legionellaceae in the man-made environment in a northern Italian area, (ii) to assess the concordance between pulsed-field gel electrophoresis (PFGE) and automated ribotyping (AR) techniques for genotyping L. pneumophila and (iii) to investigate the correlation between serogrouping and genotyping data. Water was sampled from reservoirs in 12 buildings across an area of 80-km radius. Despite the water temperature always being maintained above 55 °C, all of the buildings sampled were contaminated with Legionellaceae on at least one occasion and 63 L. pneumophila isolates representing nine different serogroups were collected. The two DNA methods revealed a high degree of genetic heterogeneity, even though identical L. pneumophila clones were recovered at different sites. The AR technique provided a fairly reliable approximation of PFGE results (73% concordance), however there was poor correlation between serogrouping and genotyping data as identical DNA fingerprints were shared by isolates of different serogroups.

AbstractLeft ventricular hypertrophy (LVH) is a major determinant of heart damage. Scientific evidence suggests the influence of genetic factors, but these have yet to be completely clarified. This study investigates a possible relationship between LVH and two chemokine receptor (CCR) gene polymorphisms: CCR5∆32 and CCR264I. Essential hypertensive out-patients (n=118, grade I–II, age 27–54) were recruited from the Catholic University Hypertension Centre. For each subject, clinical data on office blood pressure and M-mode/2D echocardiography were collected. Statistical analysis did not show a significant association between the CCR polymorphisms and LVH in the study population.

Over the past 20 years, the interest of the scientific community was increasingly placed in the field of genetic epidemiology and molecular genetics of blood pressure control. This paper explores references related to essential hypertension, gene and genetic epidemiology indexed in the MedLine health science database during the period 1980–2001. A systematic literature search was performed using selected keywords, such as 'genetic', 'genome' or a combination of words. We considered the study heading and evaluated the time profile of published articles. A total number of 3116 publications was collected and analyzed. Allelic distribution for the most studied polymorphisms of the renin–angiotensin system in different world populations was reviewed and reported together with a detection of their frequency in Italy: essential hypertensive patients (n = 90), healthy unrelated subjects (n = 300). Molecular variants at angiotensinogen (M and T), angiotensin II type 1 receptor (A and C) and angiotensin-converting enzyme (D and I) genes were analyzed by amplified fragment length polymorphism. A significant association was detected by χ2analysis for angiotensinogen and angiotensin II-type I receptor allele distribution in hypertensive patients, in accordance with previous reports. Genetic data and methods are contributing more and more to epidemiological studies of complex diseases, and their application is influenced by information availability and Genome Project results.

Left ventricular hypertrophy in patients with hypertension is a main clinical prognostic entity. The aim of this study was to evaluate the association between mutations at genes of the renin‐angiotensin system (RAS) and the development of left ventricular hypertrophy. Genetic polymorphism in angiotensinogen (AGT) and angiotensin ll‐type 1 receptor (AT1R) genes was examined in a group of well‐selected essential hypertensive Caucasians with left ventricular involvement (n=40) and a group of healthy unrelated Caucasians (n=150). Cardiac morphology and function were assessed by M‐mode echocardiography. Molecular variants were analysed by amplified fragment length polymorphism. We observed a statistically significant difference both for AGT and AT1R genotype distribution in patients with left ventricular hypertrophy compared with controls (p<0.05). A 0.49 and 0.225 frequency was detected among cases for T and C mutant alleles at AGT and AT1R genes. Mutations in RAS genes are involved in the pathophysiology of target‐organ damage in essential hypertension. Evaluation of molecular factors conferring a risk of developing heart involvement may lead to better identification of patient subgroups and more effective control of the clinical course.

We have ectopically expressed transcription factor ETS1 in two different highly tumorigenic human colon cancer cell lines, DLD-1 and HCT116, that do not express endogenous ETS1 protein and have obtained several independent clones. The expression of wild-type ETS1 protein in these colon cancer cells reverses the transformed phenotype and tumorigenicity in a dose-dependent manner. By contrast, expression in DLD-1 cells of a variant form of ETS1, lacking transcriptional activity, did not alter the tumorigenic properties of the cells, suggesting that the reduction in tumorigenicity in these clones was specific for the wild-type ETS1 gene products. Since these colon cancer cells have multiple genetic alterations, the system described in this paper could be a good model to study the suppression of tumorigenicity at a transcriptional level, which could lead to the design and development of novel drugs for cancer treatment.

AbstractEssential hypertension is a complex trait under polygenic control. Evidences suggests immune system involvement during pathogenesis. CC-chemokine receptor (CCR)5 and CCR2 are characterised by gene polymorphism. Variant alleles are derived from a deletion in the CCR5 gene (CCR5∆32) and a substitution mutation at the CCR2 locus (CCR264I). CCR polymorphic forms have been studied extensively as invasion cofactors for HIV-1, but they have also been implicated in immuno-related disorders. Here, we evaluate the allelic distribution of CCR5 and CCR2 genes in essential hypertension in a case-control study. Genotype frequency in a group of essential hypertensive patients (stage I-II; n=120) and a group of unrelated, healthy Caucasian subjects (n=340) is compared. CCR gene polymorphism is analysed by polymerase chain reaction and restriction enzyme digestion. A statistically significant difference was observed for CCR5 and CCR2 mutant alleles in essential hypertensive patients, compared with the controls (P=0.004 and P=0.003, respectively). CCR5∆32 and CCR264I alleles showed a 0.096 and 0.10 frequency among cases. To date, a role for the immune system in hypertension has not been clarified, nor has the predictive value of CCR polymorphisms.

Genetic polymorphisms of CCR5 and CCR2 human chemokine receptors have been associated with resistance during HIV-1 infection and disease progression. The protective effect of mutant alleles at these loci has important implications in AIDS pathogenesis. Chemokine receptors have a role in viral entry into target cells as well as in immune response modulation. In the present report, we studied the frequency of CCR5Delta32 and CCR264I allelic variants among a representative sample of the Italian population. Observed allelic frequencies were 0.0454 and 0.0655, respectively. In both cases, genotype distribution was in equilibrium as predicted by the Hardy-Weinberg equation. Taken as a whole, about 21% of the population sample was found to be heterozygous for one or another of those two mutated alleles. Distribution of CCR5Delta32 and CCR264I allelic variants within a population can be considered as a measure of genetic susceptibility to HIV infection and disease progression.