Search results for " polymorphism"
showing 10 items of 1028 documents
Effect of interleukin-6 polymorphisms on human longevity: a systematic review and meta-analysis.
2008
Udgivelsesdato: 2009-Jan Several studies have assessed changes in frequency of -174 interleukin (IL)-6 single nucleotide polymorphism (SNP) with age. If IL-6 tracks with disability and age-related diseases, then there should be reduction, in the oldest old, of the frequency of homozygous GG subjects, who produce higher IL-6 levels. However, discordant results have been obtained. To explore the relationship between this polymorphism and longevity, we analyzed individual data on long-living subjects and controls from eight case-control studies conducted in Europeans, using meta-analysis. There was no significant difference in the IL-6 genotype between the oldest old and controls (Odds Ratio […
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness…
2011
Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions a…
Chromosome studies in North-Western Sicily males of Rhynchophorus ferrugineus
2016
Rhynchophorus ferrugineus (Olivier), known as red palm weevil (RPW) was accidentally introduced and established in Sicily (Italy) since 2005. As like in other Mediterranean sites, RPW has been causing extensive damage to palm trees and on its new host Phoenix canariensis Chabaud (Canary Island palms), acquired concomitantly with the colonization of the area. RPW shows a good ecological plasticity and slightly but significant morphological polymorphism (colour patterns and length of the rostrum in male individuals) that can be appreciated within different geographical populations. The aim of the present work was to investigate if this ecological plasticity and phenotypic variability can be a…
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published St…
2017
Objectives: We investigated whether catechol-O-methyltransferase (COMT) Val158Met polymorphism is associated with eating disorders (EDs). Methods: We conducted a systematic literature search of studies published until 15 January 2017 and added data from the Italian ‘Biobanca Veneta per i Disturbi Alimentari’ biobank, performing a meta-analysis comparing COMT Val158Met genotype and allele frequencies in EDs and anorexia nervosa (AN) or bulimia nervosa (BN) patients versus controls. Results: Ten studies plus Biobanca Veneta per i Disturbi Alimentari (ED: n = 920, controls: n = 261 controls) with 3541 ED patients (AN = 2388; BN = 233) and 3684 controls were included. There were no significant …
Focus on the unique mechanisms involved in thoracic aortic aneurysm formation in bicuspid aortic valve versus tricuspid aortic valve patients: clinic…
2013
OBJECTIVES: The involvement of different factors in the onset of thoracic aortic aneurysm (TAA) in patients with a bicuspid aortic valve (BAV) vs those with a tricuspid aortic valve (TAV) is well recognized. However, the molecular, genetic and cellular mechanisms driving TAA remain unclear. The aim of this study was to identify the different mechanisms involved in TAA development in patients with BAV vs TAV. METHODS: Aorta specimens and DNA samples were collected from 24 BAV (18 men and 6 women; mean age: 54.2 ± 14.39 years) and 110 TAV (79 men and 31 women, mean age: 66 ± 9.8 years) patients. A control group of 128 subjects (61 men and 67 woman, mean age: 61.1 ± 5.8 years) was also enrolle…
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia
2004
The clinical expression of heterozygous familial hypercholesterolemia (FH) is highly variable even in patients carrying the same LDL receptor (LDL-R) gene mutation. This variability might be due to environmental factors as well as to modifying genes affecting lipoprotein metabolism. We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations. We found a significant and independent effect of the following polymorphisms on: (i) plasma LDL-C (Apo E, MTP and Apo B); (ii) plasma HDL-C (HL, …
Serum lipid responses to phytosterol-enriched milk in a moderate hypercholesterolemic population is not affected by apolipoprotein E polymorphism or …
2011
Background/Objectives: The importance of both low-density lipoprotein cholesterol (LDLc) size and the apolipoprotein E (Apo E) in the atherogenic process is known, but there is little information with regard to the effect of phytosterols (PS) on these parameters. The aim of this study was to evaluate the influence of PS on lipid profile and LDLc size according to Apo E genotype. Subjects/Methods: This was a randomized parallel trial employing 75 mild-hypercholesterolemic subjects and consisting of two 3-month intervention phases. After 3 months of receiving a standard healthy diet, subjects were divided into two intervention groups: a diet group (n = 34) and a diet+PS group (n = 41) that re…
Apolipoprotein E polymorphism is associated with both senile plaque load and Alzheimer-type neurofibrillary tangle formation.
1996
Recent work provided evidence that the apolipoprotein (apo) E polymorphism is associated with late-onset sporadic Alzheimer's disease. The major histological hallmarks of Alzheimer's disease are the extraneuronal deposition of A4/beta-amyloid and the intraneuronal formation of neurofibrillary tangles, the latter correlating strongly with the psychometric status. We examined the relationship between the apo E polymorphism and Alzheimer's disease-related histological changes using a staging system which accounts for the progression of the disease over time and correlates well with the cognitive decline ante mortem. We observed a significant positive correlation between both neurofibrillary ch…
Apoptosis and pAKT levels in cumulus cells of patients undergoing in vitro fertilization program with specific polymorphisms of gonadotropins and the…
2016
Study question Is there a difference in oocyte competence among patients with different gonadotrophin polymorphisms, after ovarian stimulation with r-FSH? Summary Answer Higher DNA Fragmentation Index and cleaved caspase-3 related to lower level of pAKT has been observed in patients with specific gonadotrophin polymorphism (FSHR and LHB). What is known already • In our experience, the DFI, the percentage of cleaved caspase-3 and the pAKT on cumulus cells can be used as molecular markers of oocyte competence; • The polymorphic variant of LHB is characterized by an extra glycosylation signal into the β subunit. This molecular variation influences the pharmacokinetic properties of v-betaLH, sh…
RELATIONSHIP BETWEEN DNA FRAGMENTATION INDEX AND pAKT IN CUMULUS CELLS: NEW MARKERS OF OOCYTE COMPETENCE
2016
The specific LH and FSH polymorphisms could influence the growth of follicles and oocytes.Some studies have shown that certain single nucleotide polymorphisms of FSHR are associated with changes in the ovarian activity, having functional implications in human reproduction. Carriers of polymorphic variant of betaLH show sub-optimal ovarian response to the standard long GnRH-agonist down-regulation protocol, when stimulated with recombinant FSH. No studies have been designed relating the polymorphic variants of FSHR and LHB with the oocyte competence. In previous studies, we demonstrated the correlation between the apoptosis rate and the expression level of some survival pathways molecules, a…