Search results for " polymorphisms"

Role of TLR4 Receptor Polymorphisms in Boutonneuse Fever

2005

The genetics of the interaction between host and microbes plays an essential role in the survival of the individual and attainment of longevity. The activation of toll-like receptor (TLR)4 plays a key role in natural and clonotypic immune responses. We evaluated whether TLR4 genotype is a component of genetic background protective versus rickettsiosis and whether this background influences longevity. We genotyped for +896A/G TLR4 polymorphism 78 patients affected by Boutonneuse fever, 78 age-matched controls and 78 advanced age individuals from Sicily. The +869G allele, that attenuates receptor signalling, was significantly overrepresented in patients in comparison with age-matched control…

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 […

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…

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, …

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…

BDNF polymorphisms and outcome of post-traumatic vegetative state: results from an Italian multicentric study

2011

BCL2 gene polymorphisms and splicing variants in chronic myeloid leukemia.

2015

Recent data suggest that constitutional genetic variation in the antiapoptotic BCL2 gene could be associated with the susceptibility to develop chronic myeloid leukemia (CML) and the clinical outcome in several hematological malignancies. The present study examines whether BCL2 single nucleotide polymorphisms (SNPs) predispose to CML or may potentially influence the disease characteristics at diagnosis. Notably, no association was observed between the four candidate BCL2 SNPs and the risk of developing CML. Instead, the 4777C>A (rs2279115) and the 5735A>G (rs1801018) SNPs were significantly associated with the disease risk profile as determined by the Sokal score. We found that such polymor…

Genetic instability in calamondin (Citrus madurensis Lour.) plants derived from somatic embryogenesis induced by diphenylurea derivative

2007

Somatic embryos were regenerated in vitro from calamondin style-stigma explants cultured in the presence of N (6)-benzylaminopurine (BAP) cytokinin and three synthetic phenylurea derivatives, N-(2-chloro-4-pyridyl)-N-phenylurea (4-CPPU), N-phenyl-N'-benzothiazol-6-ylurea (PBU) and N,N'-bis-(2,3-methilendioxyphenyl)urea (2,3-MDPU). The phenylurea derivative compounds tested at micromolar level (12 muM) were able to induce a percentage of responsive explants significantly higher from that obtained with BAP and hormone-free (HF) conditions. In order to verify the genetic stability of the regenerants, 27 plants coming from different embryogenic events were randomly selected from each different …

The Correlation Between Abnormal Uterine Artery Flow in the First Trimester and Genetic Thrombophilic Alteration: A Prospective Case-Controlled Pilot…

2020

Introduction. Evaluation of the first trimester uterine artery flow can predict the development of obstetrical complications. A genotype, making women prone to microthrombi. constitutes the main known susceptibility factor for anomalous development of placenta. Our aim was to study whether polymorphisms of 10 genes leading to blood clotting abnormalities are related to abnormal uterine artery blood flow in the first trimester, and may predict placenta-related diseases. Material and methods. In primary analyses we included 19 singleton pregnancies with abnormal blood flow in the uterine arteries during the first trimester of gestation, and 24 matched control with normal flow patterns. All pa…

Polymorphism of cytochrome P450 (CYP) genes and response to chemiotherapy in patients with colorectal cancer (CRC)

2014

Background: Genes coding for the cytochrome P450 (CYP) enzyme system implied in antineoplastic drug metabolism pathways are highly polymorphic. This may influence both carcinogen metabolism and drug pharmacodynamics modifying their therapeutic efficacy and side effects. Methods: We investigated the influence of genetic polymorphisms of CYP enzymes: rs1799853 (CYP2C9), rs35742686 (CYP2D), rs5030655 (CYP2D6/3), rs2740574 (CYP3A4/1) rs776746 (CYP3A5) on the response of chemotherapy and clinical outcomes, in a group of 56 patients affected by sporadic CRC, treated with the standard protocols. A total of 44 patients were in complete remission after treatment, 12 had persistence of the disease. P…