Search results for "Polymorphism"
showing 10 items of 1968 documents
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…
Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles.
2009
BACKGROUND: PCSK9 plays a key role in plasma cholesterol metabolism by modulating the expression of LDL receptors. OBJECTIVE AND METHODS: In this study we investigated the effects of two common polymorphism of the PCSK9 gene (E670G and I474V) on the intima media thickness of the common carotid artery and the possible relation with polymorphisms of apolipoprotein E in 1541 middle aged subjects selected from the general population enrolled in the PLIC study and confirmed the major findings in a second free-living population enrolled in the Ventimiglia study. RESULTS: 670G carriers showed significantly increased plasma total cholesterol, LDL-cholesterol, and Apo levels B while no significant d…
No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease.
2003
A great amount of evidence suggests that neuroinflammation may be a major pathogenetic mechanism in the pathophysiology of sporadic Alzheimer's Disease (sAD). Recently, polymorphisms in the endothelial nitric oxide synthase (NOS3) gene have been associated to late onset Alzheimer's Disease in a British population. However, other groups failed to replicate this finding in Asiatic and Caucasian populations. We conducted a case-control study including a clinically well-defined group of 149 sAD patients and 149 age and sex matched controls to test the association between NOS3 Glu298Asp polymorphism and sAD in an ethnically homogenous Italian population. All subjects were genotyped at NOS3 and a…
APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
2006
Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism. Methods: Studies of MS and APOE were identified by searches of PubMed, Biosis, Web of Science, Cochrane Review, and Embase. When possible, authors were contacted for individual genotype data. Meta-analyses of MS case-control data and family-based analyses were performed to assess the association of APOE epsilon genotype with dis…
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…
Apolipoprotein E polymorphism influences not only cerebral senile plaque load but also Alzheimer-type neurofibrillary tangle formation.
1995
Only recently, evidence was provided that apolipoprotein E allele epsilon 4 located on Chromosome 19 is associated with late onset (i.e. senile) sporadic Alzheimer's disease. Histologically, Alzheimer's disease is associated with intraneuronal neurofibrillary changes and extraneuronal A4/beta-amyloid deposition. We set out with a histological staging system which considers the gradual development of Alzheimer's disease-related histological changes over time and correlates highly with the cognitive decline ante mortem. Our analysis revealed that both the mean stage for A4/beta-amyloid deposits and the mean stage for neurofibrillary tangles get significantly shifted upwards in epsilon 4-carri…
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…
Geographical variation in wing polymorphism of the waterstrider Aquarius najas (Heteroptera, Gerridae)
1999
The waterstrider Aquarius najas is wingless in Northern Europe, while winged individuals occur frequently in Central and Southern Europe. To test if the latitudinal difference is genetically controlled, we collected mature individuals from 10 different populations and raised their offspring in ‘common garden’ laboratory conditions. Half of these populations were from southern and the other half from central Finland. Daylength and temperature do influence wing development among other species of waterstriders, and thus we maintained a similar short daylength and warm conditions for all populations. These conditions should be favourable for wing development in general. Among laboratory-bred in…