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PubMed2002

[Aedes aegypti, vector of the dengue virus: spatio-temporal structure of its genetic variation].

Aedes aegypti is the main vector of dengue viruses. Methods for limiting the spread of dengue outbreaks are currently based on vector control. Estimates of population genetic organization and gene flow with respect to vector capacity have provided great insights into dengue epidemiology. In Vietnam, dengue hemorrhagic fever was detected in the 1950's and becomes today the major problem of public health. Among factors influencing dengue epidemiology, ecological disturbances have a direct impact on vectorial system functioning. Human activities through urbanization creating sanitary conditions are convenient to the vector proliferation and then, to dengue endemisation. To assess the role of the vector in the changing pattern of dengue in South-East Asia, we studied the genetic differentiation and the vector competence towards dengue 2 virus at two scales: at a spatial level (a local scale (i.e., Ho Chi Minh City) and a regional scale (i.e., Cambodia, Thailand and South Vietnam) and at a temporal scale. This study allows to propose a model of Ae. aegypti population functioning according space and time. Dynamics of dengue virus diffusion in relation with the vector, depend on the population genetic composition and its evolution.

Aedes↗
PubMed2006

Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein.

A genetic link between lipid metabolism and inflammation has been suggested by the association between variation in the APOE gene and plasma C-reactive protein (CRP). This association was confirmed among Caucasians and extended to an African-American population, and the well-known associations of APOE variation with LDL-C and apoE protein were also observed. While eight common variants in APOE were examined, the association with CRP involved primarily the two nonsynonymous SNPs that define the major epsilon2, epsilon3, and epsilon4 alleles. In particular, the strongest link involved lower CRP levels among carriers of the APOE epsilon4 allele that also contributes to the risk of cardiovascular and Alzheimer's diseases as well as to higher lipid levels. A lesser effect was characterized by lower CRP levels among carriers of a subtype of the epsilon3 allele. The magnitude of the association with plasma CRP was at least as great as the effect of variation in the CRP gene itself. Quantitative analysis suggested that the effect on CRP is more likely a consequence of intrinsic functional differences among the E2, E3, and E4 apoE proteins than different levels of apoE protein or LDL-C in the plasma.

Alzheimer Disease↗
PubMed2000

Gender related association between genetic variations of APOC-III gene and lipid and lipoprotein variables in northern France.

The goal of the present study was to assess the impact of variability at the APOC-III insulin response element (APOC-III IRE) genetic locus on lipid, lipoprotein and complex lipoprotein particle levels as well as on the risk of dyslipidemia, in the population of northern France. To this end, 590 men and 579 women were randomly selected in the urban community of Lille in the framework of the MONICA project. Three polymorphisms, -482, -455 in the APOC-III insulin response element (IRE) and SstI in the 3'-noncoding region of the APOC-III gene locus were assessed. Compared to the most common alleles, the rare alleles of -482 and -455 were associated with increased levels of apoB-containing particles (LDL-cholesterol, apoB) and of triglyceride-related markers (apoC-III and LpC-III:B) in women, but not in men, suggesting a gender-related impact of APOC-III polymorphisms on these variables. Similarly, triglycerides, LpC-III:B and apoB were higher in women bearing the rare allele of SstI than in those with the most common allele. There was no evidence for any significant association between any of the -482, -455, and SstI alleles and lipid disorders (mixed hyperlipidemia, hypertriglyceridemia and hypercholesterolemia) in this sample of randomly selected men and women from northern France. In contrast, the prevalence of the haplotype that combined the rare alleles of the -482 and -455 sites was increased only in women with hypertriglyceridemia. Therefore, although the individual risk of hypertriglyceridemia is increased in women with the haplotype T, C at -482, -455, it appears that the -482, -455 and SstI APOC-III gene polymorphisms are not major contributors to the risk of dyslipidemia in the population of northern France.

Adult↗
PubMed1995

Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia.

Overexpression of plasma apolipoprotein CIII (apo CIII) causes hypertriglyceridemia in transgenic mice. A genetically variant form of the human apo CIII promoter, containing five single base pair changes, has been shown to be associated with severe hypertriglyceridemia in a patient population. In animals and in cultured cells the apo CIII gene is transcriptionally downregulated by insulin. In this study we demonstrate that, unlike the wild-type promoter, the variant promoter was defective in its response to insulin treatment, remaining constitutively active at all concentrations of insulin. The loss of insulin regulation was mapped to polymorphic sites at -482 and -455, which fall within a previously identified insulin response element. Loss of insulin regulation could result in overexpression of the apo CIII gene and contribute to the development of hypertriglyceridemia. The variant apo CIII promoter is common in the human population and may represent a major contributing factor to the development of hypertriglyceridemia.

Alleles↗
PubMed2002

Genetic variation in CYP2A6-mediated nicotine metabolism alters smoking behavior.

Approximately 50% of the initiation of tobacco dependence is genetically influenced, whereas maintenance of dependent smoking behavior and amount smoked have approximately 70% genetic contribution (1-5). Determining the variation in nicotine's inactivation is important because of nicotine's role in producing tobacco dependence and regulating smoking patterns (6-11). The genetically polymorphic CYP2A6 enzyme is responsible for the majority of the metabolic inactivation of nicotine to cotinine (12-14). Both in vitro and in vivo studies have demonstrated considerable interindividual variation in CYP2A6 activity (15-17). CYP2A6 is genetically polymorphic, individuals carrying inactive CYP2A6 alleles have decreased nicotine metabolism, are less likely to become smokers and if they do, they smoke fewer cigarettes per day (13,18,19). The decrease in smoking behavior was confirmed by measuring carbon monoxide (CO, a measure of smoke inhalation) levels, plasma and urine nicotine and cotinine levels, and cigarette counts (13,18,19). A duplication variant in the CYP2A6 gene locus has been identified which increases nicotine inactivation and increases smoking (19). CYP2A6 can also activate tobacco smoke procarcinogens (e.g. NNK, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone); current studies are investigating the role of CYP2A6 in risk for lung cancer. Based on these epidemiologic data it was postulated that inhibition of CYP2A6 activity might be useful in a therapeutic context. Kinetic studies in humans indicated that selective CYP2A6 inhibitors decrease the metabolic removal of nicotine. It was also shown that inhibiting CYP2A6 in vivo (phenocopying, or mimicking the genetic defect) in smokers results in decreased smoking, making nicotine orally bioavailable, and the rerouting of procarcinogens to detoxifying pathways (20-22).

Aryl Hydrocarbon Hydroxylases↗
PubMed2006

Genetic variation in human gene expression.

Gene expression variation has been the focus of many studies in the past few years. The relevance of gene regulation and gene expression to disease and the development of the technologies used to screen large numbers of genes simultaneously have allowed this rapid development. In this review we discuss issues relating to the biological information one obtains from such studies and the biological significance and use of signals from mapping of gene expression variation.

Gene Expression Profiling↗