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171.
Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population
Carolien G. de Kovel Flip Mulder Jessica van Setten Ruben van ‘t Slot Abdullah Al-Rubaish Abdullah M. Alshehri Khalid Al Faraidy Abdullah Al-Ali Mohammed Al-Madan Issa Al Aqaili Emmanuel Larbi Rudaynah Al-Ali Alhusain Alzahrani Folkert W. Asselbergs Bobby P. C. Koeleman Amein Al-Ali 《PloS one》2016,11(2)
Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates associated with CAD have shown an exceptional increase particularly in fast developing economies like the Kingdom of Saudi Arabia (KSA). Over the past twenty years, CAD has become the leading cause of death in KSA and has reached epidemic proportions. This rise is undoubtedly caused by fast urbanization that is associated with a life-style that promotes CAD. However, the question remains whether genetics play a significant role and whether genetic susceptibility is increased in KSA compared to the well-studied Western European populations. Therefore, we performed an Exome-wide association study (EWAS) in 832 patients and 1,076 controls of Saudi Arabian origin to test whether population specific, strong genetic risk factors for CAD exist, or whether the polygenic risk score for known genetic risk factors for CAD, lipids, and Type 2 Diabetes show evidence for an enriched genetic burden. Our results do not show significant associations for a single genetic locus. However, the heritability estimate for CAD for this population was high (h2 = 0.53, S.E. = 0.1, p = 4e-12) and we observed a significant association of the polygenic risk score for CAD that demonstrates that the population of KSA, at least in part, shares the genetic risk associated to CAD in Western populations. 相似文献
172.
Saskia Decuypere Jessica Maltha Stijn Deborggraeve Nicholas J. W. Rattray Guiraud Issa Kaboré Bérenger Palpouguini Lompo Marc C. Tahita Thusitha Ruspasinghe Malcolm McConville Royston Goodacre Halidou Tinto Jan Jacobs Jonathan R. Carapetis 《PLoS neglected tropical diseases》2016,10(3)
IntroductionNon-malaria febrile illnesses such as bacterial bloodstream infections (BSI) are a leading cause of disease and mortality in the tropics. However, there are no reliable, simple diagnostic tests for identifying BSI or other severe non-malaria febrile illnesses. We hypothesized that different infectious agents responsible for severe febrile illness would impact on the host metabololome in different ways, and investigated the potential of plasma metabolites for diagnosis of non-malaria febrile illness.MethodologyWe conducted a comprehensive mass-spectrometry based metabolomics analysis of the plasma of 61 children with severe febrile illness from a malaria-endemic rural African setting. Metabolite features characteristic for non-malaria febrile illness, BSI, severe anemia and poor clinical outcome were identified by receiver operating curve analysis.ConclusionsThis study demonstrates the potential use of plasma metabolites to identify causality in children with severe febrile illness in malaria-endemic settings. 相似文献
173.
Ivy E Dick Worawan B Limpitikul Jacqueline Niu Rahul Banerjee John B Issa Manu Ben-Johny 《Channels (Austin, Tex.)》2016,10(1):20-32
David T. Yue was a renowned biophysicist who dedicated his life to the study of Ca2+ signaling in cells. In the wake of his passing, we are left not only with a feeling of great loss, but with a tremendous and impactful body of work contributed by a remarkable man. David's research spanned the spectrum from atomic structure to organ systems, with a quantitative rigor aimed at understanding the fundamental mechanisms underlying biological function. Along the way he developed new tools and approaches, enabling not only his own research but that of his contemporaries and those who will come after him. While we cannot hope to replicate the eloquence and style we are accustomed to in David's writing, we nonetheless undertake a review of David's chosen field of study with a focus on many of his contributions to the calcium channel field. 相似文献
174.
Goldstein DB; Zhivotovsky LA; Nayar K; Linares AR; Cavalli-Sforza LL; Feldman MW 《Molecular biology and evolution》1996,13(9):1213-1218
It has recently been suggested that observed levels of variation at
microsatellite loci can be used to infer patterns of selection in genomes
and to assess demographic history. In order to evaluate the feasibility of
these suggestions it is necessary to know something about how levels of
variation at microsatellite loci are expected to fluctuate due simply to
stochasticity in the processes of mutation and inheritance (genetic
sampling). Here we use recently derived properties of the stepwise mutation
model to place confidence intervals around the variance in repeat score
that is expected at mutation-drift equilibrium and outline a statistical
test for whether an observed value differs significantly from expectation.
We also develop confidence intervals for the time course of the buildup of
variation following a complete elimination of variation, such as might be
caused by a selective sweep or an extreme population bottleneck. We apply
these methods to the variation observed at human Y-specific
microsatellites. Although a number of authors have suggested the
possibility of a very recent sweep, our analyses suggest that a sweep or
extreme bottleneck is unlikely to have occurred anytime during the last
approximately 74,000 years. To generate this result we use a recently
estimated mutation rate for microsatellite loci of 5.6 x 10(-4) along with
the variation observed at autosomal microsatellite loci to estimate the
human effective population size. This estimate is 18,000, implying an
effective number of 4,500 Y chromosomes. One important general conclusion
to emerge from this study is that in order to reject mutation-drift
equilibrium at a set of linked microsatellite loci it is necessary to have
an unreasonably large number of loci unless the observed variance is far
below that expected at mutation-drift equilibrium.
相似文献
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177.
Yousof Gheisari Seyed Mahdi Nassiri Ehsan Arefian Naser Ahmadbeigi Kayhan Azadmanesh Mansour Jamali Issa Jahanzad Sirous Zeinali Mohammad Vasei Masoud Soleimani 《Cytotherapy》2010,12(3):303-312
Background aimsTissue-specific stem cells are a promising target for kidney regeneration, because it has been shown that they play a primary role in kidney repair. Several methods have been developed for the isolation of stem/progenitor cells from healthy kidneys but the existence of these cells in chronically damaged kidneys has not been noticed so far.MethodsA mouse model of chronic kidney failure was developed by ligation of the left ureter for 5 months, and then isolation of stem cells from this tissue as well as normal kidneys was attempted.ResultsWe found that multipotent stem cells could be isolated from both types of tissue. In addition, the cells isolated from damaged kidneys showed potential for homing to the site of injury and a renoprotective effect in an animal model of cisplatin-induced nephropathy.ConclusionsThese results show that multipotent renoprotective stem cells exist in severely damaged kidneys, which could be a target for designing new therapies. 相似文献
178.
179.
Mariana Lázaro Sales Antônio Augusto Fonseca Jr. Érica Bravo Sales Ana Cláudia Pinto Cottorello Marina Azevedo Issa Mikael Arrais Hodon Paulo Martins Soares Filho Alberto Knust Ramalho Marcio Roberto Silva Andrey Pereira Lage Marcos Bryan Heinemann 《Folia microbiologica》2014,59(5):433-438
Mycobacterium tuberculosis complex (MTC) comprises a group of bacteria that have a high degree of genetic similarity. Two species in this group, Mycobacterium tuberculosis and Mycobacterium bovis, are the main cause of human and bovine tuberculosis, respectively. M. bovis has a broader host range that includes humans; thus, the differentiation of mycobacterium is of great importance for epidemiological and public health considerations and to optimize treatment. The current study aimed to evaluate primers and molecular markers described in the literature to differentiate M. bovis and M. tuberculosis by PCR. Primers JB21/22, frequently cited in scientific literature, presented in our study the highest number of errors to identify M. bovis or M. tuberculosis (73 %) and primers Mb.400, designed to flank region of difference 4 (RD4), were considered the most efficient (detected all M. bovis tested and did not detect any M. tuberculosis tested). Although also designed to flank RD4, primers Mb.115 misidentified eight samples due to primer design problems. The results showed that RD4 is the ideal region to differentiate M. bovis from other bacteria classified in MTC, but primer design should be considered carefully. 相似文献
180.
Issa Bangoura Muhammad Tanvir Hossain Chowdhury Ji-Young Kang Ji-Young Cho Je-Cheon Jun Yong-Ki Hong 《Journal of applied phycology》2014,26(2):967-972
Value-added abalone Haliotis discus hannai containing bioactive phlorotannins is produced by simply changing the feed to phlorotannin-rich brown seaweed Ecklonia cava 2 weeks prior to harvesting. We assessed the accumulation of phlorotannins by feeding with the seaweed after 4 days of starvation. Reverse-phase high-performance liquid chromatography afforded isolation of the major phlorotannins, which were identified by mass spectrometry and 1H-nuclear magnetic resonance to be 7-phloroeckol and eckol. Throughout the E. cava feeding period of 20 days, 7-phloroeckolol accumulated in the flesh (foot muscle tissue), up to 0.85?±?0.21 mg g?1 dry weight of tissue after 12 days. Eckol reached 0.31?±?0.08 mg g?1 dry tissue after 14 days. Feeding Laminaria japonica as a control, we detected no phlorotannins in the abalone muscle tissue. Abalone seaweed consumption and growth rate were similar when fed with E. cava or L. japonica for 20 days. Reduction in phlorotannins to half-maximal accumulation took 1.0 and 2.7 days for 7-phloroeckol and eckol, respectively, after replacement of the feed with L. japonica. 相似文献