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31.
We report the genetic map location of 14 genes involved in the inflammatory response to salmonid bacterial and viral pathogens, which brings the total number of immune genes mapped in rainbow trout (RT, Oncorhynchus mykiss) to 61. These genes were mapped as candidate genes that may be involved in resistance to bacterial kidney disease, as well as candidates for known QTL for resistance to infectious hematopoietic necrosis virus, infectious pancreatic necrosis virus and Ceratomyxa shasta. These QTL map to one or more of the linkage groups containing immune genes. The combined analysis of these linkage results and those of previously mapped immune genes in RT shows that many immune genes are found in syntenic blocks of genes that have been retained in teleosts despite species divergence and genome duplication events. 相似文献
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Marie S. Rye Mahmood F. Bhutta Michael T. Cheeseman David Burgner Jenefer M. Blackwell Steve D. M. Brown Sarra E. Jamieson 《Mammalian genome》2011,22(1-2):66-82
Otitis media (OM) is among the most common illnesses of early childhood, characterised by the presence of inflammation in the middle ear cavity. Acute OM and chronic OM with effusion (COME) affect the majority of children by school age and have heritability estimates of 40?C70%. However, the majority of genes underlying this susceptibility are, as yet, unidentified. One method of identifying genes and pathways that may contribute to OM susceptibility is to look at mouse mutants displaying a comparable phenotype. Single-gene mouse mutants with OM have identified a number of genes, namely, Eya4, Tlr4, p73, MyD88, Fas, E2f4, Plg, Fbxo11, and Evi1, as potential and biologically relevant candidates for human disease. Recent studies suggest that this ??mouse-to-human?? approach is likely to yield relevant data, with significant associations reported between polymorphisms at the FBXO11, TLR4, and PAI1 genes and disease in humans. An association between TP73 and chronic rhinosinusitis has also been reported. In addition, the biobanks of available mouse mutants provide a powerful resource for functional studies of loci identified by future genome-wide association studies of OM in humans. Mouse models of OM therefore are an important component of current approaches attempting to understand the complex genetic susceptibility to OM in humans, and which aim to facilitate the development of preventative and therapeutic interventions for this important and common disease. 相似文献
33.
Jakris Eu-ahsunthornwattana E. Nancy Miller Michaela Fakiola Wellcome Trust Case Control Consortium Selma M. B. Jeronimo Jenefer M. Blackwell Heather J. Cordell 《PLoS genetics》2014,10(7)
Approaches based on linear mixed models (LMMs) have recently gained popularity for modelling population substructure and relatedness in genome-wide association studies. In the last few years, a bewildering variety of different LMM methods/software packages have been developed, but it is not always clear how (or indeed whether) any newly-proposed method differs from previously-proposed implementations. Here we compare the performance of several LMM approaches (and software implementations, including EMMAX, GenABEL, FaST-LMM, Mendel, GEMMA and MMM) via their application to a genome-wide association study of visceral leishmaniasis in 348 Brazilian families comprising 3626 individuals (1972 genotyped). The implementations differ in precise details of methodology implemented and through various user-chosen options such as the method and number of SNPs used to estimate the kinship (relatedness) matrix. We investigate sensitivity to these choices and the success (or otherwise) of the approaches in controlling the overall genome-wide error-rate for both real and simulated phenotypes. We compare the LMM results to those obtained using traditional family-based association tests (based on transmission of alleles within pedigrees) and to alternative approaches implemented in the software packages MQLS, ROADTRIPS and MASTOR. We find strong concordance between the results from different LMM approaches, and all are successful in controlling the genome-wide error rate (except for some approaches when applied naively to longitudinal data with many repeated measures). We also find high correlation between LMMs and alternative approaches (apart from transmission-based approaches when applied to SNPs with small or non-existent effects). We conclude that LMM approaches perform well in comparison to competing approaches. Given their strong concordance, in most applications, the choice of precise LMM implementation cannot be based on power/type I error considerations but must instead be based on considerations such as speed and ease-of-use. 相似文献
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Léa Cristina Castellucci Lucas Frederico de Almeida Sarra Elisabeth Jamieson Michaela Fakiola Edgar Marcelino de Carvalho Jenefer Mary Blackwell 《Memórias do Instituto Oswaldo Cruz》2014,109(3):279-288
American cutaneous leishmaniasis (ACL) is a vector-transmitted infectious disease
with an estimated 1.5 million new cases per year. In Brazil, ACL represents a
significant public health problem, with approximately 30,000 new reported cases
annually, representing an incidence of 18.5 cases per 100,000 inhabitants. Corte de
Pedra is in a region endemic for ACL in the state of Bahia (BA), northeastern Brazil,
with 500-1,300 patients treated annually. Over the last decade, population and
family-based candidate gene studies were conducted in Corte de Pedra, founded on
previous knowledge from studies on mice and humans. Notwithstanding limitations
related to sample size and power, these studies contribute important genetic
biomarkers that identify novel pathways of disease pathogenesis and possible new
therapeutic targets. The present paper is a narrative review about ACL immunogenetics
in BA, highlighting in particular the interacting roles of the wound healing gene
FLI1 with interleukin-6 and genes SMAD2 and
SMAD3 of the transforming growth factor beta signalling pathway.
This research highlights the need for well-powered genetic and functional studies on
Leishmania braziliensis infection as essential to define and
validate the role of host genes in determining resistance/susceptibility regarding
this disease. 相似文献