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排序方式: 共有85条查询结果,搜索用时 203 毫秒
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Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs 总被引:1,自引:0,他引:1
Lee SH DeCandia TR Ripke S Yang J;Schizophrenia Psychiatric Genome-Wide Association Study Consortium 《Nature genetics》2012,44(3):247-250
Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to schizophrenia is captured by SNPs. We show that a substantial proportion of this variation must be the result of common causal variants, that the variance explained by each chromosome is linearly related to its length (r = 0.89, P = 2.6 × 10(-8)), that the genetic basis of schizophrenia is the same in males and females, and that a disproportionate proportion of variation is attributable to a set of 2,725 genes expressed in the central nervous system (CNS; P = 7.6 × 10(-8)). These results are consistent with a polygenic genetic architecture and imply more individual SNP associations will be detected for this disease as sample size increases. 相似文献
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Extremely low-coverage sequencing and imputation increases power for genome-wide association studies 总被引:1,自引:0,他引:1
Pasaniuc B Rohland N McLaren PJ Garimella K Zaitlen N Li H Gupta N Neale BM Daly MJ Sklar P Sullivan PF Bergen S Moran JL Hultman CM Lichtenstein P Magnusson P Purcell SM Haas DW Liang L Sunyaev S Patterson N de Bakker PI Reich D Price AL 《Nature genetics》2012,44(6):631-635
Genome-wide association studies (GWAS) have proven to be a powerful method to identify common genetic variants contributing to susceptibility to common diseases. Here, we show that extremely low-coverage sequencing (0.1-0.5×) captures almost as much of the common (>5%) and low-frequency (1-5%) variation across the genome as SNP arrays. As an empirical demonstration, we show that genome-wide SNP genotypes can be inferred at a mean r(2) of 0.71 using off-target data (0.24× average coverage) in a whole-exome study of 909 samples. Using both simulated and real exome-sequencing data sets, we show that association statistics obtained using extremely low-coverage sequencing data attain similar P values at known associated variants as data from genotyping arrays, without an excess of false positives. Within the context of reductions in sample preparation and sequencing costs, funds invested in extremely low-coverage sequencing can yield several times the effective sample size of GWAS based on SNP array data and a commensurate increase in statistical power. 相似文献
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K A Sullivan R T Miller S B Masters B Beiderman W Heideman H R Bourne 《Nature》1987,330(6150):758-760
The mammalian G proteins transduce information from extracellular signals, including neurotransmitters, hormones and sensory stimuli, into regulation of effector enzymes or ion channels within cells. Triggered by appropriate extracellular signals, receptor proteins specifically activate members of the G protein family by catalysing replacement of GDP by GTP at the guanine nucleotide binding site. Like the receptor proteins, the heterotrimeric G proteins exhibit impressive structural similarities, suggesting that all receptor-G protein interactions use homologous structural elements and a single molecular mechanism. Topologically equivalent portions of each G protein may therefore interact with the appropriate receptor. We recently predicted the secondary structure of a composite G protein alpha-chain and proposed that a predicted amphipathic alpha-helix at the extreme carboxy-terminus of the polypeptide directly contacts receptors. This proposal has now been confirmed by sequencing complementary DNAs of the gene that encodes the alpha-chain (alpha s) of the stimulatory regulator (Gs) of adenylyl cyclase in wild-type cells and in a mutant mouse S49 lymphoma cell line, unc, in which Gs cannot be activated by hormone receptors. The sequences reveal a point mutation in the unc gene that substitutes a proline residue for an arginine near the carboxy-terminus of the alpha s-polypeptide. Expression of recombinant alpha s-unc in genetically alpha s-deficient S49 cells reproduces the unc phenotype. 相似文献
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S. G. Sullivan Dorothy A. Potter Marjorie R. Krauss J. Dancis R. P. Cox 《Cellular and molecular life sciences : CMLS》1979,35(8):1043-1044
Summary Valine decarboxylation was significantly increased and leucine decarboxylation was significantly decreased in rat liver slices following hypophysectomy. In both normal and hypophysectomized rats decarboxylation of leucine exceeded that of valine in slices whereas the reverse was observed with the respective keto acids and mitochondria.Acknowledgments. This study was supported by the National Institutes of Health and the Samuel A. Berger Foundation. 相似文献
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W. N. Sullivan M. Z. Oliver D. K. Hayes M. S. Schechter 《Cellular and molecular life sciences : CMLS》1970,26(10):1101-1102
Zusammenfassung Im 12-h Kurztag gehaltenePectinophora gossypiella gehen zu 78% in Diapause. Zusätzlich applizierte, einstÜndige Perioden mit 15 Lichtpulsen von je 1 min Dauer reduzieren die Diapauserate. Die besten Resultate ergeben 2 Pulsperioden, je 1,5 h vor und nach der Hellphase appliziert. 相似文献