解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Consistent but indirect evidence has implicated genetic factors in smoking behavior. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKl...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.571
更新日期:2010-05-01 00:00:00
abstract::To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = ...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.567
更新日期:2010-05-01 00:00:00
abstract::Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society. ...
journal_title:Nature genetics
pub_type: 社论
doi:10.1038/ng0510-363
更新日期:2010-05-01 00:00:00
abstract::Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males. In this study, we report the identification of inactivating mutations and deletions in the...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.542
更新日期:2010-04-01 00:00:00
abstract::Genome-wide analyses of human lung adenocarcinoma have identified regions of consistent copy-number gain or loss, but in many cases the oncogenes and tumor suppressors presumed to reside in these loci remain to be determined. Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.527
更新日期:2010-03-01 00:00:00
abstract::Antimalarial drugs impose strong selective pressure on Plasmodium falciparum parasites and leave signatures of selection in the parasite genome; screening for genes under selection may suggest potential drug or immune targets. Genome-wide association studies (GWAS) of parasite traits have been hampered by the lack of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.528
更新日期:2010-03-01 00:00:00
abstract::The electrocardiographic PR interval (or PQ interval) reflects atrial and atrioventricular nodal conduction, disturbances of which increase risk of atrial fibrillation. We report a meta-analysis of genome-wide association studies for PR interval from seven population-based European studies in the CHARGE Consortium: AG...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.517
更新日期:2010-02-01 00:00:00
abstract::Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B cells. Targeted resequencing studies have revealed mutations in various genes encoding proteins in the NF-kappaB pathway that contribute to the activated B-cell (ABC) DLBCL subtype, but thus far few GCB-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.518
更新日期:2010-02-01 00:00:00
abstract::Mutation of the gene PARK2, which encodes an E3 ubiquitin ligase, is the most common cause of early-onset Parkinson's disease. In a search for multisite tumor suppressors, we identified PARK2 as a frequently targeted gene on chromosome 6q25.2-q27 in cancer. Here we describe inactivating somatic mutations and frequent ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.491
更新日期:2010-01-01 00:00:00
abstract::The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.494
更新日期:2010-01-01 00:00:00
abstract::Gene-environment associations are important in rheumatoid arthritis (RA) susceptibility, with an association existing between smoking, HLA- DRB1 'shared epitope' alleles, PTPN22 and antibodies to cyclic citrullinated peptides (CCP). Here, we test the hypothesis that a subset of the anti-CCP response, with specific aut...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.480
更新日期:2009-12-01 00:00:00
abstract::Aggregate results from genome-wide association studies (GWAS), such as genotype frequencies for cases and controls, were until recently often made available on public websites because they were thought to disclose negligible information concerning an individual's participation in a study. Homer et al. recently suggest...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.455
更新日期:2009-11-01 00:00:00
abstract::Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.466
更新日期:2009-11-01 00:00:00
abstract::Polycomb Group (PcG) proteins silence critical developmental genes and modulate cell proliferation. Using the Drosophila melanogaster eye as a model system, we show that cells with mutations in the gene locus (ph) that encodes the PcG protein Polyhomeotic (PH) overproliferate and lose both the ability to differentiate...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.414
更新日期:2009-10-01 00:00:00
abstract::Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with T2D and studied these SNPs in an independent sample of 4,977 Fren...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.443
更新日期:2009-10-01 00:00:00
abstract::Recent studies have demonstrated that statistical methods can be used to detect the presence of a single individual within a study group based on summary data reported from genome-wide association studies (GWAS). We present an analytical and empirical study of the statistical power of such methods. We thereby aim to p...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.436
更新日期:2009-09-01 00:00:00
abstract::We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association ...
journal_title:Nature genetics
pub_type: 信件
doi:10.1038/ng.421
更新日期:2009-09-01 00:00:00
abstract::We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.419
更新日期:2009-08-01 00:00:00
abstract::Targeting of cancer stem cells is believed to be essential for curative therapy of cancers, but supporting evidence is limited. Few selective target genes in cancer stem cells have been identified. Here we identify the arachidonate 5-lipoxygenase (5-LO) gene (Alox5) as a critical regulator for leukemia stem cells (LSC...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.389
更新日期:2009-07-01 00:00:00
abstract::Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.381
更新日期:2009-06-01 00:00:00
abstract::We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.386
更新日期:2009-06-01 00:00:00
abstract::Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.380
更新日期:2009-06-01 00:00:00
abstract::We conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173 SNPs in 1,145 cases of invasive breast cancer and 1,142 controls. In stage 2, we analyzed 24,909 top S...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.353
更新日期:2009-05-01 00:00:00
abstract::Grain yield is controlled by quantitative trait loci (QTLs) derived from natural variations in many crop plants. Here we report the molecular characterization of a major rice grain yield QTL that acts through the determination of panicle architecture. The dominant allele at the DEP1 locus is a gain-of-function mutatio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.352
更新日期:2009-04-01 00:00:00
abstract::Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Iceland...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.323
更新日期:2009-03-01 00:00:00
abstract::Cells respond to stimuli by changes in various processes, including signaling pathways and gene expression. Efforts to identify components of these responses increasingly depend on mRNA profiling and genetic library screens. By comparing the results of these two assays across various stimuli, we found that genetic scr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.337
更新日期:2009-03-01 00:00:00
abstract::Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. We identified seven unrelated individuals with submicroscopic duplication in 17p13.3 involving the PAFAH1B1 and/or ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.302
更新日期:2009-02-01 00:00:00
abstract::Obesity results from the interaction of genetic and environmental factors. To search for sequence variants that affect variation in two common measures of obesity, weight and body mass index (BMI), both of which are highly heritable, we performed a genome-wide association (GWA) study with 305,846 SNPs typed in 25,344 ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.274
更新日期:2009-01-01 00:00:00
abstract::Genome-wide association studies (GWAS) of longitudinal birth cohorts enable joint investigation of environmental and genetic influences on complex traits. We report GWAS results for nine quantitative metabolic traits (triglycerides, high-density lipoprotein, low-density lipoprotein, glucose, insulin, C-reactive protei...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.271
更新日期:2009-01-01 00:00:00
abstract::Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.303
更新日期:2009-01-01 00:00:00
abstract::Motile cilia induce fluid movement through their rhythmic beating activity. In mammals, the transcription factor Foxj1 has been implicated in motile cilia formation. Here we show that a zebrafish Foxj1 homolog, foxj1a, is a target of Hedgehog signaling in the floor plate. Loss of Foxj1a compromises the assembly of mot...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.263
更新日期:2008-12-01 00:00:00
abstract::We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.254
更新日期:2008-12-01 00:00:00
abstract::Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 proba...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.279
更新日期:2008-12-01 00:00:00
abstract::We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metab...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.246
更新日期:2008-11-01 00:00:00
abstract::SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.236
更新日期:2008-10-01 00:00:00
abstract::CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.194
更新日期:2008-09-01 00:00:00
abstract::We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.190
更新日期:2008-08-01 00:00:00
abstract::Detailed analyses of the clone-based genome assembly reveal that the recent duplication content of mouse (4.94%) is now comparable to that of human (5.5%), in contrast to previous estimates from the whole-genome shotgun sequence assembly. However, the architecture of mouse and human genomes differs markedly: most mous...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.172
更新日期:2008-07-01 00:00:00
abstract::Gastric cancer is classified into intestinal and diffuse types, the latter including a highly malignant form, linitis plastica. A two-stage genome-wide association study (stage 1: 85,576 SNPs on 188 cases and 752 references; stage 2: 2,753 SNPs on 749 cases and 750 controls) in Japan identified a significant associati...
journal_title:Nature genetics
pub_type: 杂志文章,多中心研究
doi:10.1038/ng.152
更新日期:2008-06-01 00:00:00
abstract::We aimed to identify genetic variants associated with heart failure by using a rat model of the human disease. We performed invasive cardiac hemodynamic measurements in F2 crosses between spontaneously hypertensive heart failure (SHHF) rats and reference strains. We combined linkage analyses with genome-wide expressio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.129
更新日期:2008-05-01 00:00:00