Genetic association study articles within Nature

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  • Article |

    Exome sequence analysis of more than 5,000 schizophrenia cases and controls identifies a polygenic burden primarily arising from rare, disruptive mutations distributed across many genes, among which are those encoding voltage-gated calcium ion channels and the signalling complex formed by the ARC protein of the postsynaptic density; as in autism, mutations were also found in homologues of known targets of the fragile X mental retardation protein.

    • Shaun M. Purcell
    • , Jennifer L. Moran
    •  & Pamela Sklar

  • Letter |

    A genome-wide association study meta-analysis of more than 100,000 subjects of European and Asian ancestries reveals 42 new risk loci for rheumatoid arthritis, with follow-up studies identifying 98 biological candidate genes that are either already being targeted by drugs or could be in the future.

    • Yukinori Okada
    • , Di Wu
    •  & Robert M. Plenge

  • Letter |

    A risk haplotype for type 2 diabetes is identified with four amino acid substitutions in SLC16A11, which is present at ∼50% frequency in Native American samples and ∼10% in east Asian samples, but is rare in European and African samples; SLC16A11 may alter hepatic lipid metabolism, causing an increase in triacylglycerol levels.

    • Amy L. Williams
    • , Suzanne B. R. Jacobs
    •  & Teresa Tusié-Luna

  • Article |

    Rare copy-number variants (CNVs) conferring risk of schizophrenia or autism affect fecundity of carriers in Iceland, and carriers of these CNVs who do not suffer disease or have not been diagnosed with intellectual disability show phenotypes in brain structure and cognitive abilities between those of non-carrier controls and patients with schizophrenia.

    • Hreinn Stefansson
    • , Andreas Meyer-Lindenberg
    •  & Kari Stefansson

  • Letter |

    Whole-exome sequencing reveals that a rare variant of phospholipase D3 (PLD3(V232M)) segregates with Alzheimer’s disease status in two independent families and doubles risk for the disease in case–control series, and that several other PLD3 variants increase risk for Alzheimer’s disease in African Americans and people of European descent.

    • Carlos Cruchaga
    • , Celeste M. Karch
    •  & Alison M. Goate

  • Letter |

    A search for variants in coding exons of 25 genome-wide association study risk genes in a large cohort of autoimmune patients finds that rare coding-region variants at known loci have a negligible role in common autoimmune disease susceptibility, arguing against the previously proposed rare-variant synthetic genome-wide association hypothesis.

    • Karen A. Hunt
    • , Vanisha Mistry
    •  & David A. van Heel

  • Article |

    A series of genetic studies have led to the discovery of novel independent loci and candidate genes associated with red blood cell phenotype; for a proportion of these genes potential single-nucleotide genetic variants are also identified, providing new insights into genetic pathways controlling red blood cell formation, function and pathology.

    • Pim van der Harst
    • , Weihua Zhang
    •  & John C. Chambers

  • Letter |

    A meta-analysis of previous genome-wide association studies of Crohn’s disease and ulcerative colitis, the two most common forms of inflammatory bowel disease, with a combined total of more than 75,000 cases and controls, finds that most loci contribute to both phenotypes and other immune-mediated disorders.

    • Luke Jostins
    • , Stephan Ripke
    •  & Judy H Cho

  • Letter |

    A meta-analysis of genome-wide association studies of phenotypic variation for height and body mass index in human populations using 170,000 samples shows that one single nucleotide polymorphism at the FTO locus, which is associated with obesity, is also associated with phenotypic variation.

    • Jian Yang
    • , Ruth J. F. Loos
    •  & Peter M. Visscher

  • Article
    | Open Access

    This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

    • Ian Dunham
    • , Anshul Kundaje
    •  & Ewan Birney

  • Article
    | Open Access

    A new resource for the analysis of population genomics and quantitative traits, the Drosophila melanogaster Genetic Reference Panel is presented.

    • Trudy F. C. Mackay
    • , Stephen Richards
    •  & Richard A. Gibbs

  • Article |

    A meta-analysis of genome-wide association studies in more than 66,000 individuals identifies 68 new genomic loci that reliably associate with platelet count and volume, and reveals new gene functions.

    • Christian Gieger
    • , Aparna Radhakrishnan
    •  & Nicole Soranzo

  • Article
    | Open Access

    The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • , David Altshuler (Co-Chair)
    •  & Gil A. McVean

  • Letter |

    This very large genome-wide association study identifies hundreds of new genetic variants influencing adult height in at least 180 loci enriched for genes involved in skeletal growth defects. The results show that the likely causal gene is often located near the most strongly associated variant, that many loci have multiple independently associated variants and that associated variants are enriched for likely functional effects on genes.

    • Hana Lango Allen
    • , Karol Estrada
    •  & Joel N. Hirschhorn

  • Article |

    Here, the analysis of 'HapMap 3' is reported — a public data set of genomic variants in human populations. The resource integrates common and rare single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) from 11 global populations, providing insights into population-specific differences among variants. It also demonstrates the feasibility of imputing newly discovered rare SNPs and CNPs.

    • David M. Altshuler
    • , Richard A. Gibbs
    •  & Jean E. McEwen

  • Letter |

    The genetic basis of alopecia areata, one of the most common human autoimmune diseases, is largely unknown. This study reports a genome-wide association for this trait that implies the involvement of acquired and innate immunity. Among significant associations are the cytomegalovirus UL16-binding protein genes, which encode activating ligands for the natural killer cell receptor, NKG2D, here implicated for the first time in any autoimmune disease.

    • Lynn Petukhova
    • , Madeleine Duvic
    •  & Angela M. Christiano

  • News |

    The genetic basis of common traits may be buried deeper than researchers had thought.

    • Alla Katsnelson

  • Letter |

    Genomic data from 14 Jewish Diaspora communities are here compared with data from 69 Old World non-Jewish populations, to investigate the demographic history of the Jewish people. Analyses shed new light on relationships between communities, reveal unappreciated genetic substructure within the Middle East, and trace the origins of most Jewish Diaspora communities to the Levant.

    • Doron M. Behar
    • , Bayazit Yunusbayev
    •  & Richard Villems

  • Article |

    High-throughput microscopy combined with gene silencing by RNA interference is a powerful method for studying gene function. Here, a genome-wide method is presented for phenotypic screening of each of the ∼21,000 human protein-coding genes, using two-day imaging of dividing cells with fluorescently labelled chromosomes. The method enabled the identification of hundreds of genes involved in biological functions such as cell division, migration and survival.

    • Beate Neumann
    • , Thomas Walter
    •  & Jan Ellenberg

  • Article |

    Copy number variants (CNVs) account for a major proportion of human genetic diversity and may contribute to genetic susceptibility to disease. Here, a large, genome-wide study of association between common CNVs and eight common human diseases is presented. The study provides a wealth of technical insights that will inform future study design and analysis. The results also indicate that common CNVs that can be 'typed' on existing platforms are unlikely to contribute much to the genetic basis of common diseases.

    • Nick Craddock
    • , Matthew E. Hurles
    •  & Peter Donnelly

  • Letter |

    Here, large-scale genome-wide association studies were carried out with the naturally occurring inbred lines of Arabidopsis thaliana, which can be genotyped once and phenotyped repeatedly. The results range from significant associations, usually corresponding to single genes, to findings that are more difficult to interpret, because confounding by complex genetics and population structure makes it hard to distinguish true associations from false.

    • Susanna Atwell
    • , Yu S. Huang
    •  & Magnus Nordborg

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