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Hakon Hakonarson and colleagues report a genome-wide copy number variation study in 3,506 cases of attention-deficit hyperactivity disorder. The authors identify a statistically significant enrichment of CNVs impacting metabotropic glutamate receptor genes.
Peter Laird and colleagues performed whole-genome bisulfite sequencing in a human colorectal tumor and a matched normal sample. They find regions of methylation variation that coincide with domains associated with the nuclear lamina.
Richard Houlston, Gareth Morgan, Kari Hemminki and colleagues report the results of a genome-wide association study of multiple myeloma. They identify two regions influencing susceptibility to this hematological malignancy.
Zhi-Ying Wu and colleagues report the identification of truncating mutations in the PRRT2 gene in families with paroxysmal kinesigenic dyskinesia. PRRT2 encodes the proline-rich transmembrane protein 2.
Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia.
The Hong Kong–Shanghai, Korean, Taiwan, US and International Kawasaki Disease Genetics Consortia report a genome-wide association study in Kawasaki disease. They identify a novel locus in the FCGR2A gene that confers elevated risk of disease.
Roy Kishony and colleagues sequenced the genomes of 112 Burkholderia dolosa isolates recovered from 14 individuals with cystic fibrosis as part of a retrospective study from a hospital epidemic monitored over the course of 16 years. They tracked recurrent mutations occurring in the bacterial isolates and found that 17 genes showed evidence of parallel adaptive evolution.
Ben Lehner and colleagues report an analysis of the published genome sequences of 19 S. cerevisiae strains together with the results of growth experiments using 15 strains across 20 environmental conditions. They define sets of genes influencing growth under these different conditions and use their data to make predictions about the phenotypes of individual strains.
Adrienne Flanagan and colleagues report the identification of somatic mosaic mutations in the IDH1 and IDH2 genes in tumors from individuals with Ollier disease and Maffucci syndrome, diseases that are characterized by the presence of multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome.
David van Heel, Cisca Wijmenga and colleagues used a custom, high-density genotyping chip to examine 183 immune-related loci for their role in celiac disease. They report 13 new regions associated with celiac disease risk, identify multiple independent signals at several loci and refine the localization of many previously reported risk signals.
Judith Bovée and colleagues report the identification of somatic mosaic mutations in IDH1 and IDH2 in tumors from individuals with Ollier disease and Maffucci syndrome, which are non-hereditary skeletal disorders characterized by multiple enchondromas.
Douglas Winton and colleagues report the results of a large insertional mutagenesis screen to identify drivers of intestinal tumorigenesis in mice. The study identifies a large number of potential cancer drivers, including new modifiers of canonical Wnt signaling and components of the FGF pathway.
Hongbing Shen, Dongxin Lin, Yongyong Shi and colleagues identify two new susceptibility loci for non-cardia gastric cancer. They also confirm three previously reported risk loci for this gastric cancer subtype.
Dai Zhang and colleagues report a genome-wide association study for schizophrenia in the Han Chinese population. They identify a new susceptibility locus at 11p11.2 and also identify a locus at 6p21-22.1 in the extended MHC region, which has previously been reported to be associated with schizophrenia in individuals of European descent.
Christopher Haiman and colleagues report a genome-wide association study for estrogen receptor (ER)-negative breast cancer in women of African and European ancestry. They identify a variant at the TERT-CLPTM1L locus on 5p15 as associated with ER-negative and triple-negative breast cancer. This locus also harbors multiple variants associated with a range of other cancers.
Yongyong Shi, Lin He and colleagues report a genome-wide association study for schizophrenia in the Han Chinese population. They identify two new susceptibility loci on 8p12 and 1q24.2.
Suet Leung, Jiangchun Xu and colleagues report exome sequencing of 22 gastric cancers. They found that genes involved in chromatin modification were commonly mutated, including ARID1A encoding an SWI/SNF chromatin-remodeling complex component that had a high rate of mutation.
Fowzan Alkuraya and colleagues report the identification of a truncating mutation in DNASE1L3 in six families with an autosomal recessive Mendelian form of systemic lupus erythematosus, a complex autoimmune disease.
Qifa Zhang and colleagues report the map-based cloning of the quantitative trait locus GS5, which regulates grain size and yield in rice. GS5 encodes a putative serine carboxypeptidase and increased expression is associated with larger grain.
Shiro Ikegawa and colleagues identify common variants near LBX1 associated with adolescent idiopathic scoliosis. LBX1 encodes a homeobox protein expressed in the dorsal spinal cord and skeletal muscle that may contribute to scoliosis risk by altering somatosensory function.