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Sjaak Philipsen and colleagues report that haploinsufficiency for KLF1 causes hereditary persistence of fetal hemoglobin in a large Maltese family. They further show that KLF1 is a key activator of BCL11A, which suppresses the expression of fetal hemoglobin.
Gangqiao Zhou and colleagues report a genome-wide association study for hepatocellular carcinoma in chronic hepatitis B virus carriers, identifying a new susceptibility locus at chromosome 1p36.22.
Robert Hegele and colleagues report a genome-wide association study for hypertriglyceridemia, followed by resequencing of the coding regions of candidate genes. They identify an excess of rare variants in affected individuals at four genes within the associated loci.
Thomas Bugge and colleagues report that the matriptase protease initiates an epidermal kallikrein proteolytic cascade in mice lacking Spink5, which encodes the serine protease inhibitor LEKTI. Loss of matriptase rescued some features of excessive proteolytic degradation of corneodesmosomes and inflammatory activation in LEKTI-deficient mice, which are a model of human Netherton syndrome.
Christine Skibola and colleagues identify variants at 6p21.32 associated with risk of follicular lymphoma, providing further support that variation in the MHC region influences risk of this disease. They also replicate previously reported risk variants for chronic lymphocytic leukemia.
Charles Paulding and colleagues report a genome-wide association study for susceptibility to lumiracoxib-induced liver injury. The study utilized lumiracoxib-treated cases with liver injury and lumiracoxib-treated controls, and included independent replication. The authors identify an association to a common HLA haplotype.
Michael Seldin and colleagues report a genome-wide association study and meta-analyses for primary biliary cirrhosis. They identify three loci newly associated with susceptibility to this autoimmune liver disease.
Katherine Siminovitch and colleagues report replication and fine-mapping studies for primary biliary cirrhosis. They identify three loci newly associated with susceptibility to this autoimmune liver disease.
Nobuhisa Mizuki and colleagues report a genome-wide association study for Behçet's disease, a chronic systemic inflammatory disorder, in a Japanese population. They identify variants at IL23R-IL12RB2 and IL10 associated with Behçet's disease.
Solveig Gretarsdottir, Kari Stefansson and colleagues report a genome-wide association study for abdominal aortic aneurysm. They identified a variant located within the DAB2IP gene on 9q33 associated with risk of developing abdominal aortic aneurysm.
Connie Bezzina and colleagues report a genome-wide association study for ventricular fibrillation in individuals with acute myocardial infarction, a leading cause of total and cardiovascular mortality.
Elaine Remmers and colleagues report a genome-wide association study for Behçet's Disease in a Turkish population. They identify associations in the Class I region of the MHC, IL10 and IL23R-IL12RB2.
Yusuke Nakamura and colleagues report a genome-wide association study for endometriosis in Japanese. The authors find that genetic variants in the CDKN2BAS locus at chromosome 9p21 are significantly associated with endometriosis.
Joop Jansen and colleagues report the identification of somatic mutations altering the histone methyltransferase EZH2 in myelodysplastic syndromes. They find EZH2 deletions, missense and frameshift mutations in about 23% of myelodysplastic syndrome samples.
Srinivasan Yegnasubramanian and colleagues show that androgen signaling promotes recruitment of androgen receptor and TOP2B to sites of TMPRSS2-ERG genomic breakpoints, triggering TOP2B-mediated double-strand breaks. These findings provide insights into the mechanism underlying this common prostate cancer gene fusion event.
Nicholas Cross and colleagues report the identification of somatic mutations altering the histone methyltransferase EZH2 in myeloid disorders. They identify monoallelic and biallelic EZH2 mutations in 7% of myeloid disorders, most commonly myelodysplastic and/or myeloproliferative neoplasms and myelofibrosis.
Samuel Singer and colleagues report an integrative genomic analysis of soft-tissue sarcomas. They survey sequence, copy number and mRNA expression in 207 individuals diagnosed with one of seven major high-grade sarcoma subtypes, and highlight subtype-specific alternations.
Mark McCarthy and colleagues identify twelve new risk loci for type 2 diabetes through a large-scale genome-wide association and replication study in individuals of European ancestry. The identified loci affect both beta-cell function and insulin action and are enriched for genes involved in cell cycle regulation.
Nilanjan Chatterjee and colleagues report an analysis of the number and effect size distribution of susceptibility variants identified from current genome-wide association studies. They estimate the number of susceptibility loci expected to be discovered by GWAS over a range of sample sizes and compare to recent findings from GWAS for height, Crohn's disease and several cancers.
Peter Visscher and colleagues report an analysis of the heritability explained by common variants identified through genome-wide association studies. They find that 45% of the variance for height can be explained by using a linear model to simultaneously consider the combined effect of common SNPs.