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Tom Karlsen and colleagues report a genome-wide association study for primary sclerosing cholangitis, a chronic bile duct disease. They identify susceptibility loci at MST1 and near BCL2L11.
Johannes Dauwerse and colleagues report the identification of mutations in the genes encoding subunits of RNA polymerases I and III, which are involved in transcription of rRNA and tRNA, in individuals with Treacher Collins syndrome. These findings support the hypothesis that TCS is a ribosomopathy.
Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.
Guillaume Lettre and colleagues report fine-mapping at three loci associated with variation in fetal hemoglobin levels. Their findings implicate multiple common and rare variants at these loci that collectively explain a substantial fraction of the heritable variation in this trait.
Michael Hammer and colleagues follow two recent conflicting reports regarding the ratio of X-linked to autosomal nucleotide diversity by examining this question in a larger resequencing dataset and in publicly available sequence data from six human genomes. They suggest that the patterns of nucleotide diversity are influenced by local selection near genes that more strongly affects the X chromosome than the autosomes.
Peter Robinson and colleagues performed exome sequencing on three siblings to identify mutations in PIGV in Hyperphosphatasia-Mental Retardation (HPMR) syndrome.
Adrian Hill and colleagues report a genome-wide association study for tuberculosis in cohorts from Ghana and The Gambia. They identify a host susceptibility loci for pulmonary tuberculosis disease at 18q11.2.
Tim Townes and colleagues show that knockdown of KLF1 in human and mouse adult erythroid progenitors results in reduced BCL11A levels and increased fetal hemoglobin expression. These findings suggest a potential strategy to activate fetal hemoglobin expression in individuals with β-thalassemia or sickle cell disease.
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.
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.
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.
Richard Spritz and colleagues identify variants on 3p13 and 6q27 associated with generalized vitiligo, a common autoimmune disorder with loss of melanocytes and depigmentation.
Cheryl Shoubridge and Jozef Gecz and colleagues report the identification of mutations in IQSEC2, a guanine nucleotide exchange factor for ARF GTPases, in individuals with non-syndromic intellectual disability.
Gudrun Rappold and colleagues report the identification of de novo deletions in SHANK2 in two unrelated individuals. One individual was diagnosed with autism spectrum disorder and the other with mental retardation. The authors also identified a de novo nonsense mutation in an individual diagnosed with autism spectrum disorder.
Francesco Cucca and colleagues perform a genome-wide association study for multiple sclerosis in Sardinians. The authors identify variants within CBLB that are associated with MS.
Richard Houlston and colleagues report a new risk locus for childhood acute lymphoblastic leukemia. The associated variant is located in the CDKN2A gene at chromosome 9p21.
Joris Veltman and colleagues apply exome sequencing to identify heterozygous de novo mutations in SETBP1 as the cause of Schinzel-Giedion syndrome, a rare sporadic disorder characterized by severe intellectual disability and multiple congenital malformations.
John Chambers and colleagues identify common variants at four loci associated with serum creatinine levels, a marker of kidney function. Their findings provide insight into the pathways underlying susceptibility to chronic kidney disease.
Andre Franke and colleagues report results of a genome-wide association and replication study of ulcerative colitis. They identify two new regions of association at 7q22 and at 22q13 in IL17REL.