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Richard Trembath, Peter Donnelly and colleagues report a genome-wide association study identifying six new psoriasis susceptibility loci. They also identify a statistical interaction between HLA-C and ERAP1 in psoriasis susceptibility.
Andre Franke and colleagues report a genome-wide association study for psoriasis vulgaris in a German cohort with replication in German and North American psoriasis cohorts. They identify variants in TRAF3IP2, encoding a protein involved in IL-17 mediated T-cell immune response, associated with psoriasis.
James Elder and colleagues report meta-analyses of two psoriasis genome-wide association studies with replication in additional cohorts. They make use of imputation using both the HapMap and initial 1000 Genomes Project datasets and identify three new psoriasis susceptibility loci.
Jun Wang and colleagues report the targeted capture and resequencing of the exomes of 200 Danish individuals at an average coverage of 12-fold. They identify an excess of low frequency non-synonymous variants that goes beyond previous predictions.
C Geoffrey Woods and colleagues used targeted capture followed by massively parallel sequencing to identify mutations in WDR62 in microcephaly. WDR62 associates with the spindle pole during mitosis, and mutant WDR62 proteins fail to localize to spindle poles in dividing neural progenitors.
Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the brain.
Christopher Walsh and colleagues used targeted high-throughput sequencing to identify mutations in WDR62 in human microcephaly. The authors report that WDR62 is a centrosomal protein.
Yataro Daigo and colleagues report a genome-wide association study for lung adenocarcinoma in Japanese and Korean populations, identifying a susceptibility locus at TP63.
Pierre Coulombe and colleagues show that ablation of keratin 17 in mice delays the initiation of skin tumors driven by constitutive Hedgehog signaling. Mice lacking keratin 17 show reduced skin inflammation and an altered cytokine profile, suggesting an immunomodulatory role in regulating Hedgehog-driven skin tumorigenesis.
Simon Gayther and colleagues report a genome wide association study for ovarian cancer. They identify two new susceptibility loci at 2q31 and 8q24 and two suggestive susceptibility loci at 3q25 and 17q21.
Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.
Paul Pharoah and colleagues report a genome-wide association study for survival time after diagnosis of epithelial ovarian cancer and a parallel analysis of susceptibility to epithelial ovarian cancer. They identified two SNPs at 19p13.11 that associated with susceptibility to the serous subtype of epithelial ovarian cancer.
Christopher Hammond and colleagues report a genome-wide association study for myopia and refractive error, identifying a susceptibility locus at 15q25.
Gudmar Thorleifsson and colleagues report a genome-wide association study for primary open angle glaucoma, identifying a susceptibility locus near CAV1 and CAV2.
Caroline Klaver and colleagues report a genome-wide association study for myopia and refractive error in the general population, identifying a susceptibility locus at 15q14.
Alec Jeffreys and colleagues report that variation at PRDM9 in humans influences sperm recombination hotspot activity, independent of a consensus binding motif, as well as meiotic genome instability.
Toshimasa Yamauchi and colleagues report results of a genome-wide association study of type 2 diabetes in the Japanese population. They identify new risk loci at UBE2E2 and C2CD4A-C2CD4B and show that the latter is also associated with type 2 diabetes risk in Europeans.
Arno Palotie, Verneri Anttila and colleagues report a genome-wide association study of migraine. They identify a variant on chromosome 8q22.1 associated with risk of migraine.