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Jonathan Sebat and colleagues report the association of microduplication on chromosome 16p11.2 with schizophrenia, while the reciprocal microdeletion was associated with autism and developmental disorders.
Robert Graham and colleagues report results of a large-scale replication study for systemic lupus erythematosus (SLE) in individuals of European ancestry. Their findings expand the number of confirmed SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.
Xuejun Zhang and colleagues report results of a genome-wide association study of systemic lupus erythematosus (SLE) in a Chinese Han population. Their work identifies nine new SLE susceptibility loci and reveals overlap in the spectrum of risk alleles shared between Chinese Han and European populations.
Charles Mullighan and colleagues report a recurrent rearrangement of CRLF2 in B-progenitor and Down syndrome-associated acute lymphoblastic leukemia. Their genetic and functional evidence indicates that CRLF2 cooperates with activated JAK2 to promote leukemogenesis.
Kevin Jacobs and colleagues report a new test statistic for detection of membership of an individual within a genome-wide association study, based on reporting of study genotype frequencies.
Matthew Meyerson and colleagues report that SOX2, which encodes a transcription factor necessary for normal esophageal development, is an amplified lineage survival oncogene in lung and esophageal squamous cell carcinomas.
Rosalind Eeles and colleagues present a genome-wide association study for prostate cancer. They report seven loci newly associated with prostate cancer susceptibility.
Julius Gudmundsson and colleagues report a prostate cancer genome-wide association follow-on study. They report variants at 3q21.3, 8q24.21 and 19q13.2 newly associated to prostate cancer susceptibility and the fine-mapping of the association signal at 11q13.
David Bilder and colleagues report that the Polycomb repressive complex 1 acts as a tumor suppressor in the Drosophila eye imaginal disc and that this function is mediated by repression of the JAK-STAT signaling pathway.
Jacob George and colleagues report a genome-wide association study to hepatitis C treatment response. They report an association of common variants within the IL28B region to sustained virologic response following pegylated interferon alpha and ribavirin combined therapy in individuals with genotype 1 chronic hepatitis C.
Masashi Mizokami and colleagues report a genome-wide association study to hepatitis C treatment response in two Japanese cohorts. They report common variants at IL28B associated with sustained as well as null virologic response following pegylated interferon-alpha and ribavirin combined therapy.
Philippe Amouyel and colleagues report a genome-wide association study for Alzheimer's disease. They identify variants within CLU and CR1 associated with susceptibility to late-onset Alzheimer's disease.
Rob Sladek and colleagues identify a common variant near the insulin receptor substrate 1 gene (IRS1) associated with type 2 diabetes, insulin resistance, hyperinsulinemia and impaired insulin signaling. This is the first confirmed diabetes risk locus associated with insulin resistance.
Julie Williams and colleagues report a genome-wide association study for Alzheimer's disease. They identify variants at the CLU and PICALM loci associated with susceptibility to late-onset Alzheimer's disease.
Leonard van den Berg, Roel Ophoff and colleagues present a genome-wide association study of sporadic amyotrophic lateral sclerosis. The work uncovers associated SNPs at 9p21.2 and an associated locus at 19p13.3 mapping to the UNC13A gene.
K. Lenhard Rudolph and colleagues report that conditional p53 deletion in the intestinal epithelium of aging mice impaired the depletion of chromosomal-instable stem cells and shortened the lifespan of telomere-dysfunctional mice without inducing tumor formation.
Eric Brown and colleagues report the mosaic deletion of ATR combined with loss of p53 led to accumulation of highly damaged cells and severe defects in tissue regeneration in adult mice.
Yardena Samuels and colleagues report a mutational analysis of the protein tyrosine kinase family in cutaneous metastatic melanoma. They find ERBB4 mutations in 19% of tumors and show that these mutations enhance ERBB4 kinase activity and transformation ability, identifying ERBB4 as a potential drug target in melanomas carrying these mutations.
Linda Wicker and colleagues examine the effect of SNPs in the IL2RA region, previously associated to type 1 diabetes, on CD25 protein expression on the cell surface of primary immune cells from donors within the Cambridge BioResource. They demonstrate the value of using fresh primary cells from a large bioresource of genotype-selectable healthy volunteers.