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Christian Abnet and colleagues report genome-wide association studies for gastric adenocarcinoma and esophageal squamous cell carcinoma in a Chinese population. They identified a new shared risk locus in the PLCE1 gene at 10q23.
Len Pennacchio and colleagues used ChIP-Seq with the enhancer-associated protein p300 to identify 3,000 candidate cardiac transcriptional enhancers in embryonic mice at E11.5. Notably, most candidate heart enhancers at this time point are not deeply evolutionarily conserved.
Li Dong Wang and colleagues report a genome wide association study for esophageal squamous cell carcinoma in the Chinese population. They identify two risk loci at PLCE1 and C20orf54.
Yusuke Nakamura and colleagues report a genome-wide association study of keloid, a dermal fibroproliferative growth, in the Japanese population. Their work identifies common variants at four loci associated with susceptibility to keloid formation.
Jay Shendure and colleagues report exome sequencing of ten individuals with Kabuki syndrome. They identify mutations in MLL2, encoding a Trithorax-group histone methyltransferase, as causal for this rare autosomal dominant malformation disorder.
Mehdi Tafti and colleagues identify new HLA class II haplotypes that are strongly protective against narcolepsy. Their analyses suggest a virtually causal role for the HLA region in determining narcolepsy susceptibility.
Haydeh Payami and colleagues report results of a genome-wide association study for Parkinson's disease. They identify common variants in the HLA region associated with the late-onset sporadic form of the disease and replicate published associations with SNCA, MAPT and GAK.
Charlotte Niemeyer, Mignon Loh and colleagues report that germline mutations at CBL are associated with developmental abnormalities and predispose individuals to juvenile myelomonocytic leukemia.
Sonia Davila and colleagues report a genome-wide association study for meningococcal disease. They identify variants in the CFH region associated with susceptibility to meningococcal disease.
Lennart Hammarström, Tim Behrens and colleagues report the results of a genome wide association study of selective immunoglobulin A deficiency, the most common form of primary immunodeficiency in humans. They validated previously known HLA haplotype associations and identified a new risk variant in IFIH1.
Hidewaki Nakagawa and colleagues report a genome-wide association study for prostate cancer in a Japanese population. They replicate previously associated loci and identify five new susceptibility loci.
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.
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.
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.