August 2010 Volume 42 Number 8, pp 639 - 727
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EDITORIAL
----------------------
Basin of attraction p639
doi:10.1038/ng0810-639
A group of medical geneticists from the countries bordering the
Mediterranean Sea are seeking support for an enduring cooperative
research structure. Their research productivity and ability to
collaborate are both proven. The expected value of the proposed
organization is high.
http://links.ealert.nature.com/ctt?kn=75&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
COMMENTARY
----------------------
Collaborative genomics for human health and cooperation in the
Mediterranean region pp641 - 645
Tayfun Ozcelik et al.
doi:10.1038/ng0810-641
Abstract: http://links.ealert.nature.com/ctt?kn=7&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=83&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
NEWS AND VIEWS
----------------------
On the origin of prostate fusion oncogenes pp647 - 648
Jiri Bartek, Petra Hamerlik and Jiri Lukas
doi:10.1038/ng0810-647
A new study reports that androgen signaling induces DNA double-strand
breaks and TMPRSS2-ERG rearrangements through androgen receptor-
mediated recruitment of topoisomerase 2B. These findings shed light
on the generation of the most common fusion oncogene in human cancer.
http://links.ealert.nature.com/ctt?kn=78&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Variation across the allele frequency spectrum pp648 - 650
Anna L Gloyn and Mark I McCarthy
doi:10.1038/ng0810-648
A new study finds that individuals with high plasma triglyceride
levels carry approximately twice as many rare, coding genetic
variants within four candidate genes identified through genome-wide
association studies than individuals without these high levels. This
study demonstrates the overlap of rare and common variant signals at
loci associated with lipid levels and shows the value of efforts to
extend susceptibility variant discovery to embrace the full allele-
frequency spectrum.
http://links.ealert.nature.com/ctt?kn=87&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Preempting and preventing drug-induced liver injury pp650 - 651
Guruprasad P Aithal and Ann K Daly
doi:10.1038/ng0810-650
A new study reports that susceptibility to drug-induced liver injury
by the cyclooxygenase 2 (COX-2) inhibitor lumiracoxib is associated
with a human lymphocyte antigen (HLA) class II haplotype. This finding
suggests that those at risk of hepatotoxicity can be identified by HLA
genotyping, raising the possibility that lumiracoxib can be
resurrected as a useful drug.
http://links.ealert.nature.com/ctt?kn=95&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
RESEARCH HIGHLIGHTS
----------------------
Research highlights p653
doi:10.1038/ng0810-653
http://links.ealert.nature.com/ctt?kn=86&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
BRIEF COMMUNICATIONS
----------------------
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with
primary biliary cirrhosis pp655 - 657
Gideon M Hirschfield et al.
doi:10.1038/ng.631
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.
Abstract: http://links.ealert.nature.com/ctt?kn=3&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=85&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Genome-wide meta-analyses identify three loci associated with primary
biliary cirrhosis pp658 - 660
Xiangdong Liu et al.
doi:10.1038/ng.627
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.
Abstract: http://links.ealert.nature.com/ctt?kn=5&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=68&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Genome-wide association study of follicular lymphoma identifies a
risk locus at 6p21.32 pp661 - 664
Lucia Conde et al.
doi:10.1038/ng.626
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.
Abstract: http://links.ealert.nature.com/ctt?kn=1&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=114&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Somatic mutations of the histone methyltransferase gene EZH2 in
myelodysplastic syndromes pp665 - 667
Gorica Nikoloski et al.
doi:10.1038/ng.620
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.
Abstract: http://links.ealert.nature.com/ctt?kn=2&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=107&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
ARTICLES
----------------------
Androgen-induced TOP2B-mediated double-strand breaks and prostate
cancer gene rearrangements pp668 - 675
Michael C Haffner et al.
doi:10.1038/ng.613
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.
Abstract: http://links.ealert.nature.com/ctt?kn=30&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=89&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Matriptase initiates activation of epidermal pro-kallikrein and
disease onset in a mouse model of Netherton syndrome pp676 - 683
Katiuchia Uzzun Sales et al.
doi:10.1038/ng.629
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.
Abstract: http://links.ealert.nature.com/ctt?kn=29&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=97&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
LETTERS
----------------------
Excess of rare variants in genes identified by genome-wide
association study of hypertriglyceridemia pp684 - 687
Christopher T Johansen et al.
doi:10.1038/ng.628
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.
Abstract: http://links.ealert.nature.com/ctt?kn=32&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=93&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Genome-wide association study identifies a susceptibility locus at
21q21 for ventricular fibrillation in acute myocardial infarction
pp688 - 691
Connie R Bezzina et al.
doi:10.1038/ng.623
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.
Abstract: http://links.ealert.nature.com/ctt?kn=31&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=46&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Genome-wide association study identifies a sequence variant within
the DAB2IP gene conferring susceptibility to abdominal aortic
aneurysm pp692 - 697
Solveig Gretarsdottir et al.
doi:10.1038/ng.622
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.
Abstract: http://links.ealert.nature.com/ctt?kn=25&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=37&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Genome-wide association study identifies variants in the MHC class I,
IL10, and IL23R-IL12RB2 regions associated with Behcet's disease
pp698 - 702
Elaine F Remmers et al.
doi:10.1038/ng.625
Elaine Remmers and colleagues report a genome-wide association study
for Behcet's Disease in a Turkish population. They identify
associations in the Class I region of the MHC, IL10 and IL23R-IL12RB2.
Abstract: http://links.ealert.nature.com/ctt?kn=26&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=36&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as
Behcet's disease susceptibility loci pp703 - 706
Nobuhisa Mizuki et al.
doi:10.1038/ng.624
Nobuhisa Mizuki and colleagues report a genome-wide association study
for Behcet's disease, a chronic systemic inflammatory disorder, in a
Japanese population. They identify variants at IL23R-IL12RB2 and
IL10 associated with Behcet's disease.
Abstract: http://links.ealert.nature.com/ctt?kn=27&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=58&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
A genome-wide association study identifies genetic variants in the
CDKN2BAS locus associated with endometriosis in Japanese
pp707 - 710
Satoko Uno et al.
doi:10.1038/ng.612
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.
Abstract: http://links.ealert.nature.com/ctt?kn=20&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=63&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
A genome-wide study identifies HLA alleles associated with
lumiracoxib-related liver injury pp711 - 714
Jonathan B Singer et al.
doi:10.1038/ng.632
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.
Abstract: http://links.ealert.nature.com/ctt?kn=21&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=91&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Subtype-specific genomic alterations define new targets for soft-
tissue sarcoma therapy pp715 - 721
Jordi Barretina et al.
doi:10.1038/ng.619
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.
Abstract: http://links.ealert.nature.com/ctt?kn=22&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=56&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Inactivating mutations of the histone methyltransferase gene EZH2 in
myeloid disorders pp722 - 726
Thomas Ernst et al.
doi:10.1038/ng.621
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.
Abstract: http://links.ealert.nature.com/ctt?kn=23&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=13&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
----------------------
ERRATUM
----------------------
Erratum: A genome-wide association study of cleft lip with and
without cleft palate identifies risk variants near MAFB and
ABCA4 p727
Terri H Beaty et al.
doi:10.1038/ng0810-727
http://links.ealert.nature.com/ctt?kn=11&m=35648041&r=MTc2NTYxNjY4OQS2&b=2&j=Nzg2NDEwMTkS1&mt=1&rt=0
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