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Daniel Gudbjartsson and colleagues report results of a genome-wide association study for loci influencing eosinophil counts. Follow-up studies showed that a subset of the variants identified in this screen were associated with risk of asthma or myocardial infarction.
The Myocardial Infarction Genetics Consortium reports results of a genome-wide association study of early-onset myocardial infarction. The study analyzed common SNPs, common CNVs and rare CNVs and identified SNP alleles at three new loci associated with disease risk.
Julius Gudmundsson and colleagues report the association of two SNPs on chromosomes 9 and 14 with thyroid cancer in European populations. The variants are near FOXE1 and NKX2-1, both good biological candidates, and individuals who are homozygous for both risk variants have a 5.7-fold greater risk of thyroid cancer.
Kari Stefansson and colleagues report association of a variant in LINGO1 with risk of essential tremor, a common progressive neurological disease. Mice lacking Lingo1 have impaired axonal integrity, which may be relevant to the pathophysiology of the human disease.
Laurie Ozelius and colleagues identify mutations in THAP1 in families with a mixed type (DYT6) of primary torsion dystonia, a movement disorder characterized by twisting movements and abnormal posture.
Julie Ahringer and colleagues show that, in C. elegans, exons are preferentially marked with H3K36me3 relative to introns, and that the difference in H3K36me3 marking between exons and introns is evolutionarily conserved in human and mouse.
Susan Lindquist and colleagues report a genetic interaction between α-synuclein and the ortholog of human ATP13A2 (PARK9) in yeast, two genes that when mutated cause Parkinson's disease. They further show that yeast PARK9 protects cells from manganese toxicity, a known environmental risk factor for Parkinson's disease.
Four teams of analysts attempted exact reproduction of results of 18 microarray experiments published in the journal in 2005–2006 using the data and analytical methods detailed in the original publications. In addition to MIAME criteria, the authors recommend publication of an explicit record of the analytical protocols used.
Ritsert Jansen and colleagues present an integrative analysis for genome-wide variation in transcript, protein and metabolite abundance in Arabidopsis, reporting six QTL hot spots with system-wide effects.
Xuejun Zhang and colleagues report a genome-wide association and replication studies for psoriasis, conducted in Chinese populations. They confirm previous associations in MHC and IL12B to psoriasis susceptibility, and report a new association within the LCE gene cluster at 1q21.
The Collaborative Association Study of Psoriasis, in partnership with the Genetic Association Information Network (GAIN), reports a genome-wide association study for psoriasis. They identify new replicated associations that highlight a role for the IL-23 and NF-κB pathways in psoriasis susceptibility.
Xavier Estivill and colleagues report that deletion of the late cornified envelope LCE3C and LCE3B genes increases susceptibility to psoriasis, possibly through compromised skin barrier function.
Kumarasamy Thangaraj and colleagues describe the association of a 25-bp deletion in MYBPC3 with heritable cardiomyopathies in Indian populations. They find a high prevalence (4–8%) of the deletion in surveyed Indian populations and an absence of the deletion in surveyed populations outside of Southeast Asia.
Andrew Feinberg and colleagues identify large chromatin domains marked by histone H3 lysine 9 dimethylation in human and mouse cells. These blocks show tissue specificity, and their appearance is correlated with differentiation status.
Arturas Petronis and colleagues present the first genome-wide study of interindividual differences in DNA methylation through genome-scale DNA methylation profiling in tissues from monozygotic and dizygotic twins. The data showed that dizygotic co-twins have higher degrees of epigenetic differences than monozygotic co-twins, which the authors attribute at least partially to epigenetic, as opposed to genetic, differences in the zygotes.
Philippe Froguel and colleauges present a genome-wide association study for early-onset and morbid adult obesity, reporting three new genetic associations to obesity.
Following a replicated genome-wide association study for basal cell carcinoma, Thorunn Rafnar and Patrick Sulem and colleagues have identified a locus associated with multiple cancers that contains the telomerase reverse transcriptase gene TERT and the CLPTM1L gene implicated in cisplatin-induced apoptosis.
Andy Feinberg and colleagues show in a colon cancer model that most DNA methylation alterations occur in sequence regions distinct from promoters or canonical CpG islands, termed 'CpG island shores', and that this methylation is strongly related to gene expression and can discriminate tissue types regardless of species of origin.
Matthew Farrer and colleagues report missense mutations in DCTN1, encoding dynactin, in eight families with Perry syndrome, a neurodegenerative disorder marked by early-onset parkinsonism, depression, severe weight loss and hypoventilation.
Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophrenia or other neuropsychiatric phenotypes, thus extending the phenotypic spectrum associated with 15q13.3 microdeletions.