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Stanislas Lyonnet and colleagues report a new locus associated with Pierre Robin sequence, an important subgroup of cleft palate. They find that translocations, deletions and point mutation affecting highly conserved noncoding elements (HCNEs) found at distances on either side of SOX9 are associated with PRS.
Wei Zheng and colleagues carried out a genome-wide association study of breast cancer in Chinese women and discovered risk variants on 6q25.1 located upstream of the gene encoding estrogen receptor 1 (ESR1). They also found a similar association between the 6q25.1 locus and breast cancer in samples of European ancestry.
Manel Esteller and colleagues report truncating mutations in TARBP2, an integral component of a DICER1-containing complex, in human colorectal cancers. This is the first report of a mutation in one of the genes involved in miRNA processing in human cancer.
Christopher Newton-Cheh and colleagues report the identification of common variants at the NPPA-NPPB locus associated with plasma atrial natriuretic peptide concentration, as well as with lower systolic and diastolic blood pressure, and reduced risk of hypertension.
Toshihiro Tanaka and colleagues report the identification of variants in BRAP, which encodes a galectin-2–binding protein, that are associated with risk of myocardial infarction in two Asian populations.
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.
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.
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.
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.
Henrique Teotónio and colleagues report a comprehensive study of the molecular population genetics of adaptation and reverse evolution in Drosophila. They conclude that adaptive reverse evolution in this context tends to occur from the sorting and recombination of standing genetic variation at multiple loci, rather than from the fixation of new mutations.
Frank Rutsch and colleagues show that the cblF inborn error of vitamin B12 metabolism, which is characterized by accumulation of free vitamin B12 in lysosomes, is caused by mutations in the gene encoding the lysosomal membrane protein LMBD1. These findings suggest a critical function for LMBD1 in exporting cobalamin from lysosomes.
Steve Younkin and colleagues report the results of a genome-wide association study for late-onset Alzheimer's disease. A variant on the X chromosome in PCDH11X is associated with increased risk of the disorder. PCDH11X encodes a protocadherin and is a member of a cell surface receptor molecule family.