Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
NEJM Studies Find New Carbamazepine Response Marker, Support Value of Genotyping in Han Chinese
The US Food and Drug Administration in 2007 updated the label for carbamazepine to recommend that patients of Asian ancestry taking the drug be tested for the HLA-B*1502 marker. While one NEJM study published this week supports this practice, a second study suggests that the boxed warning be expanded to include a new allele for the European population.
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