Nature Genetics - Current issue : April 2013 - Vol 45 No 4
Latest highlights
Advance online publication
Genetics of juvenile idiopathic arthritis
Letter by Anne HinksAnne Hinks and colleagues identify 14 new susceptibility loci for juvenile idiopathic arthritis through targeted analyses of genomic regions implicated in immune function. Their study implicates several pathways, including IL-2 signaling, in the pathogenesis of this autoimmune disease.
Advance online publication
Microtubules and cortical development
Article by Karine PoirierJamel Chelly, Nicholas Cowan and colleagues report mutations in TUBG1, DYNC1H1, KIF2A and KIF5C in individuals with malformations of cortical development and microcephaly. Their findings emphasize the importance of centrosomal and microtubule-related proteins for normal brain development.
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Genetics of pulmonary fibrosis
Article by Tasha FingerlinTasha Fingerlin, David Schwartz and colleagues report a genome-wide association study of fibrotic idiopathic interstitial pneumonia. Their results confirm known risk variants at MUC5B and TERT and identify several new regions associated with disease susceptibility.
Advance online publication
Pediatric glioma genome sequencing
Article by Jinghui ZhangDavid Ellison and colleagues report whole-genome sequencing of pediatric low-grade gliomas, the most common pediatric brain tumor. They identify recurrent and mutually exclusive duplications of the FGFR1 region encoding the tyrosine kinase domain and rearrangements of MYB.
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Genetics of obesity
Letter by Eleanor WheelerSadaf Farooqi, Inês Barroso and colleagues report genome-wide SNP and CNV association analyses for severe obesity in children, selected at the extreme of the distribution for body mass index. They identify four loci newly associated with severe obesity, an enrichment of rare CNVs in severely obese cases and overlap between loci associated with severe obesity in children and loci associated with BMI and obesity in the general population.
Advance online publication
In independent reports, Willem Ouwehand, Cornelis Albers and colleagues and Björn Nilsson, Martin Olsson and colleagues show that homozygosity for a null allele of SMIM1 is responsible for the Vel– blood group phenotype.