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Juliane Winkelmann and colleagues report that two common variants in the 5′ UTR of PTPRD are independently associated with restless legs syndrome. PTPRD encodes a receptor-like protein tyrosine phosphatase previously implicated in axon guidance and motor neuron development.
Deborah Mackay and colleagues identify mutations in ZFP57, encoding a zinc-finger transcription factor, in families with transient neonatal diabetes and additional clinical features. Affected individuals have a variable pattern of DNA hypomethylation at multiple imprinted loci.
Philippe Froguel and colleagues report that common nonsynonymous variants in PCSK1, encoding a prohormone convertase, confer risk of obesity in individuals of European ancestry.
Theodore Kurtz and colleagues report that Cd36 expression in the kidney underlies a quantitative trait locus for essential hypertension in the rat. Cd36 affects levels of cyclic GMP, a downstream effector of nitric oxide signaling, consistent with published data that reduced nitric oxide activity in the kidney is associated with hypertension.
Tushar Bhangale, Mark Reider, and Deborah Nickerson report estimates of coverage and power by commercial genotyping arrays using a variation dataset for 76 genes resequenced as part of the SeattleSNPs program.
Sulem et al. report two previously unknown loci associated with variation in pigmentation in Northern Europeans. In two separate studies, Brown et al. and Gudbjartsson et al. report that some variants affecting human pigmentation, including variants on 20q11.22 near ASIP, also confer risk of cutaneous melanoma and basal cell carcinoma.
Brown et al. report results of a genome-wide association study for melanoma. Their screen, which used a pooling strategy, identified common variants on 20q11.22 associated with melanoma susceptibility. In two separate studies, Sulem et al. and Gudbjartsson et al. report that the same region on 20q11.22, near ASIP, influences pigmentation and confers risk of cutaneous melanoma and basal cell carcinoma.