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Axel Hillmer and colleagues present a genome-wide association study for male-pattern baldness. They confirm a previous association with the gene encoding the androgen receptor, and report replicated associations for five SNPs on chromosome 20p11.
Shomi Bhattacharya and colleagues report the identification of six independent mutations in an ortholog of Drosophila eys in families with autosomal recessive retinitis pigmentosa from diverse ancestral origins. A phylogenetic analysis of this gene, which spans more than 2 Mb, suggests that it has a role in the modeling of retinal architecture.
Jane Worthington and colleagues report that three SNPs, located on chromosomes 10p15, 12q13 and 22q13, are associated with susceptibility to rheumatoid arthritis. These SNPs had previously been putatively associated with rheumatoid arthritis in the genome-wide association study conducted by the Wellcome Trust Case Control Consortium.
David Hunter and colleagues report the discovery of associations between variants in FUT2 and plasma vitamin B12 levels. FUT2 encodes α,1,2-fucosyltransferase and is the classic human secretor locus that determines the secretion status of ABO blood group antigens.
William Isaacs and colleagues report evidence for a second prostate cancer risk locus in the HNF1B gene at 17q12, ∼26 kb from the previously reported risk locus in this region. The two loci are separated by a recombination hot spot and contribute independently to prostate cancer risk.
Andreas Janecke and colleagues identify mutations in MYO5B, encoding the type Vb myosin motor protein, in individuals with microvillus inclusion disease, implicating myosin Vb as a key regulator of epithelial cell polarity.
Pamela Sklar and colleagues report a genome-wide association study of bipolar disorder and identify variants in the genes encoding ankyrin-3 and the alpha-1C subunit of the L-type voltage-gated calcium channel as increasing risk.
Kerstin Kutsche and colleagues report that mutations in CASK cause an X-linked brain malformation marked by microcephaly and hypoplasia of the brainstem and cerebellum. CASK encodes a scaffolding protein that is thought to play important roles in neuronal development and synaptic trafficking.
Patrick Gaffney and colleagues report results of a genome-wide association study for systemic lupus erythematosus (SLE), identifying variants in the TNFAIP3 region on 6q23 that are strongly associated with the disease. In a related study, Lindsey Criswell and colleagues report a similar association between variants near TNFAIP3 and SLE. The same region on 6q23 has recently been associated with rheumatoid arthritis, but only a subset of risk alleles in this region seem to be common to both diseases.
Lindsey Criswell and colleagues report an association between three independent variants near TNFAIP3 and systemic lupus erythematosus (SLE). In a related study, Patrick Gaffney and colleagues report results of a genome-wide association study for SLE, also identifying variants in the TNFAIP3 region on 6q23 that are strongly associated with the disease. The same region on 6q23 has recently been associated with rheumatoid arthritis, but only a subset of risk alleles in this region seem to be common to both diseases.
Michael O'Donovan and colleagues present a genome-wide association study of schizophrenia in 479 cases and 2,937 controls, followed by replication in several cohorts. They report evidence for association for a susceptibility allele near ZNF804A.
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.