Brief Communications in 2008

Unnur Styrkarsdottir and Kari Stefansson and colleagues report the results of an expanded genome-wide association study for bone mineral density at the hip or the spine. New SNP associations were identified downstream of the SOST gene on 17q21, and in intron 1 of the MARK3 gene on 14q32.

Rogier Hintzen and colleagues report the results of a search for genetic variants associated with susceptibility to multiple sclerosis in a genetically isolated population that lead to identification of a new susceptibility locus in the region of the KIF1B gene on chromosome 1.

Stefan Mundlos and colleagues report the identification of mutations in SCYL1BP1 in families with gerodermia osteodysplastica, a disorder characterized by wrinkly skin and osteoporosis. SCYL1BP1 localizes to the Golgi apparatus and interacts with Rab6.

Richard Houlston and colleagues report a genome-wide association study for lung cancer susceptibility. In addition to confirming a previous association at 15q25.1, they identify and replicate two new risk loci at 6p21.33 and 5p15.33.

Paul Brennan and colleagues report a genome-wide association study for lung cancer susceptibility. In addition to a previously reported variant at 15q25, they detect and replicate a new association at 5p15.33.

Jason Cooper and colleagues identify four new risk loci for type 1 diabetes through a meta-analysis of data from three genome-wide association studies, with replication in additional case-control and family-based samples, providing further insights into the genetic risk factors underlying this disease.

Benjamin Blencowe and colleagues report the application of next-generation sequencing technology to alternative splicing in the human genome. They detect alternative splicing events in 85% of multiexon genes, and conclude that there are approximately 100,000 such events in major human tissues.

Stanislav Kmoch and colleagues identify mutations in TMEM70 in individuals with isolated mitochondrial ATP synthase deficiency, and demonstrate that complementation of cell lines of affected individuals with wild-type TMEM70 restores ATP synthase function.

Tim Spector and colleagues report a genome-wide association study for androgenic alopecia, or male-pattern baldness. They confirm a previous association with the gene encoding the androgen receptor, and identify a new association at chromosome 20p11.22, between the PAX1 and FOXA2 genes.

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.