Press releases
Please quote Nature Genetics as the source of these items.
The December 2008 issue of Nature Genetics is available online.
December 2008
Risk variants for intracranial aneurysm
Scientists have identified two new genetic risk factors for intracranial aneurysm according to a study published online this week in Nature Genetics.
An intracranial aneurysm is a dilation of a blood vessel in the brain, which can lead to haemorrhage and stroke, the latter being the world's third leading cause of death. Richard Lifton and colleagues carried out a genome-wide association study of over 2,100 Finnish, Dutch and Japanese individuals who had such an aneurysm, as well as 8,000 controls. They identified three variants associated with increased risk, including variants on chromosomes 2 and 8 that are newly implicated.
The most likely candidate to explain the risk associated with the variant on chromosome 8 is the gene SOX17, which is known to be required for formation and maintenance of endothelial cells, which line blood vessels. SOX17 also has a role in the generation of stem cells that give rise to blood cell and endothelial lineages, and the authors suggest that intracranial aneurysm may result from defective stem cell-mediated vascular development and/or repair.
Susceptibility loci for intracranial aneurysm in European and Japanese populations
Kaya Bilguvar, Katsuhito Yasuno, Mika Niemelä, Ynte M Ruigrok, Mikael von und zu Fraunberg, Cornelia M van Duijn, Leonard H van den Berg, Shrikant Mane, Christopher E Mason, Murim Choi, Emília Gaál, Yasar Bayri, Luis Kolb, Zulfikar Arlier, Sudhakar Ravuri, Antti Ronkainen, Atsushi Tajima, Aki Laakso, Akira Hata, Hidetoshi Kasuya, Timo Koivisto, Jaakko Rinne, Juha Öhman, Monique M B Breteler, Cisca Wijmenga, Matthew W State, Gabriel J E Rinkel, Juha Hernesniemi, Juha E Jäskeläinen, Aarno Palotie, Ituro Inoue, Richard P Lifton & Murat Günel
Published online: 09 November 2008 | doi 10.1038/ng.240
Neuronal contribution to risk of multiple sclerosis
The first risk variant for multiple sclerosis in a gene expressed specifically in neurons has been identified, according to a study published online this week in Nature Genetics.
Multiple sclerosis is a complex autoimmune disease in which the immune system attacks and destroys the myelin sheath surrounding nerve fibres, resulting in neurodegeneration. Only a very small number of genetic variants have been shown to increase risk, and each is found in genes with functions in the immune system.
Rogier Hintzen and colleagues carried out a genome-wide association study of affected Dutch, Swedish and Canadian individuals, and report a variant in the gene KIF1B to be associated with susceptibility to the disease. KIF1B is enriched in motor neurons and is a member of a family of proteins involved in transport of cellular components along neuronal axons. This process has been implicated generally in neurodegenerative diseases, and the authors suggest that defective axonal transport may contribute to the pathogenesis of multiple sclerosis as well.
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
Yurii S Aulchenko, Ilse A Hoppenbrouwers, Sreeram V Ramagopalan, Linda Broer, Naghmeh Jafari, Jan Hillert, Jenny Link, Wangko Lundström, Eva Greiner, A Dessa Sadovnick, Dirk Goossens, Christine Van Broeckhoven, Jurgen Del-Favero, George C Ebers, Ben A Oostra, Cornelia M van Duijn & Rogier Q Hintzen
Published online: 09 November 2008 | doi 10.1038/ng.251
