Details

Autor(en) / Beteiligte

• Nahed, Brian V.
• Seker, Askin
• Guclu, Bulent
• Ozturk, Ali K.
• Finberg, Karin
• Hawkins, Abigail A.
• DiLuna, Michael L.
• State, Matthew
• Lifton, Richard P.
• Gunel, Murat

Titel

Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13

Ist Teil von

• American journal of human genetics, 2005-01, Vol.76 (1), p.172-179

Ort / Verlag

Chicago, IL: Elsevier Inc

Erscheinungsjahr

2005

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogenesis of these aneurysms is largely unknown, although genetic and environmental factors are believed to play a role. Previous genomewide studies in affected relative pairs have suggested linkage to several loci, but underlying genes have not been identified. We have identified a large kindred that segregates nonsyndromic intracranial aneurysm as a dominant trait with high penetrance. Genomewide analysis of linkage was performed using a two-stage approach: an analysis of ∼10,000 single-nucleotide polymorphisms in the 6 living affected subjects, followed by the genotyping of simple tandem repeats across resulting candidate intervals in all 23 kindred members. Analysis revealed significant linkage to a single locus, with a LOD score of 4.2 at 1p34.3-p36.13 under a dominant model with high penetrance. These findings identify a Mendelian form of intracranial aneurysm and map the location of the underlying disease locus.