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Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13.

Abstract：

: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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Nahed BV,Seker A,Guclu B,Ozturk AK,Finberg K,Hawkins AA,DiLuna ML,State M,Lifton RP,Gunel M

doi

10.1086/426953

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

172-9

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62555-5

journal_volume

76

pub_type

杂志文章

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