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Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11.

Abstract：

:Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, a devastating condition with high morbidity and mortality. Angiographic and autopsy studies show that IA is a common disorder, with a prevalence of 3%-6%. Although IA has a substantial genetic component, little attention has been given to the genetic determinants. We report here a genomewide linkage study of IA in 104 Japanese affected sib pairs in which positive evidence of linkage on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) were found. The best evidence of linkage is detected at D7S2472, in the vicinity of the elastin gene (ELN), a candidate gene for IA. Fourteen distinct single-nucleotide polymorphisms (SNPs) were identified in ELN, and no obvious allelic association between IA and each SNP was observed. The haplotype between the intron-20/intron-23 polymorphism of ELN is strongly associated with IA (P=3.81x10-6), and homozygous patients are at high risk (P=.002), with an odds ratio of 4.39. These findings suggest that a genetic locus for IA lies within or close to the ELN locus on chromosome 7.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Onda H,Kasuya H,Yoneyama T,Takakura K,Hori T,Takeda J,Nakajima T,Inoue I

doi

10.1086/323614

subject

Has Abstract

pub_date

2001-10-01 00:00:00

pages

804-19

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61136-7

journal_volume

69

pub_type

杂志文章

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