Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm

Farnham, James M.; Camp, Nicola J.; Neuhausen, Susan L.; Tsuruda, Jay S.; Parker, Dennis L.; MacDonald, Joel D.; Cannon‐Albright, Lisa A.

doi:10.1007/s00439-003-1044-z

Cited by 60 publications

(44 citation statements)

References 33 publications

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“…Collectively, candidate regions that have to date been replicated in Ͼ1 study include 7q11 (Onda et al and Farnham et al) and 19q13 (Olson et al and Van Der Voet et al). [3][4][5]7 The regions of 17cen (Onda et al 3 ) and Xp22 (Olson et al 4 ) are extended in the present study. Such concordant regions should be considered as high-priority loci and provide promising scaffolds for future studies to identify the exact genetic mechanisms for IA.…”

Section: Discussion Linkage Analysissupporting

confidence: 66%

“…3,4 Onda et al 3 suggested linkage to regions on chromosomes 5q22-31 (maximum LOD score [MLS] 2.24), 7q11 (MLS 3.22), and 14q22 (MLS 2.31) in 104 Japanese affected sibling pairs. The linkage to 7q11 was replicated by another study in a white population, 5 although we could not confirm the linkage to this locus in Japanese. 6 Olson et al 4 found suggestive linkages on chromosomes 19q12-13 (MLS 2.58) and Xp22 (MLS 2.08) in 48 Finnish affected sibling pairs, a linkage confirmed by another study.…”

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confidence: 84%

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Genome-Wide Scan for Japanese Familial Intracranial Aneurysms

et al. 2004

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Background— Genetic factors have an important role in the pathogenesis of intracranial aneurysm (IA). The results of previous studies have suggested several loci. Methods and Results— From 29 IA families with ≥3 individuals affected by IA, we used nonparametric (model-free) methods for linkage analyses, using GENEHUNTER and Merlin software. Genome-wide linkage analyses revealed 3 regions on chromosomes 17cen (maximum nonparametric logarithm of the odds score [MNS] = 3.00, nominal P =0.001), 19q13 (MNS=2.15, nominal P =0.020), and Xp22 (MNS=2.16, nominal P =0.019). We tested 4 candidate genes in these regions: the microfibril-associated protein 4 gene ( MFAP4 ) and the promoter polymorphism of the inducible nitric oxide synthase gene ( NOS2A ) on chromosome 17cen, the epsilon genotypes of the apolipoprotein E gene ( APOE ) on chromosome 19q13, and the angiotensin I converting enzyme 2 gene ( ACE2 ) on chromosome Xp22. Associations of their polymorphisms with IA were evaluated by a case-control study (100 cases: 29 probands from IA families and 71 unrelated subjects with IAs, 100 unrelated control subjects [unaffected members with IAs and absence of family history of IAs]). However, the case-control study showed that none of the polymorphisms of the examined genes had associations with IA. Conclusions— A genome-wide scan in 29 Japanese families with a high degree of familial clustering revealed 1 suggestive linkage region on chromosome 17cen and 2 potentially interesting regions on chromosomes 19q13 and Xp22. These regions were consistent with previous findings in various populations.

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Section: Discussion Linkage Analysissupporting

confidence: 66%

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confidence: 84%

Genome-Wide Scan for Japanese Familial Intracranial Aneurysms

et al. 2004

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“…Further studies comprising larger sample sizes are undoubtedly needed, as multiple interacting genes and environmental factors contribute to the phenotype. Two regions that were confirmed in both samples of Japanese and white patients are on chromosome 7q (Onda et al 2001;Olson et al 2002) and 19q (Farnham et al 2004;Yamada et al 2004) (see Fig. 2).…”

Section: Chromosomal Loci Mapped By Linkage Studiesmentioning

confidence: 62%

The genetics of intracranial aneurysms

Krischek

Inoue

2006

J Hum Genet

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The rupture of an intracranial aneurysm (IA) leads to a subarachnoid hemorrhage, a sudden onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension and excessive alcohol intake are associated with subarachnoid hemorrhage. IAs, ruptured or unruptured, can be treated either surgically via a craniotomy (through an opening in the skull) or endovascularly by placing coils through a catheter in the femoral artery. Even though the etiology of IA formation is mostly unknown, several studies support a certain role of genetic factors. In reports so far, genome-wide linkage studies suggest several susceptibility loci that may contain one or more predisposing genes. Studies of several candidate genes report association with IAs. To date, no single gene has been identified as responsible for IA formation or rupture. The identification of susceptible genes may lead to the understanding of the mechanism of formation and rupture and possibly lead to the development of a pharmacological therapy.

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“…The LIMK1 gene is located on chromosome 7q11, in which the presence of a susceptible gene for IA was indicated by linkage studies of two different ethnic groups. 22,23 Akagawa et al 24 illustrated that SNPs in ELN and LIMK1 at chromosome 7q11 might exert the synergistic effect on development of IA by affecting the stability and synthesis of vascular walls by sharing elastin signaling pathway. However, our result failed to find association with genetic variations in the ELN gene with IA, in agreement with several other studies, 25,26 suggesting that the LIMK1 gene is more likely candidate for the IA susceptibility gene at this chromosomal region.…”

Section: Discussionmentioning

confidence: 99%

Impact of LIMK1, MMP2 and TNF-α variations for intracranial aneurysm in Japanese population

et al. 2011

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Genetic factors are known to have an important role in intracranial aneurysm (IA) pathogenesis. The purpose of this study is to identify single-nucleotide polymorphisms (SNPs) that are associated with IA in Japanese population. A total of 2050 IA patients and 1835 controls recruited in Biobank Japan, The University of Tokyo were used in this study. In all, 45 SNPs in 24 genes encoding proteins, which have been considered to be possible risk factors to IA pathogenesis, were genotyped using multiplex PCR-invader assay. Association analysis was evaluated by logistic regression analysis before and after adjustment of age, smoking and hypertension status. This case-control association study revealed a SNP, rs6460071 located on LIMK1 gene (P¼0.00069) to be significantly associated with increased risk of IA. In addition, two SNPs, rs243847 (P¼0.00086) and rs243865 (P¼0.00090), on matrix metallopeptidase 2 (MMP2) gene and one SNP rs1799724 (P¼0.0026) on tumor necrosis factor-a (TNF-a) gene, are marginally associated with IA in male-and female-specific manner, respectively. In conclusion, a large-scale case-control association study was conducted to verify genetic variations associated with IA in Japanese population. This study gave insights on the importance of stratified analysis between genders, and suggested that the underlying mechanism of IA pathogenesis might differ between females and males.

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Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm

Cited by 60 publications

References 33 publications

Genome-Wide Scan for Japanese Familial Intracranial Aneurysms

Genome-Wide Scan for Japanese Familial Intracranial Aneurysms

The genetics of intracranial aneurysms

Impact of LIMK1, MMP2 and TNF-α variations for intracranial aneurysm in Japanese population

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