Subarachnoid Hemorrhage

Kissela, Brett M.; Sauerbeck, Laura; Woo, Daniel; Khoury, Jane; Carrozzella, Janice; Pancioli, Arthur; Jauch, Edward C.; Moomaw, Charles J.; Shukla, Rakesh; Gebel, James; Fontaine, R; Broderick, Joseph P.

doi:10.1161/01.str.0000014773.57733.3e

Cited by 208 publications

(83 citation statements)

References 51 publications

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“…Most of the aneurysms were small: 2 IAs were ≥7 mm in maximal diameter; 19 were 4-6 mm; and 50 were 2-3 mm. Aneurysms arose most commonly on the ICA, with 31 such lesions (8 OphA, and 23 other ICA), followed in frequency by the MCA (20), PCoA (8), anterior cerebral artery (7), ACoA (3), and other locations (2).…”

Section: Resultsmentioning

confidence: 99%

“…Several uncommon heritable disorders are associated with brain aneurysms, including autosomal-dominant polycystic kidney disease, 3 Marfan syndrome, 17 Ehlers-Danlos syndrome Type IV, 4 hereditary hemorrhagic telangiectasia, 11 pseudoxanthoma elasticum, multiple endocrine neoplasia Type I, and neurofibromatosis Type 1. 16 Outside of these rare heritable disorders, population-based 8,18 and nonpopulationbased 10,[12][13][14] data suggest that there is an increased occurrence of IA and SAH in first-and second-degree relatives of those with SAH, with the highest risk being noted in siblings. Selected factors such as older age, female sex, history of hypertension, higher lipid levels, and elevated blood glucose have been suggested to increase the possibility of aneurysm detection in this setting.…”

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confidence: 99%

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Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Brown

Huston

Hornung

et al. 2008

JNS

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102

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Object-Approximately 20% of patients with an intracranial saccular aneurysm report a family history of intracranial aneurysm (IA) or subarachnoid hemorrhage. A better understanding of predictors of aneurysm detection in familial IA may allow more targeted aneurysm screening strategies. Methods-TheFamilial Intracranial Aneurysm (FIA) study is a multicenter study, in which the primary objective is to define the susceptibility genes related to the formation of IA. First-degree relatives (FDRs) of those affected with IA are offered screening with magnetic resonance (MR) angiography if they were previously unaffected, are ≥ 30 years of age, and have a history of smoking and/or hypertension. Independent predictors of aneurysm detection on MR angiography were determined using the generalized estimating equation version of logistic regression.Results-Among the first 303 patients screened with MR angiography, 58 (19.1%) had at least 1 IA, including 24% of women and 11.7% of men. Ten (17.2%) of 58 affected patients had multiple aneurysms. Independent predictors of aneurysm detection included female sex (odds ratio [OR] 2.46, p = 0.001), pack-years of cigarette smoking (OR 3.24 for 20 pack-years of cigarette smoking compared with never having smoked, p < 0.001), and duration of hypertension (OR 1.26 comparing those with 10 years of hypertension to those with no hypertension, p = 0.006).Conclusions-In the FIA study, among the affected patients' FDRs who are > 30 years of age, those who are women or who have a history of smoking or hypertension are at increased risk of suffering an IA and should be strongly considered for screening. To clarify further the occurrence of IA detection on brain MR angiography studies in families with several members affected, we report the initial results of MR angiography screening of FDRs-siblings, parents, and children-of those affected with an IA in a multicenter study of familial IA. We also report the predictors of IA detection on brain MR angiography among these FDRs. Clinical Materials and MethodsThe FIA study is an international, multicenter study including 26 clinical centers, which represents 41 recruitment sites in North America, New Zealand, and Australia. 2 The study was approved by the institutional review board/ethics committee at each of the study centers and recruitment sites.Families with multiple members in whom IAs were diagnosed were enrolled to identify the chromosomal regions associated with an increased risk of IA and to determine the effects of environmental factors on the expression of genes within these regions. Individuals with either ruptured or unruptured IAs were considered to have the phenotype. Patients were excluded if they had a fusiform IA; an intranidal aneurysm with an arteriovenous malformation; a family history of polycystic kidney disease, Ehlers-Danlos syndrome, Marfan syndrome, fibromuscular dysplasia, or moyamoya syndrome; or if informed consent could not be obtained from the patient or family members.Detailed medical records and the informa...

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Brown

Huston

Hornung

et al. 2008

JNS

Self Cite

102

View full text Add to dashboard Cite

show abstract

“…Environmental factors, such as cigarette smoking, hypertension and female gender, are known to be associated with IA. [3][4][5] Furthermore, several studies suggested an increased occurrence of IA and SAH in first-and second-degree relatives of SAH, with the incidence rate of 6-10%. [6][7][8][9] Several Mendelian disorders, such as autosomal-dominant polycystic kidney disease and Ehlers-Danlos syndrome type IV are associated with an increased risk of IA formation.…”

Section: Introductionmentioning

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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“…Inflammatory and immunological reactions were also thought to be related to IA formation and rupture. In addition to ambient factors, epidemiological studies have demonstrated a familial influence contributing toward the pathogenesis of IAs, with an increased frequency in first-and second-degree relatives of people with SAH (Kissela et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

Intracranial aneurysm risk factor genes: relationship with intracranial aneurysm risk in a Chinese Han population

et al. 2015

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ABSTRACT. Few studies have examined the genes related to risk factors that may contribute to intracranial aneurysms (IAs). This study in Chinese patients aimed to explore the relationship between IA and 28 gene loci, proven to be associated with risk factors for IA. We recruited 119 patients with aneurysms and 257 controls. Single factor and logistic regression models were used to analyze the association of IA and IA rupture with risk factors. Twenty-eight single nucleotide polymorphisms (SNPs) in 22 genes were genotyped for the patient and control groups. SNP genotypes and allele frequencies were analyzed by the chi-square test. Logistic regression analysis identified hypertension as a factor that increased IA risk (P = 1.0 x 10 -4 ; OR, 2.500; 95%CI, 1.573-3.972); IA was associated with two SNPs in the TSLC2A9 gene: rs7660895 (P = 0.007; OR, 1.541; 95%CI, 1.126-2.110); and in the TOX gene: rs11777927 (P = 0.013; OR, 1.511; 95%CI, 1.088-2.098). Subsequent removal of the influence of family relationship identified between 12 of 119 patients enhanced the significant association of these SNPs with IA (P = 0.001; OR, 1.691; 95%CI, 1.226-2.332; and P = 0.006; OR, 1.587; 95%CI, 1.137-2.213 for rs7660895 and rs11777927, respectively). Furthermore, the minor allele of rs7660895 (A) was also associated with IA rupture (P = 0.007; OR, 2.196; 95%CI,. Therefore, hypertension is an independent risk factor for IA. Importantly, the TSL-C2A9 (rs7660895) and TOX (rs11777927) gene polymorphisms may be associated with formation of IAs, and rs7660895 may be associated with IA rupture.

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Subarachnoid Hemorrhage

Cited by 208 publications

References 51 publications

Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

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

Intracranial aneurysm risk factor genes: relationship with intracranial aneurysm risk in a Chinese Han population

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