Meta-analysis of whole-genome linkage scans for intracranial aneurysm

Biroš, Erik; Golledge, Jonathan

doi:10.1016/j.neulet.2007.11.014

Cited by 15 publications

(9 citation statements)

References 22 publications

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“…Similarly, other candidates related to smooth muscle contractility and function have been identified in individuals with familial TAAs13,19 and therefore might be plausible candidates in the broader phenotype. We did not find evidence of linkage to these loci in the current analysis nor was there evidence of linkage in the genomewide linkage analysis of the FIA population overall5 or in a recent meta-analysis of other genomewide linkage studies in IA17 supporting heterogeneity in genetic determinants of these complex disorders. Further specific investigations into these candidate genes may be warranted in this population.…”

Section: Discussioncontrasting

confidence: 68%

“…It is approximately 10 Mbp from Vaughan et al (117 Mbp to 120 Mbp); however, key recombinants resulted in a very narrow confidence interval (1.1 cM). This same region was associated with the IA phenotype in a meta-analysis with a probability value of 0.012 17. As outlined in a recent analysis of loci identified in IA, AAA, and TAA, the 11q24 locus is a relatively large block with many genes, none of which are currently implicated in disease pathophysiology 12.…”

Section: Discussionmentioning

confidence: 82%

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Genome Screen to Detect Linkage to Common Susceptibility Genes for Intracranial and Aortic Aneurysms

Worrall

Foroud

Brown

et al. 2009

Stroke

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Background and Purpose-Risk for both intracranial aneurysms (IAs) and aortic aneurysms (AAs) is thought to be heritable with mounting evidence for genetic predisposition. The concept of shared risk for these conditions is challenged by differences in age of diagnosis and demographic characteristics. We performed a genomewide linkage analysis in multiplex families with both IA and AA from the Familial Intracranial Aneurysm study. Methods-Available medical records of subjects who reported IA or abdominal/thoracic AA were reviewed with adjudication as definite/probable, possible, or not a case. To identify genes contributing to the susceptibility for IA and AA, genomewide linkage analysis was performed in the 26 multiplex IA families who had members who also had thoracic or abdominal AA. Individuals (nϭ91) were defined as affected if they had an IA (definite/probable) or an aortic or thoracic AA (definite/probable). Results-Maximum logarithm of odds (LOD) scores were found on chromosomes 11 (144 cM; LODϭ3.0) and 6 (33 cM; LODϭ2.3). In both chromosomal regions, analyses of these same 26 families considering only IA as the disease phenotype produced LOD scores of 1.8 and 1.6, respectively. Conclusions-Our linkage analysis in these 26 families using the broadest disease phenotype, including IA, abdominal AA, and thoracic AA, supports the concept of shared genetic risk. The chromosome 11 locus appears to confirm earlier independent associations in IA and AA. The chromosome 6 finding is novel. Both warrant further investigation.

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Section: Discussioncontrasting

confidence: 68%

Section: Discussionmentioning

confidence: 82%

Genome Screen to Detect Linkage to Common Susceptibility Genes for Intracranial and Aortic Aneurysms

Worrall

Foroud

Brown

et al. 2009

Stroke

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“…A variety of genes or chromosomal regions have been identified in both familial and sporadic cases of IAs. [59][60][61][62][63][64][65][66][67][68][69][70][71][72][73] In linkage studies, regions on chromosomes 1p34.3-p36.13, 7q11, 19q13.3, and Xp22 have been associated with IAs. Genome-wide association studies identified replicated associations on chromosome 4q31.23 (EDNRA), 8q12.1 (SOX17), 9p213 (CDKN2A/CDKN2B/CDKN2BAS), 10q24.32 (CNNM2), 12q22, 13q13.1 (KL/STARD13), 18q11.2 (RBBP8), and 20p12.1, with the strongest evidence for the CDKN2BAS and SOX17 genes.…”

Section: Family History and Geneticsmentioning

confidence: 99%

Guidelines for the Management of Patients With Unruptured Intracranial Aneurysms

Thompson¹,

Brown²,

Amin‐Hanjani³

et al. 2015

Stroke

799

352

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Purpose— The aim of this updated statement is to provide comprehensive and evidence-based recommendations for management of patients with unruptured intracranial aneurysms. Methods— Writing group members used systematic literature reviews from January 1977 up to June 2014. They also reviewed contemporary published evidence-based guidelines, personal files, and published expert opinion to summarize existing evidence, indicate gaps in current knowledge, and when appropriate, formulated recommendations using standard American Heart Association criteria. The guideline underwent extensive peer review, including review by the Stroke Council Leadership and Stroke Scientific Statement Oversight Committees, before consideration and approval by the American Heart Association Science Advisory and Coordinating Committee. Results— Evidence-based guidelines are presented for the care of patients presenting with unruptured intracranial aneurysms. The guidelines address presentation, natural history, epidemiology, risk factors, screening, diagnosis, imaging and outcomes from surgical and endovascular treatment.

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“…(Farnham et al 2004; Foroud et al 2008, 2009; Kim et al 2011; Mineharu et al 2007; Nahed et al 2005; Olson et al 2002; Onda et al 2001; Ozturk et al 2006; Roos et al 2004; Ruigrok et al 2008; Santiago-Sim et al 2009; van der Voet et al 2004; Verlaan et al 2006; Yamada et al 2004). A recent meta-analysis of five familial mapping studies revealed an additional two loci in linkage disequilibrium with FIA, 3q27.3-3qter and 17p12-q21.33 (Biros and Golledge 2008). A SNP association study aimed at replicating loci previously flagged by linkage analysis confirmed the association at 14q23 (found by (Ozturk et al 2006)) in a cohort of 266 affected and 288 unaffected Japanese individuals (Mineharu et al 2008).…”

Section: Family Mapping Studiesmentioning

confidence: 99%

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

Hitchcock

Gibson

2016

Journal of Genetic Counseling

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Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family. Studies using linkage analysis, genome-wide association, and next-generation sequencing have found several candidate loci and genes associated with disease onset, but have not conclusively implicated a single gene. In addition to family history, a separate or concurrent diagnosis of autosomal dominant polycystic kidney disease is a strong genetic risk factor for IBA formation. We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, Marfan syndrome, Neurofibromatosis Type I, and Loeys–Dietz syndrome.

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Meta-analysis of whole-genome linkage scans for intracranial aneurysm

Abstract: Background and Purpose: Genetic predisposition likely plays an important role in the development of intracranial aneurysms. We carried out a genome search meta-analysis to identified loci associated with intracranial aneurysm.

Cited by 15 publications

References 22 publications

Genome Screen to Detect Linkage to Common Susceptibility Genes for Intracranial and Aortic Aneurysms

Genome Screen to Detect Linkage to Common Susceptibility Genes for Intracranial and Aortic Aneurysms

Guidelines for the Management of Patients With Unruptured Intracranial Aneurysms

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

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