Genetic Study of Intracranial Aneurysms

Yan, Junxia; Hitomi, Toshiaki; Takenaka, Katsunobu; Kato, Masayasu; Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H.

doi:10.1161/strokeaha.114.007286

Cited by 36 publications

(37 citation statements)

References 26 publications

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“…Yan et al (2015) had broader inclusion criteria and sequenced families with three or more affected first- to third- degree relatives. They sequenced 42 affected people from 12 families of Japanese ancestry.…”

Section: Next-generation Sequencing Studiesmentioning

confidence: 99%

“…While both of these protein changes are predicted to be deleterious, relatively little is known about the gene function and there was not sufficient evidence to classify either mutation as pathogenic. Yan et al (2015) then selected ten variants from nine genes, based on functions that were plausibly associated to the pathogenesis of intracranial aneurysms, for Sanger sequencing and replication in two additional Japanese cohorts. The first replication cohort consisted of probands from 24 independent FIA families, and the second replication cohort included 426 individuals diagnosed with sporadic IBA.…”

Section: Next-generation Sequencing Studiesmentioning

confidence: 99%

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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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Section: Next-generation Sequencing Studiesmentioning

confidence: 99%

Section: Next-generation Sequencing 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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“…Rupture of IAs can cause subarachnoid hemorrhage, which has a high ratio of fatality and morbidity [3]. Although several genome-wide association studies have been performed worldwide [4–7], the pathogenesis of IAs remains unknown.…”

Section: Introductionmentioning

confidence: 99%

Aberrant expression of lncRNAs and mRNAs in patients with intracranial aneurysm

Wang

et al. 2016

Oncotarget

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Intracranial aneurysm (IA) is pathological dilatations of the cerebral artery and rupture of IAs can cause subarachnoid hemorrhage, which has a high ratio of fatality and morbidity. However, the pathogenesis of IAs remains unknown. We performed long noncoding RNA (lncRNA) and messenger RNA (mRNA) expression profiles in IA tissues and superficial temporal arteries (STAs). A total of 4129 differentially expressed lncRNAs and 2926 differentially expressed mRNAs were obtained from the microarrays (P < 0.05). Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses showed that up-regulated mRNAs were enriched in immune response, inflammatory response, regulation of immune response and lysosome, et al; while the down-regulated mRNAs were enriched in muscle contraction, smooth muscle contraction, cGMP-PKG signaling pathway and vascular smooth muscle contraction, et al. The lncRNA-mRNA co-expression networks were represented in immune response, inflammatory response, muscle contraction and vascular smooth muscle contraction. These findings may gain insight in the pathogenesis of IAs and provide clues to find key roles for IA patients.

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“…Known risk factors for aneurysm formation include hypertension, smoking, and alcohol consumption; however, familial occurrences and an association with heritable connective tissue diseases-including polycystic kidney disease, and neurofibromatosis type 1-has been established, supporting a genetic component. Recently, Yan et al [7] reported that the ADAMTS15 gene may be a strong candidate for familial aneurysm etiology.…”

Section: Discussionmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome and intracranial vascular pathologies

et al. 2015

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Birt-Hogg-Dubé syndrome, first described in 1977, is a rare autosomal dominant condition that commonly presents with skin lesions, including fibrofolliculomas and trichodiscomas; pulmonary cysts; spontaneous pneumothoraces; and renal cancer. We present the only known cases of intracranial vascular pathologies in patients with Birt-Hogg-Dubé syndrome. We present three cases (three female; age range 18-50) of intracranial vascular lesions in Birt-Hogg-Dubé patients, including two aneurysms and one arteriovenous malformation, and review one previously reported case of carotid aplasia. Due to the rarity of Birt-Hogg-Dubé syndrome and significant variations in its clinical presentation, it is difficult to assess whether or not Birt-Hogg-Dubé patients are predisposed to intracranial vascular pathologies. We hypothesize that increased transcription of hypoxia-inducible factor 1-alpha, resulting from a mutated form of the protein folliculin transcribed by the Birt-Hogg-Dubé gene, may be associated with vascular pathogenesis in Birt-Hogg-Dubé patients and thus provide a possible molecular basis for a link between these two conditions.

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Genetic Study of Intracranial Aneurysms

Cited by 36 publications

References 26 publications

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

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

Aberrant expression of lncRNAs and mRNAs in patients with intracranial aneurysm

Birt–Hogg–Dubé syndrome and intracranial vascular pathologies

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