Endoglin gene insertion polymorphism not associated with aneurysmal subarachnoid hemorrhage

Pera, Joanna; Słowik, Agnieszka; Dziedzic, Tomasz; Borratyńska, Anna; Róg, Teresa; Betlej, Marek; Czepko, Ryszard; Szczudlik, Andrzej

doi:10.3171/jns.2005.102.5.0879

Cited by 10 publications

(6 citation statements)

References 18 publications

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“…One study addressed intracerebral haemorrhage [47] and two studies addressed subarachnoid haemorrhage [48], [49]. When considered in totality, those homozygous for the insertion allele demonstrated an OR of 3.47 (95% CI, 1.45–8.30; p = 0.005).…”

Section: Resultsmentioning

confidence: 99%

The Genetics of Primary Haemorrhagic Stroke, Subarachnoid Haemorrhage and Ruptured Intracranial Aneurysms in Adults

et al. 2008

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BackgroundThe genetic basis of haemorrhagic stroke has proved difficult to unravel, partly hampered by the small numbers of subjects in any single study. A meta-analysis of all candidate gene association studies of haemorrhagic stroke (including ruptured subarachnoid haemorrhage and amyloid angiopathy-related haemorrhage) was performed, allowing more reliable estimates of risk.MethodsA systematic review and meta-analysis of all genetic studies in haemorrhagic stroke was conducted. Electronic databases were searched until and including March 2007 for any candidate gene in haemorrhagic stroke. Odds ratio (OR) and 95% confidence intervals (CI) were determined for each gene disease association using fixed and random effect models.ResultsOur meta-analyses included 6,359 cases and 13,805 controls derived from 55 case-control studies, which included 12 genes (13 polymorphisms). Statistically significant associations with haemorrhagic stroke were identified for those homozygous for the ACE/I allele (OR, 1.48; 95% CI, 1.20–1.83; p = 0.0003) and for the 5G allele in the SERPINE1 4G/5G polymorphism (OR, 1.42; 95% CI, 1.03–1.96; p = 0.03). In addition, both &b.epsi;2 and &b.epsi;4 alleles of APOE were significantly associated with lobar haemorrhage (OR, 1.81; 95% CI, 1.26–2.62; p = 0.002 and OR, 1.49; 95% 1.08–2.05; p = 0.01 respectively). Furthermore, a significant protective association against haemorrhagic stroke was found for the factor V Leiden mutation (OR, 0.30; 95% CI, 0.10–0.87; p = 0.03).ConclusionOur data suggests a genetic contribution to some types of haemorrhagic stroke, with no overall responsible single gene but rather supporting a polygenic aetiology . However, the evidence base is smaller compared to ischaemic stroke. Importantly, for several alleles previously found to be associated with protection from ischaemic stroke, there was a trend towards an increased risk of haemorrhagic stroke.

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Section: Resultsmentioning

confidence: 99%

The Genetics of Primary Haemorrhagic Stroke, Subarachnoid Haemorrhage and Ruptured Intracranial Aneurysms in Adults

et al. 2008

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“… 20 Finally, 11 studies with a total of 1501 cases and 2012 controls on IA susceptibility related to 6bINS polymorphism or rs1800956 were included in this study. 12 – 16 , 21 – 26 Study characteristics are summarized in Table 1 . Of these, 5 studies were conducted in Asian descendants, 12 , 14 – 16 , 23 5 studies in Caucasian descendants, 13 , 21 , 22 , 24 , 26 and 1 study in mixed descendants.…”

Section: Resultsmentioning

confidence: 99%

“… 15 , 21 The remaining 5 studies enrolled both sporadic IA and familial IA patients, including 2 studies 12 , 14 providing separate data on genotype distribution for subgroup patients and 1 study 26 providing allele data for familial IA only. Peter et al 22 provided separate data for ruptured and unruptured IA while Pera et al 21 only enrolled patients with ruptured IA. Five studies 21 – 25 enrolled population-based controls and 2 studies 14 , 15 enrolled hospital-based controls.…”

Section: Resultsmentioning

confidence: 99%

“…Peter et al 22 provided separate data for ruptured and unruptured IA while Pera et al 21 only enrolled patients with ruptured IA. Five studies 21 – 25 enrolled population-based controls and 2 studies 14 , 15 enrolled hospital-based controls. In all included studies except 2, 25 , 26 which provided allele data only, genotype distribution of controls was in accordance with HWE.…”

Section: Resultsmentioning

confidence: 99%

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Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility

Fang

et al. 2015

Medicine

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Endoglin is an essential molecule during angiogenesis, vascular development, and integrity. Till now, many studies have investigated the association between endoglin polymorphisms and intracranial aneurysm (IA) risk, with the results remained inconclusive. Therefore, we performed a meta-analysis to summarize the possible association.We searched PubMed and Embase until June 2015 to identify studies addressing the association between endoglin polymorphisms and IA risk. The summary odds ratios (ORs) and their corresponding 95% confidence interval (CI) were calculated to assess the strength of the association.Eleven studies with a total of 1501 cases and 2012 controls were finally included in this meta-analysis, with 10 studies investigating endoglin 6-bp insertion (6bINS) polymorphism and 4 studies investigating 1800956 polymorphism. No significant association between endoglin 6bINS polymorphism and IA risk was detected in overall estimation (I/I vs wt/I + wt/wt: OR = 1.21, 95% CI = 0.87–1.69) or in the subgroup analysis by ethnicity, control source, or ruptured status. However, we observed an association with borderline significance of 6bINS with IA occurrence (I/I vs wt/I + wt/wt: OR = 1.49, 95% CI = 0.99–2.25, P = 0.058) in studies applying matched controls. Furthermore, we detected a significant association for 6bINS polymorphism of endoglin with increased risk of familial IA (I vs wt, OR = 1.64, 95% CI = 1.10–2.42) but not sporadic IA (I vs wt, OR = 1.09, 95% CI = 0.68–1.45). With regard to rs1800956, our pooled results indicated a significantly decreased IA risk in individuals carrying C allele (C/C vs G/C + G/G: OR = 0.65; 95% CI = 0.45–0.94).This meta-analysis provided no evidence for the association between 6bINS polymorphism with overall IA risk. However, we detected a significant association of 6bINS allele with increased risk of familial IA. Also, we found that rs1800956 was significantly related to IA occurrence. Further, well-designed studies with large sample size are warranted and updated meta-analysis is needed to verify our findings.

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“…An association between ENG and IA was indeed reported (167). In other reports, however, there is neither association nor linkage between the ENG locus and IA in familial IAs, suggesting that ENG is not a major susceptibility gene for IA (168)(169)(170)(171). Significant inflammatory cell invasion leads to significant structural changes in the vascular walls where IAs were observed.…”

Section: Growth Factor Receptor and Cytokinesmentioning

confidence: 94%

Molecular Genetics of Human Intracranial Aneurysms

Zhang

Claterbuck

2008

International Journal of Stroke

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Intracranial aneurysms (IAs) are the dilatations of blood vessels in the brain and pose potential risk of rupture leading to subarachnoid hemorrhage. Although the genetic basis of IAs is poorly understood, it is well-known that genetic factors play an important part in the pathogenesis of IAs. Therefore, the identifying susceptible genetic variants might lead to the understanding of the mechanism of formation and rupture of IAs and might also lead to the development of a pharmacological therapy. To elucidate the molecular pathogenesis of diseases has become a crucial step in the development of new treatment strategies. Although extensive genetic research and its potential implications for future prevention of this often fatal condition are urgently needed, efforts to elucidate the susceptibility loci of IAs are hindered by the issues bewildering the most common and complex genetic disorders, such as low penetrance, late onset, and uncertain modes of inheritance. These efforts are further complicated by the fact that many IA lesions remain asymptomatic or go undiagnosed. In this review, we present and discuss the current status of genetic studies of IAs and we recommend comprehensive genome-wide association studies to identify genetic loci that underlie this complex disease.

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Endoglin gene insertion polymorphism not associated with aneurysmal subarachnoid hemorrhage

Abstract: The authors failed to find an association between the intronic insertion polymorphism of the ENG gene and aneurysmal SAH in a Polish population.

Cited by 10 publications

References 18 publications

The Genetics of Primary Haemorrhagic Stroke, Subarachnoid Haemorrhage and Ruptured Intracranial Aneurysms in Adults

The Genetics of Primary Haemorrhagic Stroke, Subarachnoid Haemorrhage and Ruptured Intracranial Aneurysms in Adults

Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility

Molecular Genetics of Human Intracranial Aneurysms

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