The genetics of sporadic ruptured and unruptured intracranial aneurysms: a genetic meta-analysis of 8 genes and 13 polymorphisms in approximately 20,000 individuals

McColgan, Peter; Thant, Kyaw Zayar; Sharma, Pankaj

doi:10.3171/2009.8.jns092

Cited by 50 publications

(36 citation statements)

References 61 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although several common variants were identified to be associated with the increased risk of IA development through candidate gene approaches [12][13][14][15][16] and genome-wide association studies, 17,18 only few associations were consistently replicated. 19,20 These might be because of the lack of statistical power of the study or differences in the allele frequencies across different populations.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2011

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 99%

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

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Subsequently, various studies with conflicting opinions have been reported (18,19,23). A previous meta-analysis failed to detect an association between the ACE I/D polymorphism and IA susceptibility in the dominant (OR=1.23, 95% CI=0.82-1.85; P OR =0.31) or the recessive (OR=1.58, 95% CI=0.98-2.57; P OR =0.06) models (11). By contrast, another meta-analysis demonstrated a close association between the ACE I/D polymorphism and IA risk.…”

Section: Codominant Model -------------------------------------------mentioning

confidence: 99%

Association between angiotensin-converting enzyme insertion/deletion polymorphisms and intracranial aneurysm susceptibility: A meta-analysis

et al. 2017

View full text Add to dashboard Cite

Abstract.Various studies have evaluated the association between polymorphisms of angiotensin-converting enzyme (ACE) and intracranial aneurysm (IA) risk; however, the results remain inconsistent. The PubMed, Embase, and Wanfang Data databases were systematically searched until January 6th 2016. Case-control studies investigating the association between the ACE polymorphism and IA risk were included. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated with the fixed or random-effects model assuming allele, homozygote comparison of codominant, heterozygote comparison of codominant, dominant, and recessive models. Seven studies including 1,074 cases and 1,500 controls were included in the current meta-analysis. The results of the analysis indicated that the ACE polymorphism significantly increased IA risk in the allele, homozygote comparison of codominant and dominant models. According to the further stratified analysis by ethnicity, source of control and sample sizes, a significant association was identified between the ACE variant and IA risk in Asian individuals, hospital-based, or large (>300) subgroups in all of the genetic models, not including the recessive model. Furthermore, no significantly increased risk was indicated in Caucasian individuals, population-based, or small (<300) subgroups in the heterozygote comparison of codominant, dominant and recessive models. The available evidence indicates that the ACE polymorphism is associated with an increased risk of IA, particularly in Asian individuals. However, other factors may impact this association. Further large, well-designed multicenter studies are required to validate the findings from the present study.

show abstract

“…[15][16][17][18][19][20] Until now, the relationship between ACE I/D polymorphisms and IA has only been studied in Caucasian populations and in a single study from Japan. [20][21][22][23][24] The aim of the present hospital-based, case-control study was to investigate the association between ACE I/D polymorphisms and the risk of IA in a Chinese population.…”

Section: Introductionmentioning

confidence: 99%

Angiotensin-converting enzyme insertion/deletion gene polymorphism and risk of intracranial aneurysm in a Chinese population

Liu

et al. 2013

J Int Med Res

View full text Add to dashboard Cite

The relationship between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphisms and intracranial aneurysm (IA) has been studied in Caucasian and Japanese populations. The present study aimed to investigate this association in a Chinese population. Methods: Patients with confirmed IA and age-and sex-matched control subjects without evidence of IA were enrolled. ACE I/D gene polymorphisms were analysed using polymerase chain reactionrestriction fragment length polymorphism. Results: A total of 220 patients with IA and 220 matched controls were enrolled. In the IA group, 64, 106 and 50 patients were of the II, ID and DD genotypes, respectively, compared with 44, 99 and 77 subjects in the control group. The ACE DD genotype and D allele frequencies were significantly lower in the IA group compared with the control group. There were no statistically significant differences in the site, shape, size and Fisher Grade of aneurysms between genotypes in patients with IA. Conclusion: The ACE DD genotype may be a protective factor for IA in a Chinese population.

show abstract

The genetics of sporadic ruptured and unruptured intracranial aneurysms: a genetic meta-analysis of 8 genes and 13 polymorphisms in approximately 20,000 individuals

Abstract: There is a likely genetic basis to sporadic IAs. However, the evidence base is small when compared against other complex disorders.

Cited by 50 publications

References 61 publications

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

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

Association between angiotensin-converting enzyme insertion/deletion polymorphisms and intracranial aneurysm susceptibility: A meta-analysis

Angiotensin-converting enzyme insertion/deletion gene polymorphism and risk of intracranial aneurysm in a Chinese population

Contact Info

Product

Resources

About