DD genotype of ACE gene is a risk factor for intracerebral hemorrhage

Słowik, Agnieszka; Turaj, Wojciech; Dziedzic, Tomasz; Haefele, A.; Pera, Joanna; Małecki, Maciej; Głodzik-Sobańska, Lidia; Szermer, Paweł; Figlewicz, Denise A.; Szczudlik, Andrzej

doi:10.1212/01.wnl.0000130200.12993.0c

Cited by 54 publications

(43 citation statements)

References 11 publications

(10 reference statements)

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“…[41][42][43][44] ACE I/D polymorphisms have also been extensively studied in several cardiovascular adult diseases, such as thoracic aortic dissection, 45 ischaemic stroke, 13 coronary heart disease, 14,46 left ventricular hypertrophy 47 and intracerebral haemorrhage. [15][16][17][18][19][20] In conclusion, data from the present study suggest that the ACE DD genotype may be a protective factor against IA in a Chinese population. A larger, multicentre study, which is statistically powered to detect differences in the risk of IA between different ACE genotypes, is required in order to confirm the present results.…”

Section: Discussionsupporting

confidence: 51%

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

Liu

et al. 2013

J Int Med Res

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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.

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Section: Discussionsupporting

confidence: 51%

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

Liu

et al. 2013

J Int Med Res

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“…4 Genomic DNA was extracted from peripheral blood using a commercially available kit from Boehringer Mannheim. SERPINA3 polymorphism was studied using polymerase chain reaction restriction fragment length polymorphism method.…”

Section: Methodsmentioning

confidence: 99%

SERPINA3 Polymorphism Is Not Associated With Primary Intracerebral Hemorrhage in a Polish Population

Pera

Słowik

Dziedzic

et al. 2006

Stroke

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Background and Purpose-Genetic factors involved in the pathogenesis of primary intracerebral hemorrhage (PICH) remain unknown. One of the candidate genes is SERPINA3. Results of a Spanish study suggested that TT genotype of the A/T SERPINA3 polymorphism in the signal peptide sequence was a risk factor for PICH in normotensive subjects. The aim of the present study was to investigate whether SERPINA3 A/T polymorphism is associated with PICH in a Polish population. Methods-We analyzed 95 PICH patients and 190 unrelated healthy controls matched for age and sex. A/T polymorphism of the SERPINA3 gene was investigated using polymerase chain reaction restriction fragment length polymorphism method. Results-The distribution of SERPINA3 genotypes was similar among PICH patients (AA 27.4%; AT 46.3%; TT 26.3%) and controls (AA 23.7%; AT 50.5%; TT 25.8%; PϭNS). There were also no significant differences in genotype distribution when analyzing separately hypertensive and normotensive PICH patients as well as patients with lobar and deeply located hemorrhage. Conclusions-We failed to find an association between SERPINA3 A/T polymorphism and PICH in a Polish population.(Stroke. 2006;37:906-907.)Key Words: genetics Ⅲ intracerebral hemorrhage T he pathogenesis of primary intracerebral hemorrhage (PICH) remains unknown, and genetic factors may play an important role. The polymorphism of the SERPINA3 (previously known as ␣1-antichymotrypsin) gene is one of the candidates for being a genetic factor associated with PICH. Recently, an A/T polymorphism in the signal peptide sequence of the SERPINA3 gene has been reported to be associated with PICH in normotensive patients in a Spanish population, 1 whereas in a Chinese study, with hemorrhagic stroke in hypertensive subjects. 2 There probably are ethnic differences in alleles and genotypes distribution of this polymorphism. 3 In the present study, we investigated whether SERPINA3 A/T polymorphism is associated with PICH in a Polish population. Materials and MethodsThis prospective case-control study involved 95 unrelated patients with PICH selected of 173 patients with hemorrhagic stroke consecutively admitted to the neurology department, University Hospital, Krakow, between October 2002 and April 2003. We excluded patients with head trauma (nϭ3), vasculitis (nϭ1), intracranial aneurysms (nϭ5), arteriovenous malformations (nϭ9), hematologic disorders (nϭ2), malignancy (nϭ3), patients in whom the angioimaging could not be performed because of a moribund status (nϭ19) or technical problems (nϭ10), and those who did not agree to participate in the study (nϭ26). In all included patients, brain computed tomography (CT) and angioimaging (digital subtractive angiography or angio-CT or angio-magnetic resonance) were performed. Sex-and age-matched (Ϯ1 year) control subjects (CS) were recruited from spouses of the patients of the stroke unit (30%), relatives of hospital staff (35%), and patients of the University Hospital hospitalized for any reason other than neurological diseases (35%). Case-t...

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“…However, after excluding the individuals who were receiving ACE inhibitors and adjusting for other variables, the association was no longer statistically significant. 51 In a previous study, the distribution of ACE genotypes and alleles was the same among the controls and patients. 52 It was shown that ACE I/D polymorphism only partially determines the variation in plasma ACE levels, and it is uncertain whether it represents a functional polymorphism; this may explain the inconsistency between the two studies.…”

Section: Angiotensin-converting Enzyme Genementioning

confidence: 84%

Genetic Susceptibility to Primary Intracerebral Haemorrhage

Dardiotis¹,

Xiromerisiou²,

Paterakis³

et al. 2009

European Neurological Review

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Primary intracerebral haemorrhage (PICH) originates from the spontaneous rupture of cerebral arteries as a result of chronic degenerative alterations. Although the aetiology of PICH has not been fully elucidated, it may be the result of an interaction between genetic and environmental risk factors. Several genetic association studies have been conducted in patients with PICH with both positive and negative results. Most of them investigated the role of mutations in genes affecting the lipid metabolism, the coagulation processes, the inflammation and the regulation of blood pressure. In this article we briefly discuss the majority of these studies reporting the susceptibility genes that have been implicated in PICH.

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DD genotype of ACE gene is a risk factor for intracerebral hemorrhage

Cited by 54 publications

References 11 publications

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

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

SERPINA3 Polymorphism Is Not Associated With Primary Intracerebral Hemorrhage in a Polish Population

Genetic Susceptibility to Primary Intracerebral Haemorrhage

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