Alpha-1 Antichymotrypsin Gene Signal Peptide A/T Polymorphism and Primary Intracerebral Hemorrhage

Dardiotis, Efthimios; Hadjigeorgiou, Giorgos M.; Dardioti, Maria; Scarmeas, Nikolaos; Paterakis, Konstantinos; Aggelakis, Konstantinos; Komnos, Apostolos; Τάσιου, Αναστασία; Xiromerisiou, Georgia; Gabranis, Ioannis; Ζιντζαράς, Ηλίας; Papadimitriou, A.; Karantanas, Apostolos H.

doi:10.1159/000121420

Cited by 13 publications

(13 citation statements)

References 77 publications

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“…In a Chinese study, a significant gene-environment interaction, referred to as a super multiplicative type 4 interaction, was shown between both ACT AT and TT genotypes and primary hypertension, which is not fully consistent with other results [109] . On the other hand, some results support the data, suggesting a lack of association between the ACT A/T polymorphism and PICH [110] .…”

Section: Alpha-1 Antichymotrypsin (Act)supporting

confidence: 56%

Genetics of stroke

Guo

Liu

2010

Acta Pharmacol Sin

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Stroke is the second most common cause of death and the most common cause of disability in developed countries. Stroke is a multifactorial disease caused by a combination of environmental and genetic factors. Numerous epidemiologic studies have documented a significant genetic component in the occurrence of strokes. Genes encoding products involved in lipid metabolism, thrombosis, and inflammation are believed to be potential genetic factors for stroke. Although a large group of candidate genes have been studied, most of the epidemiological results are conflicting. Studies of stroke as a monogenic disease have made huge progress, and animal models serve as an indispensable tool to dissect the complex genetics of stroke. In the present review, we provide insight into the role of in vivo stroke models for the study of stroke genetics.

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Section: Alpha-1 Antichymotrypsin (Act)supporting

confidence: 56%

Genetics of stroke

Guo

Liu

2010

Acta Pharmacol Sin

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“…54 However, these associations were not replicated in a study from Poland 55 and in a group of 147 Greek patients from our department. 56 In our group we observed only a marginal association in the non-hypertensive group (p=0.05). It is possible that in nonhypertensive patients the absence of hypertension unmasks the relatively minor effects of ACT A/T signal peptide polymorphism on the cerebral vasculature, making it more susceptible to haemorrhage.…”

Section: Alpha-1 Antichymotrypsin Genecontrasting

confidence: 57%

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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“…Fu et al reported increased risk of ICH in a Chinese population carrying with ACT-AT or TT genotypes [ 16 ]. However, these findings failed to be replicated by other studies [ 17 – 20 ]. The inconsistency might be attributed to the small sample size and the subsequent insufficient statistical power, different ethnic background, or even the potential existence of selection bias.…”

Section: Introductioncontrasting

confidence: 58%

Is Alpha-1 Antichymotrypsin Gene Polymorphism a Risk Factor for Primary Intracerebral Hemorrhage? A Case-Control Study and Meta-Analysis

et al. 2015

Med Sci Monit

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BackgroundAlpha-1 antichymotrypsin (ACT) signal peptide A/T polymorphism has been suggested to play a role in various brain diseases with arterial wall pathology. We conducted a case-control study and a meta-analysis to evaluate the association between this polymorphism and risk of primary intracerebral hemorrhage.Material/MethodsA total of 188 patients and 200 age- and sex-matched healthy controls were enrolled in our case-control study. The ACT polymorphism was genotyped by PCR-LDR. Further meta-analysis was conducted by searching literature from PUBMED, EMBASE, and Chinese National Knowledge Infrastructure databases until December 2014, then combining data using STATA10.0.ResultsSimilar genotype distribution was detected between PICH patients and healthy controls (p=0.523). Further analysis based on hypertension and location of hemorrhage did not observe significant association. Multiple logistic regression analysis also failed to identify ACT polymorphism as an independent risk factor for PICH. With regard to meta-analysis, a total of 6 case-control studies including 932 PICH patients and 1140 controls were enrolled. Pooled ORs failed to detect a significant association of ACT signal peptide A/T polymorphism with PICH (dominant model: OR=1.03, 95%CI=0.72–1.46; recessive model: OR=1.08, 95%CI=0.88–1.32). Subgroup analysis based on hypertension revealed no association in hypertensive PICH or in normotensive PICH.ConclusionsOur case-control study in a Chinese population did not detect a significant association between ACT signal peptide A/T polymorphism and PICH. Moreover, meta-analysis combining data from relevant studies failed to provide evidence for the association. Further well-designed studies with larger sample sizes are warranted to verify our findings.

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Alpha-1 Antichymotrypsin Gene Signal Peptide A/T Polymorphism and Primary Intracerebral Hemorrhage

Cited by 13 publications

References 77 publications

Genetics of stroke

Genetics of stroke

Genetic Susceptibility to Primary Intracerebral Haemorrhage

Is Alpha-1 Antichymotrypsin Gene Polymorphism a Risk Factor for Primary Intracerebral Hemorrhage? A Case-Control Study and Meta-Analysis

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