BACKGROUND: Alpha-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 AND METHODS: A 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.

RESULTS: Similar 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.

CONCLUSIONS: Our 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.

Keywords: Asian Continental Ancestry Group - genetics, Case-Control Studies, Cerebral Hemorrhage - genetics, Genetic Predisposition to Disease, Genotype, Polymorphism, Single Nucleotide, Risk Factors, alpha 1-Antichymotrypsin - genetics