The Study Of Correlation Between Platelet-activating Factor Acetylhydrolase Gene And Dilated Cardiomyopathy

Background: Dilated cardiomyopathy is an important clinical cause of heart failure and sudden death, and etiological factors can not be clarified completely. It can be classified as sporadic and family dilated cardiomyopathy. About more than 80% patients is sporadic, and family patients is rare in dilated cardiomyopathy. It is considered that family dilated cardiomyopathy is attributed to some abnormal genes, but the relation of sporadic dilated cardiomyopathy and gene mutation is not clarified.Recently, it was reported in some studys that the activity of platelet activating factor acetylhydrolase(PAF-AH) is closely related to many cardiovascular diseases. Activity of PAF-AH is determined by its genetype. Yamada Y manifested that the frequence of PAF-AH mutant allele is significantly higher in the patients with no family hypertrophic cardiomyopathy than healthy controls. In addition, another Japanese scholar considered that the morbidity of sporadic dilated cardiomyopathy is related to G⁹⁹⁴→T polymorphism of platelet activating factor acetylhydrolase gene. It is no correlated report in this domain in China.Objective: We will study the relation of G⁹⁹⁴→ T mutation in platelet-activting factor acetylhydrolase gene and sporatic dilatedcardiomyopathy in China.Methods: By polymerase chain reaction-restriction fragment lengthpolymorphism and nucleotide sequencing, we decide the genotype in the 110control subjects and 89 patiens with DCM, and perform statistical analysis.Results: We have detected 17 mutant heterozygotes and 72 normalhomozygotes in DCM subjects as well as 10 mutant heterozygotes and 100normal homozygotes in control subjects , while we did detect mutanthomozygotes in neither DCM subjects nor in control subjects. We performedChi-square test .The results of statistical analysis show that the G994-*Tmutation frequence in patiens with sporatic dilated cardiomyopathy is higherthan in healthy controls(Xi=4.20 P<0.05).Conclusion: The G994 -*â–  T mutation in platelet activiting factoracetylhydrolase gene is associated with sporatic dilated cardiomyopathy inChinese subjects, and is likely one of susceptibility genes of dilatedcardiomyopathy.