Abstract

Our study aims to discuss the correlation between N-acetyltransferase 2 (NAT2) gene polymorphism and cirrhotic portal hypertension in the Chinese population for the purpose of exploring the functional significance of NAT2 gene polymorphism. From June 2010 to February 2014, a total of 212 posthepatitis B cirrhosis patients (the observation group) from the affiliated Shandong Province-owned Hospital of Shandong University diagnosed by needle biopsy of the liver, B ultrasound, or surgical operation were recruited. These 212 patients were divided into a cirrhotic portal hypertension group (PHT(+) group) (130 patients) and a simple liver cirrhosis (LC) group (PHT(-) group) (82 patients), and 172 healthy blood donors were enrolled into the control group. The polymerase chain reaction-restriction fragment length polymorphism method was adopted to detect NAT2 gene polymorphism and some related statistical analysis. In these 212 patients, four mutation alleles in the NAT2 gene (WT, M1, M2, and M3) were detected. The frequency of patients carrying NAT2 slow acetylator genotype in the observation group was higher than that in the control group, but there was no significant difference (p>0.05). However, there was a significant difference in the NAT2 slow acetylator genotype frequency between the PHT(+) group and the control group (p<0.05). The risk for the occurrence of PHT in NAT2 slow acetylator genotype carriers was more frequent than that in NAT2 rapid acetylator genotype carriers. In addition, the diameters of the portal vein and splenic vein as well as spleen thickness in NAT2 rapid acetylator genotype were obviously bigger than that in the NAT2 slow acetylator genotype. Our study provided empirical evidence that NAT2 gene polymorphism may be correlated to the formation of cirrhotic portal hypertension, and it might be used as a potential biomarker for genetic susceptibility to PHT in Chinese population.

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