N-乙酰化转移酶1基因分型及其与炎症性肠病相关性研究

目的:探讨药物代谢酶N-乙酰化转移酶1(NAT1)基因多态性在中国人群中的分布及其与炎症性肠病(IBD)的相关性。方法:应用PCR-RFLP和AS-PCR技术检测中国湖北地区无血缘关系的IBD患者105例,其中溃疡性结肠炎组(UC组)87例与克罗恩病组(CD组)18例,和正常对照120例的NAT1基因多态性。结果:IBD组中,NAT1*3,NAT1*4,NAT1*10和NAT1*11等位基因频率分别是20.48%,50.00%,21.90%和7.62%,与正常对照组比较无显著差异。CD组NAT1*10等位基因频率略高于UC组(25.00%比21.26%),但差异无显著性(P>0.05);将NAT1基因型分为快代谢和慢代谢乙酰化基因型,与正常对照组比较亦无显著差异。UC组快代谢基因型(NAT1*10纯合子)与CD组相比有增高趋势(16.67%比12.64%),但差异无显著性(P>0.05)。结论:NAT1基因多态性与炎症性肠病不存在关联。

N-acetyltransferasa 1 Polymorphisms and Genetic Susceptibility to Inflammatory Bowel Disease

Objective: To assess the association between the genetic polymorphisms of N-acetyltransferase-1(NAT1) and NAT1 susceptibility to inflammatory bowel disease(IBD).Methods: The NAT1 genotypes of 105 IBD cases and 120 controls were detected with polymerase chain reaction followed by restriction fragment length polymorphism(PCR-RLFP) and allele-special polymerase chain reaction(AS-PCR).(Results:) In IBD cases,the frequencies of NAT1*3,NAT1*4,NAT1*10 and NAT1*11 were(20.48%,)50.00%,21.90% and 7.62%,respectively;no statistically significant difference of the frequencies was found between the IBD and control group.We divided the IBD cases into ulcerative colitis(UC) and Crohris disease(CD) groups,and the frequency of NAT1*10 in CD cases was higher than that of UC cases,but there was no significant differences in the genotype frequency between the two groups(P>(0.05);) and in IBD cases,the frequencies of rapid type NAT1 homozygote and heterozygote and slow type NAT1 were 13.33%,17.14% and 69.52%,respectively,which showed no stastistically significant difference compared with the control group((P>0.05).)(Conclusion:) There is no relation between genetic polymorphisms of NAT1 and IBD.