DLG1基因多态性与炎症性肠病遗传易感性研究

Study on DLG1 Gene Polymorphism and Genetic Susceptibility to Inflammatory Bowel Disease

目的：研究DLG1基因多态性与我国汉族人群炎症性肠病（IBD）遗传易感性的相关性。方法：本研究共纳入345例IBD患者（溃疡性结肠炎160例,克罗恩病185例）和463例健康对照者,以及4例克罗恩病患者的15名家系成员。采用聚合酶链反应~碱基序列特异性引物法对DLG1基因第九外显子chr3_196865242位点进行基因测序和多态性分析。结果：散发CD组GA基因型频率为18.9%,与健康对照组（11.7%）相比,差异有统计学意义,P〈0.05;散发UC组GA基因型频率为12.5%,与健康对照组（11.7%）相比,无统计学差异,P〉0.05;家系组成员GA基因型频率为60%,与健康对照组（11.7%）相比,差异有统计学意义,P〈0.05。结论：DLG1基因chr3_196865242位点被证实存在多态性,该位点多态性可能与克罗恩病的易感性相关。

Objective：To investigate the association between DLG1 polymorphism and genetic suscepti-bility of inflammatory bowel disease（IBD）.Method： DLG1 R278Q（chr3_196865242） was analyzed with PCR-based RFLP and direct sequencing, including 4 cases with CD and 11 undiagnosed samples from the same family, 185 with sporadic CD,160 with sporadic UC, and 463 unrelated healthy controls.Results：The frequency of“A”allele of site chr3_196865242 was 18.9%and 60%in sporadic CD group and CJ group re-spectively,significantly higher than that in the normal control group（11.7%, P=0.015 and P〈0.05）.There was no statistical significance between cases of sporadic UC patients and normal control group （ P=0.778） . Conclusion：We have confirmed the polymorphisms of the chr3_196865242 loci in 9 exon of DLG1.It sug-gest that the SNP may be associated with a significantly higher risk for developing CD in Chinese Han popu-lation.