CAJ | 학술논문

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。
목적：연구DLG1기인다태성여아국한족인군염증성장병（ IBD）유전역감성적상관성。방법：본연구공납입345례IBD환자（궤양성결장염160례，극라은병185례）화463례건강대조자，이급4례극라은병환자적15명가계성원。채용취합매련반응～감기서렬특이성인물법대DLG1기인제구외현자chr3＿196865242위점진행기인측서화다태성분석。결과：산발CD조GA기인형빈솔위18．9％，여건강대조조（11．7％）상비，차이유통계학의의，P＜0．05；산발UC조GA기인형빈솔위12．5％，여건강대조조（11．7％）상비，무통계학차이，P＞0．05；가계조성원GA기인형빈솔위60％，여건강대조조（11．7％）상비，차이유통계학의의，P＜0．05。결론：DLG1기인chr3＿196865242위점피증실존재다태성，해위점다태성가능여극라은병적역감성상관。
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.