Hu Jing, Mei Qiao, Huang Jian, Hu Nai-Zhong, Liu Xiao-Chang, Xu Jian-Ming
Jing Hu, Qiao Mei, Jian Huang, Nai-Zhong Hu, Xiao-Chang Liu, Jian-Ming Xu, Department of Gastroenterology, the First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gastroenterology of Anhui Province, Hefei 230022, Anhui Province, China.
World J Gastroenterol. 2014 Jun 21;20(23):7466-72. doi: 10.3748/wjg.v20.i23.7466.
To explore the association of MYO9B gene polymorphisms with clinical phenotypes and intestinal permeability of individuals with inflammatory bowel disease (IBD) in China.
A total of 442 IBD patients and 402 healthy volunteers were genotyped for two single nucleotides (rs962917 and rs1545620) using the ligase detection reaction and polymerase chain reaction. Allelic and genotype frequency analyses were performed for the two groups. Intestinal permeability was evaluated using lactulose (L) and mannitol (M) excretion. The association of MYO9B gene polymorphisms with intestinal permeability between the normal and high intestinal permeability groups was analyzed.
Overall, there was no significant difference in the genotypic and allelic frequencies of MYO9B between IBD patients and controls. Although no association was found with ulcerative colitis in the comparison between the subgroups, the frequencies of rs962917 and rs1545620 were different in the Crohn's disease (CD) subgroup with ileocolitis (CC vs CT and TT, P = 0.014; and AA vs AC and CC, P = 0.022, respectively). rs1545620 variants appear to be the genetic susceptibility factor for perianal disease in CD patients (AA vs AC CC, P = 0.029). In addition, the L/M ratio was significantly higher in IBD patients than in controls (0.065 ± 0.013 vs 0.020 ± 0.002, P = 0.02), but no association was found between the MYO9B gene and the L/M ratio in IBD patients.
MYO9B gene polymorphisms may influence the sub-phenotypic expression of CD in China. No association between these MYO9B polymorphisms and intestinal permeability in IBD patients was found.
探讨中国炎症性肠病（IBD）患者中MYO9B基因多态性与临床表型及肠道通透性的关联。
采用连接酶检测反应和聚合酶链反应对442例IBD患者和402例健康志愿者的两个单核苷酸（rs962917和rs1545620）进行基因分型。对两组进行等位基因和基因型频率分析。采用乳果糖（L）和甘露醇（M）排泄评估肠道通透性。分析正常和高肠道通透性组之间MYO9B基因多态性与肠道通透性的关联。
总体而言，IBD患者和对照组之间MYO9B的基因型和等位基因频率无显著差异。虽然亚组比较中未发现与溃疡性结肠炎有关联，但在患有回结肠炎的克罗恩病（CD）亚组中，rs962917和rs1545620的频率不同（CC与CT和TT相比，P = 0.014；AA与AC和CC相比，P分别为0.022）。rs1545620变异似乎是CD患者肛周疾病的遗传易感性因素（AA与AC + CC相比，P = 0.029）。此外，IBD患者的L/M比值显著高于对照组（0.065±0.013 vs 0.020±0.002，P = 0.02），但未发现IBD患者中MYO9B基因与L/M比值之间存在关联。
MYO9B基因多态性可能影响中国CD的亚表型表达。未发现这些MYO9B多态性与IBD患者肠道通透性之间存在关联。
