摘要
目的探讨血管内皮生长因子（vascular endothelial growth factor，VEGF）基因多态性与克罗恩病（Crohn’S disease，CD）易感性的关系。方法收集275例CD患者和495名性别、年龄相匹配的健康对照者，采用SNaPshot技术检测VEGF基因rs699947和rs3025039位点的等位基因和基因型频率。结果CD组与对照组之间整体比较，VEGF基因rs699947和rs3025039位点的变异等位基因和基因型频率差异无统计学意义（P均〉o．05）。分层分析发现，结肠型CD患者中rs699947的变异等位基因（A）和基因型（CA＋AA）频率显著高于对照组（P=0．006，95％CI：1．143～2．234；P=0．005，95％CI：1．203～2．900）。与对照组相比，回肠受累（回肠末段型＋回结肠型）的CD患者中，rs699947的变异等位基因（A）和基因型（CA4-AA）频率偏低（P=0．033，95％CI：0．524～0．974；P=0．043，95％CI：0．481～0．989）。此外，非狭窄非穿透型CD患者中rs3025039纯合子变异基因型（TT）频率低于对照组（0．62％vs．4．85％，P=0．036，95％CI：0．016～O．870）。结论VEGF基因rs699947位点基因变异可能增加结肠型CD的发病风险，但在回肠受累的CD患者中可能发挥保护作用。VEGF基因rs3025039位点的纯合子变异基因型（TT）携带者中非狭窄非穿透型CD的发病风险可能降低。
Objectives To assess the association of vascular endothelial growth factor （VEGF） gene polymorphisms with susceptibility to Crohn＇s disease （CD） in a Chinese population. Methods For 275 CD patients and 495 controls, the genotypes of VEGF gene rs699947 and rs3025039 loci were determined with a SNaPshot method. Results The allelic and genotypic frequencies of the rs699947 and rs3025039 loci did not differ between the two groups （all P〉0.05）. By stratification analysis, allele A and genotype CA＋ AA of rs699947 were more frequent in patients with colonic CD compared with the controls （P = 0. 006, 95 %CI： 1. 143-2. 234; P=0. 005, 95%CI： 1. 203-2. 900, respectively）. Compared with the controls, the allele A and genotype CA＋AA of rs699947 were less frequent in patients with ileal lesions including ileal CD and ileocolonic CD （P=0. 033, 95%CI： 0. 524-0. 974; P=0. 043, 95%CI： 0.481 0. 989, respectively）. The frequency of TT homozygote of rs3025039 was lower in patients with non stricturing and non-penetrating CD compared with the controls （P= 0. 036, 95%CI： 0. 016-0. 870）. Conclusion Polymorphisms of the VEGF gene rs699947 locus may contribute to an increased risk for colonic CD, but may play a protective rolein patients with ileal lesion. Individuals carrying the TT genotype for VEGF rs3025039 locus may be less susceptible to non-stricturing and non-penetrating CD.
作者
裴继华
俞俐琴
夏宣平
夏盛隆
林秀清
金捷
蒋益
Pei Jihua , Yu Liqin , Xia Xuanping , Xia Shenglong , Lin Xiuqing , Jin Jie , Jiang Yi(Department of Gastroenterology, the Second Affiliated Hospital; Department of Gastroenterology, the First Affiliated Hospital ; Wenzhou Medical University, Wenzhou, Zhejiang 325000, China; Department of Infectious Disease, People＇ s Hospital of Wenzhou City, Wenzhou , Zhejiang 325000, China ; Department of Gastroenterology, Central Hospital of Wenzhou , Wenzhou , Zhejiang 325000, Chin)
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第4期582-586,共5页
Chinese Journal of Medical Genetics
基金
浙江省自然科学基金（LY14H030012、LY15H030018、LY16H160055、LY17H030011）
浙江省卫生厅资助项目（2012KYA132）
温州市科技局资助项目（Y20150157）
关键词
克罗恩病
血管内皮生长因子
基因
多态性
Crohn＇ s disease
Vascular endothelial growth factor
Gene
Polymorphism
