摘要
目的探讨肿瘤坏死因子相关凋亡诱导配体（TRAIL）基因多态性及血浆可溶性TRAIL（sTRAIL）水平与溃疡性结肠炎（UC）的关系。方法2004年5月至2011年4月温州医学院附属第二、第一医院和温州市第二人民医院共收集393例UC患者，同期在温州医学院附属第二医院体检中心收集1292名健康个体作为对照组。采用直接测序法检测TRAIL（G1525A、G1588A、C1595T）等位基因及基因型，并做单倍型分析；用酶联免疫吸附试验（ELISA）检测血浆sTRAIL水平。结果UC组中TRAIL（G1525A、G1588A、C1595T）突变基因型（GA＋AA、GA＋AA、CT＋TT）频率均明显低于对照组（均P〈0．01）；TRAIL（G1525A、G1588A）突变等位基因（A、A）及其频率亦均低于对照组[（40．08％（315／786）比54．95％（1420／2584）、49．49％（389／786）比55．53％（1435／2584），均P〈0．01]，而TRAILC1595T突变等位基因T频率在两组之间差异无统计学意义（P=0．133）。按病情严重程度分组，重度UC组中TRAILC1595T突变等位基因T和基因型CT＋TT频率明显高于轻中度UC患者[63．50％（127／200）比49．15％（288／586）、77．00％（77／100）比61．43％（180／293），均P〈0．01]。单倍型分析发现UC组中GAT单倍型频率明显高于对照组，AAT单倍型频率明显低于对照组（均P〈0．01）。UC组中血浆sTRAIL水平明显高于对照组[（1．1±0．5）比（1．0±0．9）ng／L，P〈0．01]。结论TRAIL（G1525A、G1588A、C1595T）基因多态性及血浆sTRAIL水平与UC相关。
Objective To explore the correlations of genetic polymorphisms in tumor necrosis factor-related apoptosis-inducing ligand （TRAIL） gene and the plasma levels of soluble Trail （sTRAIL） with ulcerative colitis （UC）. Methods From May 2004 to April 2011, a total of 393 UC patients were recruited from Second and First Affiliated Hospitals of Wenzhou Medical College and Second Renmin Hospital of Wenzhou City. During the same period, a total of 1292 healthy controls were recruited from Physical Examination Center at Second Affiliated Hospital of Wenzhou Medical College. After PCR amplification, the genetic polymorphisms in TRAIL （G1525A, G1588A, C1595T） genes were examined by direct sequencing, and the haplotype analysis were also performed in all study subjects. Furthermore, the plasma levels of sTRAIL were determined by enzyme-linked immunosorbent assay （ELISA）. Results The frequencies of variant genotypes in TRAIL （G1525A, G1588A, C1595T） genes were significantly lower in the UC patients than those in the controls （ all P 〈 0. 01 ）. Both of variant allele frequencies in TRAIL G1525A and G1588A were significantly decreased in UC patients （40. 08% （ 315/786 ） vs 54. 95% （ 1420/2584）, 49.49% （389/786） vs 55.53% （ 1435/2584 ）, both P 〈 0. 01 ）. However, the variant allele frequency in TRAIL C1595T gene was not significantly lower in the UC patients （P = 0. 133 ）. According to disease severity, the UC patients were divided into mild, intermediate and severe groups. The frequencies of variant allele （T） and genntype （ CT ＋ TT） in TRAIl, C7595T gene were also significantly higher in the patients with severe UC than those in others （63.50% （727/200） vs 49. 15% （288/586）, 77.00% （77/100） vs 67.43% （180/293）, both P 〈 0.01 ）. 7n haplotype analysis, the frequency of GAT haplotype was significantly higher in the UC patients than that in the controls. However, the frequency of AAT haplotype was significantly lower in the UC patients （ both P
出处
《中华医学杂志》
CAS
CSCD
北大核心
2012年第18期1244-1248,共5页
National Medical Journal of China
基金
温州市科技局资助项目（Y20080110）
