食管炎、贲门肠化生和Barrett食管患者中p53基因R213R和13494 g- >a多态性与对照组比较

IF 3.5 Q1 EDUCATION & EDUCATIONAL RESEARCH
Genomic medicine Pub Date : 2007-01-01 Epub Date: 2007-05-25 DOI:10.1007/s11568-007-9007-4
Diogo André Pilger, Patrícia Luciana da Costa Lopez, Fábio Segal, Sandra Leistner-Segal
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引用次数: 13

摘要

p53蛋白是参与细胞周期控制和细胞凋亡的肿瘤抑制因子。据报道,p53有几个多态性可以影响肿瘤抑制蛋白活性的重要区域。在描述的多态性中,R213R和13949g ->a很少被研究,巴西人群的估计频率尚未获得。本研究的目的是调查巴西南部食管组织改变患者的基因型和等位基因频率以及这些多态性的相关性,并与对照人群的频率进行比较。本研究共纳入35例R213R患者和45例13494 g- >基因多态性分析,这些患者均为胃食管反流病(GERD)症状,经上消化道内镜诊断并活检证实。两组均采用100例对照进行比较。我们还分析了一组正常组织和受影响组织的患者的杂合性缺失(LOH)。在分析的两个杂合样本中,有一名巴雷特食管(BE)患者的R213R显示LOH,两名患者(食管炎和BE)的13494 g- >多态性。我们还旨在为这两种多态性构建一个单倍型,并与我们小组先前报道的R27P多态性一起分析。患者与对照组的等位基因和基因型分布无显著差异。虽然使用食管炎、贲门肠化生和BE样本,所有非肿瘤性病变,我们可以得出结论,这些部位并不代表GERD发展和早期进展为BE和食管癌的遗传易感性标记。为了调查已知易患食管癌的早期癌前病变的其他决定因素,还需要进一步的研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group.

Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group.

Protein p53 is the tumor suppressor involved in cell cycle control and apoptosis. There are several polymorphisms reported for p53 which can affect important regions involved in protein tumor suppressor activity. Amongst the polymorphisms described, R213R and 13949 g-->a are rarely studied, with an estimate frequency not yet available for the Brazilian population. The purpose of this study was to investigate the genotype and allele frequencies and associations of these polymorphisms in a group of patients with altered esophageal tissue from South Brazil and compare with the frequency observed for a control population. A total of 35 patients for R213R and 45 for 13494 g-->a polymorphisms analysis with gastroesophageal reflux disease (GERD) symptoms diagnosed by upper digestive endoscopy and confirmed by biopsy were studied. For both groups, 100 controls were used for comparison. Loss of heterozygosity (LOH) was also analyzed for a selected group of patients where normal and affected tissue was available. There was one patient with Barrett's Esophagus (BE) showing LOH for R213R out of two heterozygous samples analyzed and two patients (esophagitis and BE) for 13494 g-->a polymorphism. We also aimed to build a haplotype for both polymorphisms collectively analyzed with R27P polymorphism, previously reported by our group. There were no significant differences in allele and genotype distribution between patients and controls. Although using esophagitis, intestinal metaplasia of the cardia and BE samples, all non-neoplastic lesions, we can conclude that these sites do not represent genetic susceptibility markers for the development and early progression of GERD to BE and esophageal cancer. Additional studies are required in order to investigate other determiners of early premalignant lesions known to predispose to esophageal cancer.

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