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 groupReportar como inadecuado




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 - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Genomic Medicine

, Volume 1, Issue 1–2, pp 57–63

First Online: 25 May 2007Received: 18 December 2006Accepted: 02 May 2007DOI: 10.1007-s11568-007-9007-4

Cite this article as: Pilger, D.A., Lopez, P.L

C., Segal, F. et al. HUGO J 2007 1: 57. doi:10.1007-s11568-007-9007-4

Abstract

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.

KeywordsPolymorphism p53 Esophagus AbbreviationsBEBarrett’s esophagus

IMCintestinal metaplasia of the cardia

TP53p53 gene

LOHloss of heterozygosity

GERDgastroesophageal reflux disease

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Autor: Diogo André Pilger - Patrícia Luciana da Costa Lopez - Fábio Segal - Sandra Leistner-Segal

Fuente: https://link.springer.com/







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