Silva Filipe, Carvalho Filipa, Peixoto António, Teixeira Ana, Almeida Raquel, Reis Celso, Bravo Luis Eduardo, Realpe Luis, Correa Pelayo, David Leonor
1Institute of Molecular Pathology and Immunology of the University of Porto, IPATIMUP, Porto, Portugal.
Eur J Hum Genet. 2003 May;11(5):380-4. doi: 10.1038/sj.ejhg.5200978.
Gastric cancer (GC) stands as the second most common cause of cancer death for males worldwide, and intestinal metaplasia (IM) is a lesion that precedes GC development. In previous works it was shown that polymorphisms of MUC1 gene are associated with increased risk for GC and IM. The aim of the present study was to evaluate MUC1 gene polymorphism in patients with chronic gastritis from Colombia. A Portuguese population of patients with chronic gastritis was used for comparative purposes. A total of 67 Colombian cases and 52 Portuguese cases were analysed by restriction analysis and Southern blotting. MUC1 allele frequencies were significantly different between the two populations, with an overall prevalence of smaller alleles in Colombian samples. Colombian cases showed a lower prevalence of individuals homozygous for small MUC1 mucins in cases without IM (62.5%) when compared with cases with IM (86.0%). The same trend, although not statistically significant, is observed in the Portuguese population. In conclusion, our study shows that Colombian patients with chronic gastritis have a significantly higher prevalence of small MUC1 alleles than the Portuguese population. Our study also shows that small MUC1 genotypes are associated with increased risk for IM development in Colombian patients.
胃癌(GC)是全球男性癌症死亡的第二大常见原因,而肠化生(IM)是胃癌发生之前的一种病变。在以往的研究中表明,MUC1基因的多态性与胃癌和肠化生风险增加有关。本研究的目的是评估哥伦比亚慢性胃炎患者的MUC1基因多态性。将一组葡萄牙慢性胃炎患者用于比较目的。通过限制性分析和Southern印迹法对67例哥伦比亚患者和52例葡萄牙患者进行了分析。两个群体之间的MUC1等位基因频率存在显著差异,哥伦比亚样本中小等位基因的总体患病率更高。与有肠化生的病例(86.0%)相比,哥伦比亚无肠化生病例中MUC1粘蛋白小等位基因纯合个体的患病率较低(62.5%)。在葡萄牙人群中也观察到相同趋势,尽管无统计学意义。总之,我们的研究表明,哥伦比亚慢性胃炎患者中MUC1小等位基因的患病率显著高于葡萄牙人群。我们的研究还表明,MUC1小基因型与哥伦比亚患者发生肠化生的风险增加有关。