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首页> 外文期刊>Clinics and research in hepatology and gastroenterology >Glutathione S-transferase gene polymorphisms in celiac disease and their correlation with genomic instability phenotype
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Glutathione S-transferase gene polymorphisms in celiac disease and their correlation with genomic instability phenotype

机译：乳糜泻中谷胱甘肽S-转移酶基因多态性及其与基因组不稳定性表型的相关性

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Background and objective: Genomic instability and reduced glutathione S-transferase (GST) activity have been identified as potential risk factors for malignant complications in celiac disease (CD). In this study, we assessed the possible influence of GST polymorphisms on genome instability phenotypes in a genetically characterised group of celiac patients from previous studies. Methods: The deletion polymorphisms in GSTM1 and GSTT1 genes and the single-nucleotide polymorphism GSTP1 c.313A>G were genotyped using PCR in a set of 20 untreated adult patients with a known genomic instability phenotype and 69 age- and sex-matched healthy individuals. Results: The frequencies of variant genotypes in patients were GSTM1-null (30%), GSTT1-null (5%), GSTP1-AG (60%) and GSTP1-GG (15%), and they showed no differences from controls. No significant differences were found in the genotype distribution based on telomere length. Cases with GSTM1-null genotype (83%) and microsatellite stability were more frequent than those with genomic instability. Moreover, carriers of GSTP1-variant genotype (73%) and stable phenotype were significantly increased compared to unstable patients (27%) (P=0.031). No differences were found according to the clinical-pathological characteristics of celiac cases. Conclusions: No association between GST polymorphic variants and celiac-associated genomic instability was proven in our cohort. Future studies should explore the usefulness of other biomarkers to distinguish celiac patients who are susceptible to cancer development.
机译：背景与目的：基因组不稳定和谷胱甘肽S-转移酶（GST）活性降低已被确定为乳糜泻（CD）恶性并发症的潜在危险因素。在这项研究中，我们评估了GST多态性对来自先前研究的一组具有遗传特征的乳糜泻患者的基因组不稳定性表型的可能影响。方法：采用PCR技术对20例已知基因组不稳定表型的未经治疗的成年患者和69名年龄和性别匹配的健康个体进行基因分型，分别对GSTM1和GSTT1基因的缺失多态性和单核苷酸多态性GSTP1 c.313A> G进行基因分型。 。结果：患者的变异基因型频率为GSTM1无效（30％），GSTT1无效（5％），GSTP1-AG（60％）和GSTP1-GG（15％），与对照组无差异。在基于端粒长度的基因型分布中未发现显着差异。具有GSTM1空基因型（83％）和微卫星稳定性的病例比具有基因组不稳定的病例更为常见。此外，与不稳定患者（27％）相比，GSTP1变异基因型（73％）和稳定表型的携带者显着增加（P = 0.031）。根据乳糜泻的临床病理特征未发现差异。结论：在我们的队列研究中，未证明GST多态性变异与乳糜泻相关基因组不稳定性之间存在关联。未来的研究应该探索其他生物标记物对区分易患癌症的乳糜泻患者的有用性。

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