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基质溶解素-1(rs3025058)启动子多态性的杂合性与胃癌相关。

Heterozygosity of stromelysin-1 (rs3025058) promoter polymorphism is associated with gastric cancer.

作者信息

Krishnaveni D, Bhayal A C, Shravan K P, Jyothy A, Pratibha N, Venkateshwari A

机构信息

Department of Cell Biology, Institute of Genetics and Hospital for Genetic Diseases, Hyderabad, India.

出版信息

Indian J Cancer. 2015 Apr-Jun;52(2):251-4. doi: 10.4103/0019-509X.175806.

Abstract

BACKGROUND

Gastric cancer (GC) is the third most common cancer in India and is mediated by multiple genetic, epigenetic and environmental risk factors. A single nucleotide polymorphism rs3025058 at -1171 of the stromelysin-1 (matrix metalloproteinase [MMP]-3) promoter is resulting due to insertion/deletion of adenine thought to have an impact on increasing the risk for tumor formation.

AIM

This study is aimed to understand the role of stromelysin-1 rs3025058 (-1171, 5A/6A) promoter polymorphism in the etiology of GC in Indian population.

MATERIALS AND METHODS

Genomic DNA was isolated from blood samples of the GC patients and controls. The genotyping of stromelysin-1 rs3025058 (-1171, 5A/6A) promoter polymorphism was carried out by amplification refractory mutation system-polymerase chain reaction method followed by agarose gel electrophoresis.

RESULTS

The frequency of 5A/5A, 5A/6A, and 6A/6A genotypes in GC patients were 7.69%, 76.92%, and 15.38%, while in controls were 5.31%, 86.73%, and 7.96%, respectively. There was a significant difference in the distribution of 5A/6A genotype in patients compared to the controls (P < 0.05).

CONCLUSION

This study showed an increased frequency of heterozygotes for stromelysin-1 rs3025058 and thought to be involved in the etiology of GC.

摘要

背景

胃癌(GC)是印度第三大常见癌症,由多种遗传、表观遗传和环境风险因素介导。基质金属蛋白酶-1(MMP-3)启动子-1171处的单核苷酸多态性rs3025058是由于腺嘌呤的插入/缺失导致的,被认为会增加肿瘤形成的风险。

目的

本研究旨在了解基质金属蛋白酶-1 rs3025058(-1171,5A/6A)启动子多态性在印度人群胃癌病因中的作用。

材料与方法

从胃癌患者和对照组的血液样本中分离基因组DNA。采用扩增阻滞突变系统-聚合酶链反应方法,随后进行琼脂糖凝胶电泳,对基质金属蛋白酶-1 rs3025058(-1171,5A/6A)启动子多态性进行基因分型。

结果

胃癌患者中5A/5A、5A/6A和6A/6A基因型的频率分别为7.69%、76.92%和15.38%,而对照组分别为5.31%、86.73%和7.96%。与对照组相比,患者中5A/6A基因型的分布存在显著差异(P<0.05)。

结论

本研究表明基质金属蛋白酶-1 rs3025058杂合子频率增加,且认为其与胃癌病因有关。

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