Devulapalli Krishnaveni, Bhayal Amar Chand, Porike Shravan Kumar, Macherla Ramanna, Akka Jyothy, Nallari Pratibha, Ananthapur Venkateshwari
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Andhra Pradesh, India.
Saudi J Gastroenterol. 2014 Sep-Oct;20(5):309-14. doi: 10.4103/1319-3767.141693.
BACKGROUND/AIMS: Gastric cancer (GC) is a multifactorial disorder mediated by genetic, epigenetic, and environmental risk factors. GC is the most common cancer in India and it is the third prominent cause of cancer death worldwide. A single nucleotide polymorphism (SNP) in the promoter region of interstitial collagenase (MMP-1) gene appears to have an impact on the transcriptional activity and regulation of its expression. Hence, the present study is aimed to evaluate the role of interstitial collagenase gene-1607 1G/2G (rs1799750) promoter polymorphism in the etiology of GC.
The study included 166 GC patients and 202 control subjects. Genomic DNA was isolated from whole blood samples of the subjects, and the genotyping of interstitial collagenase promoter polymorphism was carried out by polymerase chain reaction-restriction fragment length polymorphism method followed by agarose gel electrophoresis. Appropriate statistical methods were applied to test the significance of the results.
The risk factor profile of the patients revealed that male gender, age above 50 years, addiction to alcohol and smoking were the most common risk factors (P < 0.05). There was a significant difference in the distribution of 2G/2G genotype (2G/2G vs. 1G/1G, P = 0.016) and 1G/2G genotype (2G/2G + 1G/2G vs. 1G/1G, P = 0.010) in patient group compared with that of the control subjects.
The present study provides indirect evidence for the role of interstitial collagenase gene 1G/2G promoter polymorphism in the etiology of GC in South Indian population.
背景/目的：胃癌（GC）是一种由遗传、表观遗传和环境风险因素介导的多因素疾病。胃癌是印度最常见的癌症，也是全球癌症死亡的第三大主要原因。间质胶原酶（MMP-1）基因启动子区域的单核苷酸多态性（SNP）似乎对其转录活性和表达调控有影响。因此，本研究旨在评估间质胶原酶基因-1607 1G/2G（rs1799750）启动子多态性在胃癌病因中的作用。
本研究纳入了166例胃癌患者和202例对照受试者。从受试者的全血样本中分离基因组DNA，采用聚合酶链反应-限制性片段长度多态性方法，随后进行琼脂糖凝胶电泳，对间质胶原酶启动子多态性进行基因分型。应用适当的统计方法检验结果的显著性。
患者的危险因素分析显示，男性、50岁以上、酗酒和吸烟是最常见的危险因素（P < 0.05）。与对照组相比，患者组中2G/2G基因型（2G/2G与1G/1G相比，P = 0.016）和1G/2G基因型（2G/2G + 1G/2G与1G/1G相比，P = 0.010）的分布存在显著差异。
本研究为间质胶原酶基因1G/2G启动子多态性在南印度人群胃癌病因中的作用提供了间接证据。
