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EGFR 基因外显子多态性、生活方式与中国汉族人群胃癌风险的性别差异关联。

Association among polymorphisms in EGFR gene exons, lifestyle and risk of gastric cancer with gender differences in Chinese Han subjects.

机构信息

Discipline of Chinese and Western Intergrative Medicine, College of Basic Medicine, Nanjing University of Chinese Medicine, Nanjing, China.

出版信息

PLoS One. 2013;8(3):e59254. doi: 10.1371/journal.pone.0059254. Epub 2013 Mar 29.

DOI:10.1371/journal.pone.0059254
PMID:23555641
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3612075/
Abstract

BACKGROUND

The epidermal growth factor receptor (EGFR) gene plays a key role in tumor survival, invasion, angiogenesis, and metastatic spread. Recent studies showed that gastric cancer (GC) was associated with polymorphisms of the EGFR gene and environmental influences, such as lifestyle factors. In this study, seven known SNPs in EGFR exons were investigated in a high-risk Chinese population in Jiangsu province to test whether genetic variants of EGFR exons and lifestyle are associated with an increased risk of GC.

METHODOLOGY/PRINCIPAL FINDINGS: A hospital-based case-control study was performed in Jiangsu province. The results showed that smoking, drinking and preference for salty food were significantly associated with the risk of GC. The differences of lifestyle between males and females might be as the reason of higher incidence rates in males than those in females. Seven exon SNPs were genotyped rs2227983,rs2072454,rs17337023,rs1050171,rs1140475, rs2293347, and rs28384375. It was noted that the variant rs2072454 T allele and TT genotype were significantly associated with an increased risk of GC. Interestingly, our result suggested the ACAGCA haplotype might be associated with decreased risk of GC. However, no significant association was examined between the other six SNPs and the risk of GC both in the total population and the age-matching population even with gender differences.

CONCLUSIONS

Smoking, drinking and preference for salty food were significantly associated with the risk of GC in Jiangsu province with gender differences. Although only one SNP (rs2072454) was significantly associated with an increased risk of GC, combined the six EGFR exon SNPs together may be useful for predicting the risk of GC.

摘要

背景

表皮生长因子受体(EGFR)基因在肿瘤的生存、侵袭、血管生成和转移扩散中起着关键作用。最近的研究表明,胃癌(GC)与 EGFR 基因的多态性和环境影响(如生活方式因素)有关。在这项研究中,我们在江苏省的高危人群中研究了 EGFR 外显子中的七个已知 SNP,以测试 EGFR 外显子的遗传变异和生活方式是否与 GC 风险增加有关。

方法/主要发现:在江苏省进行了一项基于医院的病例对照研究。结果表明,吸烟、饮酒和偏爱咸食与 GC 风险显著相关。男女之间生活方式的差异可能是男性 GC 发病率高于女性的原因。对七个外显子 SNP(rs2227983、rs2072454、rs17337023、rs1050171、rs1140475、rs2293347 和 rs28384375)进行了基因分型。值得注意的是,变体 rs2072454 的 T 等位基因和 TT 基因型与 GC 风险增加显著相关。有趣的是,我们的结果表明,ACAGCA 单倍型可能与 GC 风险降低相关。然而,在总人群和年龄匹配人群中,即使存在性别差异,其他六个 SNP 与 GC 风险之间也没有显著关联。

结论

在江苏省,吸烟、饮酒和偏爱咸食与 GC 风险显著相关,且存在性别差异。尽管只有一个 SNP(rs2072454)与 GC 风险增加显著相关,但将六个 EGFR 外显子 SNP 联合起来可能有助于预测 GC 风险。

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