PLCE1基因与青海回族胃癌风险的相关研究

发布时间：2018-04-19 19:08

本文选题：胃癌癌(GC) + 单核苷酸多态性(SNP)　；参考：《青海大学》2016年硕士论文

【摘要】：胃癌(Gastric cancer,GC)是加重全球癌症负担的一个主要因素所在。全世界范围内,胃癌的死亡率在男性与女性患者中占所有肿瘤相关性死亡的第三位、第四位。最早三篇有关基因磷脂酶Cε1(phospholipase C epsilon 1,PLCE1)与我国胃癌人群的GWAS(Genome Wide Association Study,全基因组关联研究)。该基因编码的蛋白属于磷脂酶C(phospholipase C,PLC)家族成员,它能够催化多磷酸肌醇,水解产生1,4,5-三磷酸以及二酰甘油,产物可以作为第二信使参与到细胞的生长和分化。通过对PLCE1与胃癌间关系的深入研究,很可能为胃癌的诊断提供新依据。于此同时,明确PLCE1对胃癌的作用将为胃癌高危人群的筛查以及易感人群的预防提供理论基础。目前,PLCE1已经吸引了肿瘤界众多研究者的目光,已然成为该领域研究的一个热点。目的:本研究皆在探讨人磷脂酶Cε1(PLCEl)基因rs2274223(A/G)位点的单核苷酸多态性(single nucleotide ploymorphisms,SNP)与胃癌之间的关系,为胃癌高危人群筛查、早期诊断、治疗以及制定个体化预防措施等提供了一系列的遗传学参考依据。方法:通过病例对照研究方法,收集2012年8月至2015年8月间就诊于青海大学附属医院的114例回族胃癌患者的病例资料,并作为病例组,同时按照性别、年龄进行1:1匹配,选择同期在我院体检的健康回族人群157例,作为对照组;采用基质质谱仪(MALDI-TOF MS)技术对PLCE1基因rs2274223位点的基因型进行检测,分析该位点基因型在回族人群中的分布情况以及其在两组间分布的差异。使用SPSS19.0软件对病例组和对照组数据进行统计学处理,检验对比胃癌组与对照组间基本情况的差异,包括性别、年龄、肿瘤家族史以及吸烟与饮酒状况等,然后运用卡方检验的方法行Hardy-Weinberg平衡性检验,继续运用χ2检验对病例组与对照组间rs2274223位点的基因型与等位基因进行分析。结果:1)PLCE1基因rs2274223(A/G)等位基因包括三种分型,分别为AA、AG和GG。2)胃癌组中,PLCE1基因rs2274223位点上AA、AG、GG以及AG+GG基因型出现的频率分别是46.5%,47.1%,6.4%和53.5%。在正常对照组中相应的频率为57.0%,33.3%,9.7%和43.0%。病例组与对照组分析比较发现基因型AG,GG,AA三种基因型在两组间的分布差异不具有统计学意义(P0.05);与野生纯合型AA相比而言,包括突变点在内的所有基因型AG+GG在两组间分布差异无统计学意义(P0.05);等位基因间比较,A与G在两组间分布也无统计学意义上差异3)(P0.05).结论:PLCE1基因rs2274223位点与青海地区回族胃癌的发病无明显相关性。
[Abstract]:Gastric cancer is a major contributor to the global cancer burden. Worldwide, the mortality rate of gastric cancer is the third and fourth of all tumor-related deaths among male and female patients. The first three studies on the gene phospholipase C 蔚 1(phospholipase C epsilon 1 PLCE1 and GWAS(Genome Wide Association study in Chinese gastric cancer population were reported. The protein encoded by this gene belongs to the family of phospholipase C(phospholipase, which can catalyze inositol polyphosphoate, hydrolyze and produce 1k4m4-triphosphate and diacylglycerol. The product can participate in the growth and differentiation of cells as a second messenger. Further study on the relationship between PLCE1 and gastric cancer may provide a new basis for the diagnosis of gastric cancer. At the same time, clarifying the effect of PLCE1 on gastric cancer will provide theoretical basis for screening and prevention of high risk population of gastric cancer. At present, PLCE1 has attracted the attention of many cancer researchers and has become a hot spot in this field. Objective: to investigate the relationship between single nucleotide morphismsNPs (SNPs) at rs2274223A / G / G locus of human phospholipase C 蔚 1a PLCElgene and gastric cancer, so as to screen for early diagnosis of gastric cancer in high risk population. Treatment and individualized preventive measures provide a series of genetic references. Methods: from August 2012 to August 2015, 114 patients with gastric cancer of Hui nationality who were admitted to the affiliated Hospital of Qinghai University were collected by a case-control study and used as a case group. The data were matched at 1:1 according to sex and age. A total of 157 healthy Hui people who were examined in our hospital at the same time were selected as control group. The genotypes of rs2274223 locus of PLCE1 gene were detected by matrix mass spectrometer (MALDI-TOF MS) technique. The distribution of this locus genotype in the Hui population and its difference between the two groups were analyzed. The data of case group and control group were statistically processed with SPSS19.0 software, and the differences between gastric cancer group and control group were examined and compared, including sex, age, family history of cancer, smoking and drinking, etc. Then the Hardy-Weinberg equilibrium test was performed by chi-square test, and the genotypes and alleles of rs2274223 locus were analyzed by 蠂 2 test. Results the alleles of rs2274223A- / GG of the 1: 1 + PLCE1 gene included three kinds of genotypes, namely, AAG AG and G G. 2) in gastric cancer group, the frequencies of rs2274223 locus and AGGG genotypes were 46.5% and 53.5%, respectively. In the normal control group, the corresponding frequencies were 57.0% and 43.0% respectively. It was found that there was no significant difference in the distribution of the three genotypes between the two groups, and compared with wild homozygous AA, there was no significant difference in the distribution of the three genotypes between the case group and the control group. There was no significant difference in the distribution of AG GG between the two groups, and there was no significant difference in the distribution of alleles A and G between the two groups. Conclusion there is no significant correlation between the rs2274223 locus of the 1: PLCE1 gene and the incidence of gastric cancer of Hui nationality in Qinghai area.
【学位授予单位】：青海大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R735.2

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