维生素D结合蛋白基因多态性与结直肠癌的相关性研究

目的 探讨大连市汉族人群维生素D结合蛋白(VDBP)基因的2个单核苷酸多态性(SNP)位点rs4588和rs7041与结直肠癌(CRC)易感性的关系.方法 选择2015年1月至12月大连医科大学附属第一医院收治的120例汉族CRC患者作为研究对象,纳入CRC组.采用简单随机抽样法选择同期于大连市血液中心无偿献血的127例汉族健康献血者纳入对照组.采用TaqMan-MGB探针实时荧光PCR技术对受试者全血提取DNA样本的rs4588和rs7041位点进行扩增.采用x2检验统计学方法比较2组受试者VDBP基因rs4588和rs7041位点各基因型及等位基因频率分布的差异.本研究遵循的程序符合大连血液中心人体实验委员会制定的伦理学标准,得到该委员会批准.结果 ①经Hardy-Weinberg遗传平衡检验,CRC组和对照组rs7041和rs4588位点基因型分布均符合Hardy-Weinberg遗传平衡定律(CRC组:x2 =2.13、1.64,对照组:x 2=0.70、1.32;P＞0.05).②CRC组患者VDBP基因rs7041位点的TT基因型频率、GT基因型频率、GG基因型频率、T等位基因频率及G等位基因频率分别为45.0％、48.3％、6.7％、69.2％及30.8％,对照组分别为52.8％、41.7％、5.5％、73.6％及26.4％;2组rs7041位点基因型频率及等位基因频率分别比较,差异均无统计学意义(x2=1.491、1.201,P＞0.05).③CRC组患者VDBP基因rs4588位点的CC基因型频率、AC基因型频率、AA基因型频率、C等位基因频率及A等位基因频率分别为44.2％、48.3％、7.5％、68.3％及31.7％,对照组分别为44.9％、50.3％、4.7％、70.1％及29.9％;2组rs4588位点基因型频率及等位基因频率分别比较,差异亦均无统计学意义(x2=0.843、0.176,P＞0.05).结论 本研究未发现大连地区汉族人群VDBP基因rs7041和rs4588位点的SNP与CRC易感性相关.

Correlation analysis between gene polymorphism of vitamin D binding protein gene and colorectal cancer

Objective To explore the association between single nucleotide polymorphisms (SNP) of rs4588 and rs7041 on vitamin D binding protein(VDBP)gene and susceptibility of colorectal cancer (CRC) patients in Dalian Han population.Methods From January to December 2015,a total of 120 CRC patients of Han population in the First Affiliated Hospital of Dalian Medical University were included in this study as CRC group.And a total of 127 unrelated healthy blood donors of Han population in Dalian Blood Center were selected in control group by simple random sampling method.The DNA of the whole blood samples were extracted and then the SNP of rs7041 and rs4588 at VDBP gene were genotyped by real-time PCR technique with TaqMan-MGB probe.Statistical analysis were performed to evaluate the differences of gene frequencies of rs7041 and rs4588 between CRC group and control group by Chi-square test.Results ① Genotype frequencies of rs7041 and rs4588 accorded with the Hardy-Weinberg equilibrium among CRC and control groups (CRC group:x2 =2.13,1.64;control group:x2 =0.70,1.32;P＞0.05).② The gene frequencies of TT,GT and GG and the allele frequencies of T and G at rs7041 in CRC group were 45.0％,48.3％,6.7％,69.2％ and 30.8％,respectively.And those of control group were 52.8％,41.7％,5.5％,73.6％ and 26.4％,respectively.There were no significant differences in the alleles and genotype frequencies distribution for rs7041 between the CRC group and control group (-x2 =1.49,1.20;P＞0.05).③The gene frequencies of TT,GT and GG and the allele frequencies of T and G at rs4588 in CRC group were 44.2％,48.3％,7.5％,68.3％ and 31.7％,respectively.And those of control group were 44.9 ％,50.3 ％,4.7 ％,70.1％ and 29.9 ％,respectively.There were no significant differences in the alleles and genotype frequencies distribution for rs4588 between the CRC group and control group (x2=0.84,0.18,P＞0.05).The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Dalian Blood Center.Informed consent was obtained from all participants.Conclusion No association has been found between the SNP of rs7041 and rs4588 at VDBP gene and the susceptibility of CRC in Dalian Chinese Han population in this study.