RASSF1基因SNP与陕西地区结直肠癌发病风险关系的研究

Correlation between single nucleotide polymorphism of RASSF1 gene and the risk of colorectal carcinoma(CRC)in Shaanxi China

目的:探讨RASSF1基因第三外显子G133T和第六外显子A315G单核苷酸多态性(SNP)与陕西地区汉族人群结直肠癌(CRC)易感性的关系。方法:采用基于人群的病例对照研究,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测61例CRC和122例健康对照个体RASSF1基因多态位点的基因型频率分布,比较不同基因型与CRC发生风险的关系。结果:RASSF1基因G133T多态的T等位基因频率在CRC患者组为24.6%,显著高于健康对照组的6.1%(P=0.00)。与G/G基因型相比,携带G/T基因型的个体CRC的发病风险显著增加,经性别、年龄、吸烟状况、GIC家族史校正后的OR值为2.33(95%CI=1.05-5.15)。RASSF1基因A315G多态的G等位基因频率在CRC患者组为25.4%,显著高于健康对照组的11.9%(P=0.00)。根据个体吸烟状况进行分层分析发现,与A/A基因型相比,携带A/G基因型和G等位基因(A/G+G/G基因型)可显著增加吸烟个体CRC的发病风险,经性别、年龄、GIC家族史校正后的OR值为4.5(95%CI=1.65-12.28)。根据GIC家族史进行分层分析发现,与A/A基因型相比,携带A/G基因型或G等位基因(A/G+G/G基因型)可显著增加GIC家族史阳性个体CRC的发病风险,经性别、年龄、吸烟状况校正后的OR值为3.78(95%CI=1.39-10.19)。结论:携带RASSF1基因G133T多态的T等位基因(G/T+T/T基因型)可能显著增加陕西地区人群CRC的发病风险。携带RASSF1基因A315G多态的G等位基因(A/G+G/G基因型)可能显著增加陕西地区人群CRC的发病风险。分层分析发现,G等位基因(A/G+G/G基因型)可能显著增加吸烟个体和GIC家族史阳性个体CRC的发病风险。

Objective：To investigate the correlation between single nucleotide polymorphisms（SNPs）,G133T and A315G of RASSF1 gene and susceptibilities of CRC in shaanxi Han population.Methods：This population-based case-control study included 61 CRC and 122 healthy controls.Polymorphisms of RASSF1 gene was analyzed by PCR-restriction fragment length polymorphism analysis（RFLP）.Results：Frequencies of the RASSF1 G133T T allele in CRC patients was 24.6%,which was significantly higher than that in healthy controls（6.1%）（P=0.00）.Compared with individuals with the G/G genotype,individuals with the G/T genotype had significantly higher risk to develop CRC（age,gender,smoking status and family history of GIC adjusted OR=2.33,95%CI=1.05-5.15）.Frequencies of the RASSF1 A315G G allele in CRC patients was 25.4%,which was significantly higher than that in healthy controls（11.9%）（P=0.00）.When stratified by smoking status,compared with individuals with the A/A genotype,individuals with A/G genotype or G allele（A/G＋G/G genotype）had significantly higher risk in developing CRC（age,gender,family history of GIC adjusted OR=4.5 95%CI=1.65-12.28）.When stratified by family history of GIC,compared with individuals with A/G genotype or G allele（A/G＋G/G genotype）in the group with family history of GIC had significantly higher risk in developing CRC（age,gender,smoking status adjusted OR=3.78 95%CI=1.39-10.19）.Conclusion：T allele（G/T＋T/T genotype）of RASSF1 G133T SNP significantly increased the risk to developing CRC.G allele（A/G＋G/G genotype）of RASSF1 A315G SNP significantly increased the risk of developing CRC.After stratified,individuals with G allele（A/G＋G/G genotype）in the group with smoke and with family history of GIC had higher risk in developing CRC.