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目的探讨二磷酸尿苷葡萄糖苷转移酶(UGT)1A7基因第1外显子3处单核苷酸多态性与国人结直肠癌(CRC)的相关性,及其在我国自然人群中的分布频率。方法采用人群为基础的成组匹配病例对照研究,以半巢式聚合酶链反应(PCR)、等位基因特异PCR和PCR-限制性内切酶片段长度多态性(RFLP)联用分析技术对140例CRC患者和280例正常对照者的UGT1A7基因型进行检测分析。结果CRC患者携带变异等位基因(~*2,~*3,~*4)频率明显高于对照组(50．0%比38．6%,P＜0．01)。CRC患者携带变异纯合基因型频率(28．6%)明显高于对照组(14．3%),差异有统计学意义(P＜0．01)。与野生型相比,变异杂合型及纯合型OR比值增高趋势有统计学意义(X~2=12．15,P＜0．01)。红烧熏炸食品摄入与CRC发病有关,与低摄人量组(≤5．40 kg/年)相比,中(≤14．35kg/年)、高(＞14．35kg/年)摄入量组风险明显增高,在中摄入量组风险增高差异有统计学意义(P＜0．05,OR=1．84,95% CI∶1．09～3．11)。以红烧熏炸、腌制食品摄人以及吸烟、饮酒状况为分层因素,分析UGT1A7基因多态性与CRC发病的相关性,仅在吸烟个体观察到有相关效应,差异有统计学意义(P＜0．05,OR=3．13,95%CI∶1．03～9．52),在饮酒个体观察到的相关效应临界于显著性水平(P=0．05,OR=2．89,95%CI∶0．99～8．46)。结论UGT1A7基因多态性与CRC的发病呈正相关关系,同时与吸烟、饮酒等环境危险因素可能存在一定的协同作用。
Objective To investigate the association between single nucleotide polymorphism (SNP) of exon 1 of diphosphate uridine diphosphate glucoside transferase (UGT) 1A7 gene and Chinese colorectal cancer (CRC) and its distribution in Chinese population frequency. Methods A population-based group matched case-control study was conducted in which a combination of semi-nested polymerase chain reaction (PCR), allele-specific PCR and PCR-restriction fragment length polymorphism (RFLP) The UGT1A7 genotypes in 140 CRC patients and 280 normal controls were analyzed. Results The frequencies of variant alleles (~ * 2, ~ * 3, ~ * 4) in CRC patients were significantly higher than those in control subjects (50.0% vs 38.6%, P <0.01). The frequency of homozygous genotypes carrying CRC in patients with CRC was significantly higher than that in controls (28.6% vs 14.3%, P <0.01). Compared with wild type, heterozygous and homozygous OR showed a trend of increase (X ~ 2 = 12.15, P <0.01). The intake of braised and smoked fried foods was related to the incidence of CRC. Compared with the low intake group (≤5.40 kg / year), the intake of middle (≤14.35kg / year) and high (> 14.35kg / year) The risk of QOL increased significantly, and there was significant difference in the risk of QOL (P <0.05, OR = 1.84, 95% CI: 1.09 ~ 3.11). The incidence of UGT1A7 gene polymorphism was associated with the incidence of CRC, and the correlation was only observed in smokers with statistically significant differences (P OR = 3.13, 95% CI: 1.03 ~ 9.52). The related effects observed in alcoholic individuals were borderline significant (P = 0.05, OR = 2.89, 95% CI: 0.99 ~ 8.46). Conclusion There is a positive correlation between UGT1A7 gene polymorphism and the incidence of CRC, and there may be some synergistic effects between smoking and drinking alcohol and other environmental risk factors.