摘要目的 探讨中国华北地区汉族人群中细胞间黏附分子-1(ICAM-1)基因编码区单核苷酸多态性(SNPs)与大肠癌发病风险的关系.方法 采用序列特异-聚合酶链反应(PCR-SSP)方法检测87例大肠癌患者(大肠癌组)和102例正常对照者(对照组)ICAM-1基因型和等位基因频率的分布.结果 大肠癌组和对照组ICAM-1-241G/R多态的基因型均为G/G,未检测出R241等位基因.ICAM-1-469K/E多态3种基因型频率(K/K,K/E,E/E)在大肠癌组和对照组中分别是57.47%(50/87)、32.18%(28/87)、10.35%(9/87)和42.16%(43/102)、43.14%(44/102)、14.70%(15/102),与K/E+E/E基因型比较,K/K基因型罹患大肠癌的风险明显增加(OR=1.85,x2=4.406,95%CI:1.04～3.31,P＜0.05);与E等位基因比较,K等位基因携带者增加大肠癌的发病风险(OR=1.58,x2=4.194,95%CI:1.02～2.46,P＜0.05).ICAM-1-469K/E多态的K/K基因型在大肠癌组中与肿瘤分化程度有关(x2=4.564,P＜0.05);而与临床其他病理参数包括性别、年龄、肿瘤部位及Dukes分期无关(P＞0.05).结论 ICAM-1-241G/R多态在我国华北地区汉族人群中不存在多态性;ICAM-1-469K/E多态K等位基因或K/K基因型的存在可明显增加大肠癌的发病风险;ICAM-1-469K/E多态K/K基因型与肿瘤分化程度有关.

abstractsObjective To investigate the association of single nucleotide polymorphisms (SNPs) in intercellular adhesion molecule-1 ( ICAM-1) gene with the risk of colorectal cancer ( CRC). Methods Genotypes of ICAM-1 were analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP) method among 87 cases of CRC specimens and 102 frequency-matched controls. Results The ICAM-1 -241G/R polymorphism was G/G genotype in all of CRC patients and controls, and R241 allele was not detected. The frequencies of the K/K, K/E and E/E genotypes in cases (57.47% , 33.18% and 10.35% ) were significantly different from those of controls (43.16% , 43.14% and 14.70% ). As compared with K/E + E/E genotypes, K/K genotype could significantly increase the risk of colorectal cancer (x2 =4.406, P <0.05) , with an odds ratio of 1.85 (95% CI = 1.04-3.31). The frequency of the K allele in CRC patients (73.56% ) was higher than that in the controls ( 63.73% ) (x2 = 4.194, P < 0.05). As compared with E allele, K allele could increase the risk of colorectal cancer, with an odds ratio of 1.58 (95% CI = 1.02-2.46). Among 87 CRC patients, the frequency of KK genotype in well-differentiated patients was significantly higher than that in the poorly differentiated patients (X2 = 4.564, P < 0.05 ). No significant correlations were found between the ICAM-1-469K/E polymorphism and gender, age, tumor location, metastasis, and Dukes stages (P>0.05). Conclusion There is no polymorphism of the ICAM-1-241 G/R in the population of North China. The K/K genotype and K allele significantly increase the risk of colorectal cancer occurrence. ICAM-1 -469K/E polymorphisms are associated with the degree of tumor differentiation.