修复交叉互补基因1基因单核苷酸多态性与弥漫大B淋巴瘤发病风险及亚型的相关性

发布时间：2018-09-07 07:27

【摘要】：目的探讨修复交叉互补基因(ERCC)1单核苷酸多态性与弥漫大B淋巴瘤(DLBCL)发病风险及亚型的相关性。方法 DLBCL患者108例,根据病理亚型分为活化B细胞型组(ABC组)和生发中心型组(GCB组)各54例。另选取同期该院体检中心体检的健康人群54例作为对照组,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法进行ERCC119007 TC和ERCC18092 CA位点多态性检测,分析ERCC1基因单核苷酸多态性与DLBCL发病风险及亚型的相关性。结果 3组ERCC1基因型中19007 TC的TT和CT+CC分布频率差异有统计学意义(P0.05),而8092 CA的CC和CA+CC分布频率差异无统计学意义(P0.05);4个单体型中2种单体型频率差异有统计学意义:单体型C-C-C降低了个体DLBCL患病的风险(OR=0.589,P=0.039),单体型T-C-T则提高了个体DLBCL患病的风险(OR=0.915,P=0.025);TT和CT基因型发生不同亚型DLBCL发病危险明显高于CC基因型,且高分化和高分期患者的CT+CC基因型分布频率高于低分化和低分期患者(P0.05)。结论 ERCC1基因19007 TC位点多态性与DLBCL发病风险及亚型发生发展密切相关,携带该基因2种不同单体型的个体在DLBCL发病风险及亚型患病风险上存在差异。
[Abstract]:Objective to investigate the association of (ERCC) 1 single nucleotide polymorphism with (DLBCL) risk and subtype of diffuse large B lymphoma. Methods 108 patients with DLBCL were divided into active B cell group (ABC group) and germinal center type group (GCB group) according to their pathological subtypes. In the same period, 54 healthy people were selected as control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of ERCC119007 TC and ERCC18092 CA loci. To analyze the association between single nucleotide polymorphism (SNP) of ERCC1 gene and the risk and subtype of DLBCL. Results the TT and CT CC frequencies of 19007 TC in the three ERCC1 genotypes were significantly different (P0.05), while the CC and CA CC frequencies of 8092 CA had no significant difference (P0.05), while the frequencies of two haplotypes in 4 haplotypes were significantly different (P0.05). Mean: haplotype C-C-C reduced the risk of DLBCL (OR=0.589,P=0.039) in individuals, and haplotype T-C-T increased the risk of individual DLBCL (OR=0.915,P=0.025) with different subtypes of DLBCL (OR=0.915,P=0.025 and CT), which was significantly higher than that of CC. The frequency of CT CC genotype distribution in patients with high differentiation and high stage was higher than that in patients with low differentiation and low stage (P0.05). Conclusion the polymorphism of 19007 TC locus of ERCC1 gene is closely related to the occurrence and development of DLBCL. There are differences in the risk and subtype of DLBCL among the two haplotypes carrying the gene.
【作者单位】：厦门大学附属第一医院血液科;
【基金】：2014年厦门市科技计划科技惠民项目(No.3502Z20144003)
【分类号】：R733.1

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