TGF-β、IL-4R基因单核苷酸多态性与中国人群经典霍奇金淋巴瘤发病关系的研究  

Relationship of TGF-β and IL-4R gene polymorphisms with risk of classical Hodgkin lymphoma

作　　者：王欣如[1] 李丽珍[1] 黄涛[2] 李颢[1] 王鲁群[1] 李湘新[1] 李芳邻[1] 

机构地区：[1]山东大学齐鲁医院血液科,济南250012 [2]山东大学医学院诊断学研究所

出　　处：《中华血液学杂志》2012年第12期1015-1019,共5页Chinese Journal of Hematology

基　　金：山东省科技攻关基金（2006GG3202047）

摘　　要：目的研究转化生长因子-β1（TGF-β1）基因G-800A、C-509T及IL-4受体（IL-4R）基因V75I位点单核苷酸多态性与成人经典霍奇金淋巴瘤（CHL）易感性的关系。方法应用PCR-限制性片段长度多态性技术研究TGF-B1G-800A、C-509T，IL-4RV75I位点多态性分布特点，并结合临床资料分析其与CHL发病风险的关系。结果TGF—B1C-509T、G-800A存在明显连锁不均衡性（D’0．879，r2=0．83，P=0．020）；混合细胞型CHL组与对照组GT单倍体型的分布频数分别为53．1％和34．2％，差异有统计学意义（OR=2．35，P=0．000）；突变型基因T／T在疾病组和对照组分布频数分别为38．8％和15．3％，差异有统计学意义（OR=3．654，P=0．000）；结节硬化型CHL患者IL-4RV75I位点突变型基因A／A在疾病组和对照组分布频数分别为19．2％和41．75％，差异有统计学意义（OR=3．156，P=0．000）。结论TGF—B1G-800A、C-509T连锁单核苷酸多态性位点、IL-4RV75I位点多态性与中国人群CHL的发病风险存在相关性。Objective This study was aimed to analyze the relationship between single nucleotide polymorphisms of transforming growth factor-β1 G -800A and C -509T, interleukin-4 receptor V75I and sus- ceptibility of CHL in adults. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was applied to analyze the expressed alleles of the selected SNP loca. The relationship between genomie polymorphisms of TGF-β1 and IL-4R and susceptibility of CHL were coupled with clinical data. Resuits TGF-β1G -800A and TGF-β1C -509T had obvious linkage equilibrium（D＇ =0. 879,r2 =0.83 ,P = 0. 020）. GT haplotype distribution frequencies in mixed cellularity Hodgkin lymphoma cases and control group were of 53.1% and 34.2% , respectively, with statistically significant （ OR =2.35, P =0.000） ; dis- tribution frequencies of mutant gene T/T in disease and control groups were of 38.8% and 15.3%, respec- tively, also with statistically significant （ OR = 3. 654, P = 0. 000） ; frequencies of nodular sclerosis CHL patients with IL-4R V75I mutant gene A/A in disease and control groups were of 19.2% and 41.75%, respectively, also with statistically significant （OR = 3. 156, P = 0. 000）. Conclusion Single nucleotide polymor- phisms of TGF-β1 G -800A, C -509T and IL-4R V75I has a significant correlation with Chinese susceptibil- ity to classical Hodgkin lymphoma.

关 键 词：淋巴瘤 霍奇金 多态性 单核苷酸 转化生长因子131 白细胞介素4 受体 

分 类 号：R733.1[医药卫生—肿瘤]