摘要
目的研究单核苷酸基因多态性位点转化生长因子-β1(transforming growth factor-β1,TGF-β1)G-800A、C-509T的基因型分布与济南市及周边地区汉族成人甲状腺乳头状癌(papillary thyroid carcinoma,PTC)易感性的关系。方法应用聚合酶链反应-限制性片段长度多态性技术分析TGF-β1 G-800A、C-509T位点多态性分布特点,行病例对照研究,分析其与PTC发病风险的关系。结果在PTC组及对照组中,TGF-β1、C-509T、G-800A基因型的连锁不平衡系数为D'=0.75,r2=0.83,P=0.03;TGF-β1 GT单倍体型相对于野生GC单倍体型OR=2.21,P<0.000 1,说明GT单倍体型PTC易感性增强;以野生TGF-β1 G/G+C/C基因型作为参照,连锁存在的TGF-β1 G/A+T/T基因型OR=2.44,P=0.01,说明其PTC易感性增强;TGF-β1 C-509T T/T基因型相对于野生基因型C/C OR=3.83,P<0.000 1。结论济南市及周边地区汉族人群中,连锁存在的TGF-β1单倍体型GT及合并基因型GA+TT PTC易感性增强,而非连锁存在的TGFβ1 C-509T T/T基因型亦可明显增加PTC的易感性,以上单核苷酸多态性位点的基因型可用做PTC个体化监测指标。TGFβ1 C-509T位点T/T基因型显示出的PTC患病高风险,有望作为靶向治疗的指导。
Objective To observe single nucleotide polymorphisms of transforming growth factor-β1 （ TGF-β1 ） G-800A and C-509T, and to analyze the relationship between different types of their polymorphisms and susceptibility of papillary thyroid carcinoma （PTC） in Han adults in Jinan city. Methods Distribution of alleles of TGF-β1 G-800A and C-509T SNP were analyzed by polymerase chain reaction-restriction fragment length polymorphisms （ PCR-RFLP）. The linkage disequilibrium relationships were observed between susceptibility of the PTC and TGF-β1 G-800A and C-509T polymorphisms in a case-control study. Results TGF β1 C-509 T and G-800 A linkage equilib- rium factors are D＇ = 0.75, r2 = 0.83, P = 0.03; In a population of Han located in Jinan city： adjusted by wild type GC, number of T GF β-1 GT haploid type, in both PTC patients and control, OR was 2.206（P 〈0.000 1 ）, this dem-onstrated that GT haploid type strengthened PTC susceptibility; The TGF β-1 G/G ＋ C/C genotype,adjusted by non- mutated TGFβ-1 G/G ＋ C/C in both PTC patients and control, OR was 2. 437 （P = 0.010）. This demonstrated that the TGF β-1 G/A ＋ T/T genotype enhanced PTC susceptibility; TGF β-1 C-509 T T/T was related to the wild type C/ C, OR = 3. 826, P 〈 0.000 1, that demonstrated that the TGF β-1 C-509 T T/T haploid type strengthened PTC suscepti- bility. Conclusion In the Jinan Han ethnic group, the TGF-β 1 haploid type GT and merged genotype GA ＋ TT in- creased PTC susceptibility. Also, the TGF 131 C-509 T T/T genotype significantly increased susceptibility to PTC. TGF-β1 in G-800A, and C-509T chain single nucleotide polymorphisms can be used as markers for individual monito- ring. TGFβ1 C-509T was closely related to high risk of PTC and might be a therapeutic target in PTC.
出处
《山东大学耳鼻喉眼学报》
CAS
2012年第3期28-32,共5页
Journal of Otolaryngology and Ophthalmology of Shandong University
