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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 investigate the genotype distribution of single nucleotide polymorphisms (SNPs) of transforming growth factor-β1 (TGF-β1) G-800A and C-509T in Han nationality in Jinan City and surrounding areas. The Relationship Between Susceptibility to Papillary Thyroid Carcinoma (PTC). Methods The distribution characteristics of TGF-β1 G-800A and C-509T polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Case-control studies were performed to analyze the relationship between TGF-β1 G-800A and C-509T polymorphisms. Results The linkage disequilibrium coefficients of TGF-β1, C-509T and G-800A genotypes were D ’= 0.75, r2 = 0.83, P = 0.03 in PTC group and control group. The haplotypes of TGF- The wild-type GC haplotype OR = 2.21, P <0.0001, indicating that GT haplotype PTC increased susceptibility; the wild TGF-β1 G / G + C / C genotype as a reference, chain presence of TGF-β1 G / A + T / T genotype OR = 2.44, P = 0.01, indicating that its PTC susceptibility increased; TGF-β1 C-509T T / T genotype relative to the wild genotype C / C OR = 3.83, P <0.0001. CONCLUSIONS: Han people in Jinan and surrounding areas have a higher prevalence of GT-haplotype GT and GA + TT PTC linked genotypes, while non-linked TGFβ1 C-509T T / T genotypes may also be significantly increased PTC susceptibility, the above SNP loci genotype can be used as PTC individual monitoring indicators. TGFβ1 C-509T site T / T genotypes show a high risk of PTC disease and are expected to serve as a guideline for targeted therapy.