目的探讨转化生长因子-β1(TGF-β1)基因的多态性与人类长寿的相关性。方法采用聚合酶链式反应-限制性片段长度多态性技术,检测198例广西巴马地区健康壮族长寿老人和177例巴马地区健康壮族成年人TGF-β1基因的G-800A、C-509T、T+869C、G+915C多态位点,并比较两组人群TGF-β1基因的相应基因型频率和等位基因频率。结果研究对象中均未检测出G-800A、G+915C多态位点,G-800A位点的基因型均为-800GG,G+915C位点的基因型均为+915GG。C-509T和T+869C两位点均存在多态性。长寿组的等位基因-509C和+869T的频率均明显高于对照组(分别为27.78%和20.90%,P=0.029;35.10%和27.97%,P=0.036)。长寿组基因型为-509CT和+869TT的频率均明显高于对照组(分别为37.37%和24.29%,P=0.006;20.20%和10.17%,P=0.007),可能为长寿的有利因素(OR分别为1.86和2.24);而-509TT的频率明显低于对照组(分别为53.54%和67.23%,P=0.007),可能是长寿的不利因素(OR=0.56)。在G-800A、C-509T、T+869C、G+915C多态位点基因型组合中,长寿组和对照组出现频率最高的均为GG-TT-CC-GG,但无显著性差异(分别为45.45%和52.54%,P=0.170);长寿组GG-CT-TT-GG的频率明显高于对照组(分别为11.11%和1.13%,P=0.000),是长寿的有利因素(OR=10.94)。结论在巴马人群中,TGF-β1基因内带有-509CT和+869TT基因型的个体可能有利于长寿,而-509TT基因型可能是长寿的不利因子。
Objective To explore the correlation of the polymorphisms of transforming growth factor-β1 (TGF-β1) gene with human longevity. Methods Four polymorphisms (G-800A,C-509T,T+869C and G+915C) of the TGF-β1 gene were typed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique for 198 healthy longevous Chuang people and 177 healthy Chuang controls in Bama area. Then the corresponding genotype frequencies and the allelic frequencies were analyzed. Results On the four polymorphism sites,G-800A and G+915C were not detected and all individuals studied presented phenotypes of-800GG and +915GG,while C-509T and T+869C showed polymorphisms,with a significantly higher allelic frequencies of-509C and +869T in long-living group than in the controls (27.78%,20.90%,P=0.029 and 35.10%,27.97%,P=0.036,respectively). The genotype frequencies of-509CT and +869TT in the longevous group were also significantly higher than that in control group (37.37%,24.29%,P=0.006 and 37.37%,24.29%,P=0.006,respectively),and correlation analysis showed that they all had positive association with longevity (OR was 1.86 and 2.24 respectively). The genotype frequency of-509TT in the longevous group was significantly lower than that in control group (53.54% and 67.23%,P=0.007,respectively),with a negative correlation to longevity (OR=0.56). Genotype combinations analysis showed that the frequency of genotype combination GG-TT-CC-GG on the polymorphism sites of G-800A,C-509T,T+869C and G+915C was the highest one in the long-living group and the control group,but it had no significant difference between the two groups (45.45% and 52.54%,P=0.170,respectively). The frequency of genotype combination GG-CT-TT-GG was significantly higher in the long-living group than that in control group (11.11% and 1.13%,P=0.000,respectively),with a positive correlation to longevity (OR=10.94). Conclusions Genotype-509CT and +869TT of TGF-β1 gene may be beneficial to longevi