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目的探讨广西红水河流域长寿人群胰岛素样生长因子2受体(IGF2R)rs9456497位点多态性与心血管危险因素的关系。方法采用改良的多重高温连接酶检测反应技术(i MLDR)对该流域壮族长寿老人(长寿组,n=496)及其第一代子女(子女组,n=723)以及普通健康中老年人(对照组,n=611)进行rs9456497位点的基因分型,并分析各基因型对体质指数(BMI)、血压(SBP,DBP)、空腹血糖(FPG)及血脂指标等心血管危险因素的影响。结果长寿组GA/GG基因型明显降低SBP和DBP(P=0.016,0.033)。在男性人群中,子女组各基因型的总胆固醇(TC)水平高于长寿组和对照组相应基因型的TC水平(P均<0.05);长寿组各基因型的TG、FPG和BMI水平低于子女组和对照组相应基因型的TG、FPG和BMI水平(P均<0.05),而SBP和DBP水平则高于子女组和对照组(P均<0.05)。在女性人群中,长寿组各基因型的TG、FPG和BMI水平显著低于子女组和对照组,而SBP和DBP则高于子女组和对照组;组内比较显示,对照组GG/GA基因型的FPG明显低于AA基因型(P=0.041),其余指标在各组的基因型间差异无显著性。血脂分层发现,总体人群及对照组等位基因G的频率在血脂异常亚组中明显升高,即该突变具有使血脂异常率升高的趋势;GA/GG基因型明显降低长寿组血脂正常亚组的TC和SBP水平,降低对照组血脂正常亚组的DBP及血脂异常亚组的低密度脂蛋白胆固醇(LDLC)水平。结论 IGF2R rs9456497多态总体上与长寿群体心血管危险因素有一定的关系,但作用有限,而且还受到不同性别及不同血脂状态的影响。
Objective To investigate the association between rs9456497 polymorphism of insulin-like growth factor 2 receptor (IGF2R) and cardiovascular risk factors in Hongshuihe watershed of Guangxi. Methods The improved multiplex MLT (i MLDR) method was used to analyze the genetic diversity of longevity elderly (longevity group, n = 496) and their first generation children (n = 723) Control group, n = 611). The genotypes of rs9456497 were genotyped and the effects of genotypes on cardiovascular risk factors such as body mass index (BMI), blood pressure (SBP, DBP), fasting blood glucose (FPG) . Results GA / GG genotype in longevity group significantly decreased SBP and DBP (P = 0.016,0.033). In the male population, the total cholesterol (TC) level of each genotype of the children group was higher than that of the corresponding genotypes of the longevity group and the control group (all P <0.05). The levels of TG, FPG and BMI in the longevity group were low The levels of TG, FPG and BMI in the corresponding genotypes of children and controls were significantly higher than those of children and controls (P <0.05). In the female population, the levels of TG, FPG and BMI in the longevity group were significantly lower than those in the children and control groups, while the SBP and DBP were higher in the longevity group than in the children and control groups. The comparison of the GG / GA genes Type FPG was significantly lower than the AA genotype (P = 0.041), the remaining indicators in each genotype was no significant difference. Blood lipid stratification showed that the frequency of allele G in the general population and control group was significantly higher in the dyslipidemia subgroup, that is, the mutation had the tendency to increase the dyslipidemia rate; the GA / GG genotype significantly reduced the blood lipid level in the longevity group The levels of TC and SBP in subgroups decreased the level of low density lipoprotein cholesterol (LDLC) in DBP and dyslipidemia subgroups in the normal subgroups. Conclusion The polymorphism of IGF2R rs9456497 is related to the cardiovascular risk factors of longevity population as a whole, but its effect is limited, but it is also affected by different gender and different blood lipid status.