ALAS2基因复合重复多态性与心脏功能表型的关联性研究——以中国北方汉族男子为例

Association between the Compound Dinucleotide Repeat Polymorphism in ALAS2 Gene and Cardiac Phenotypes——Take the Men of Han Nationality in Northern China as Example

目的:探讨中国北方汉族男性δ-氨基γ-酮戊酸合成酶2(ALAS2)基因复合重复多态性与心脏功能表型的初始值与耐力训练效果的关联性。方法:选取102名中国北方汉族新兵健康受试者,进行18周的5 000 m跑训练。测定训练前后安静、次最大负荷下(50 w、100 w、150 w)及恢复期的心脏结构与功能指标。使用GeneScan和测序方法分析该基因多态性的分布特征,并进行该多态与上述生理指标等关联性分析。结果:1)按照分割点法划分基因型及分组分析,发现按166 bp长度划分时,≤166 bp基因型的左心室结构指标(EDD、LVM)及不同负荷下的每搏量和每搏量指数(b-SV、50W-SV、100W-SV、150W-SV、b-SVI)、心动周期等初始值均显著性高于>166 bp基因型(p<0.05);2)≤166 bp基因型在次最大负荷(50 W)下的心输出量及心指数下降幅度高于>166bp基因型,但无统计学差异(p<0.1)。结论:ALAS2基因复合重复多态与中国北方汉族男性心脏功能的初始水平存在关联,与耐力训练效果无关联。

Objective： To investigate the distribution of the compound dinucleotide repeat polymorphism of ALAS2 Gene and its association with cardiac phenotypes in men of Han nationality in Northern China.Methods： 102 healthy young male soldiers of Han nationality in northern China were recruited to undergo 18-week 5 000 m running 3 times a week.The VO2max、RE、cardiac parameters were measured pre and post-protocol.GeneScan and gene sequencing was used to analyze the distribution of the ALAS2 polymorphism.The association of the polymorphism with initial endurance capacity and endurance training response was analyzed.Result：1） The successive cut-point analysis showed that the initial mean value of EDD、LVM、SV、T in ≤166 bp genotype group were significantly higher than in 166 bp genotype group（P0.05）;2） The decreased change rate of CO、COI at 50w in ≤166 bp genotype group were higher than in 166 bp genotype group（P0.1）.Conclusion： The compound dinucleotide repeat polymorphism in intron 7 of ALAS2 Gene has association with the initial left ventricular function in Chinese men of Han nationality.