钙调神经磷酸酶基因多态性与中国北方地区汉族男性心脏功能表型的关联性研究

Polymorphisms in the Calcineurin Genes Associated with the Training Responsiveness of Cardiac Phenotypes of Male Adult of Han Nationality in North Region of China

目的:探讨钙调神经磷酸酶的5个编码基因(PPP3CA、PPP3CB、PPP3CC、PPP3 R1和PPP3 R2)的55个单核苷酸多态性与心脏功能表型的初始值及耐力训练效果的关联性。方法:102名无训练史的青年健康男子完成18周有氧耐力训练,测试训练前后的安静、次最大负荷(50 W、100 W和150 W)下及恢复期的心脏结构及功能指标,采用PCR-RFLP和MALDI-TOF MS对多态性进行分型,所有的统计学分析均进行多重比较的修正。结果:1)rs3763679(PPP3CA)与安静时的心率初始值关联;2)rs1879793、rs1075534、rs7430、rs2461483和rs10108011(PPP3CC)与恢复期的每搏量或/和心输出量的训练敏感性关联;3)rs1407877(PPP3 R2)与次最大负荷(50 W)下的射血分数的训练敏感性关联。结论:钙调神经磷酸酶基因多态性可能部分解释心脏功能指标的个体差异性。

This paper studied the association of 55 polymorphisms in the PPP3CA,PPP3CB,PPP3CC,PPP3R1 and PPP3R2 genes with both（i） the pre-training levels and（ii） responsiveness to endurance training（18 weeks）,of echocardiography variables.The latter were measured both before and after the training program at each of the following time points：before（rest）,during,and after cycle-ergometry exercise.All multiple comparisons were corrected for mass significance.For genotype：phenotype associations at pre-training,we only found a significant association between the rs3763679 polymorphism（PPP3CB） and resting heart rate.As for genotype associations with trainability of cardiac phenotypes,we found the following significant associations（i.e.significant genotype＊training interaction effect）：（i） rs1879793,rs1075534,rs7430,rs2461483,and rs10108011（PPP3CC） and cardiac output/stroke volume after exercise;and（ii） rs1407877（PPP3R2） and ejection fraction at 50 watts.The findings suggest that polymorphisms in the calcineurin genes might be among the numerous potential genetic variant candidates that can help explain human variations in the pre-training levels or trainability of cardiac phenotype traits.