GNB3 C825T polymorphism is associated with postural tachycardia syndrome in children.
GNB3 C825T polymorphism is associated with postural tachycardia syndrome in children.
复制标题
GNB3 C825T 多态性与儿童体位性心动过速综合征相关。
DOI：
10.1111/j.1442-200x.2012.03707.x
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Tamai H.
中科院分区：
文献类型：
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作者：
Nakao R;Tanaka H;Takitani K;Kajiura M;Okamoto N;Kanbara Y;Tamai H.
目的体位性心动过速综合征（POTS）是儿童和青少年最常见的慢性立位耐力不良的形式之一。本研究的目的是探讨POTS.MethodsA共96名儿童和青少年直立失调的遗传背景的影响进行了研究。结果在GNB 3基因C825 T多态性中，CT和TT基因型与CC基因型相比，仰卧心率显著降低，站立时心率增加幅度较大，而G蛋白β3亚基（GNB 3）C825 T和G蛋白α亚基（GNAS 1）T131 C基因型与CC基因型相比，仰卧心率显著降低，站立时心率增加幅度较大。与心率变异性高频分量的评估功效相关。根据日本临床指南的标准，48名儿童被诊断为POTS，30名为正常反应者伴躯体形式障碍（SD）。在GNB 3基因C825 T多态性中，TT基因型在POTS组的频率（45.8%）高于SD组（25.0%;P= 0.036）。在GNAS 1 T393 C，基因型频率为T393 C多态性的GNA 1并没有显着groups.ConclusionThe基因多态性GNB 3 C825 T可能是一个危险因素POTS通过增强迷走神经撤回的心脏在儿童和青少年。
AimPostural tachycardia syndrome (POTS) is one of the most frequent forms of chronic orthostatic intolerance in children and adolescents. The aim of the present study was to examine the influence of a genetic background on POTS.MethodsA total of 96 children and adolescents with orthostatic dysregulation were studied. The polymorphism of the G protein β3 subunit (GNB3) C825T and G protein α subunit (GNAS1) T131C of genes encoding components of the autonomic nervous system were determined and compared with circulatory responses to active standing.ResultsIn the GNB3 gene C825T polymorphism, the CT and TT genotype had a significant lower supine heart rate and a larger increase of heart rate by standing than the CC, associated with evaluated power of the high‐frequency component of heart rate variability. According to the criteria of the Japanese clinical guidelines, 48 children were diagnosed as POTS and 30 were as normal responder with somatoform disorder (SD). In GNB3 C825T polymorphism, the TT genotype was more frequently found in the POTS group (45.8%) than in the SD group (25.0%;P= 0.036). In the GNAS1 T393C, the genotype frequencies for the T393C polymorphisms of GNA1 did not differ significantly between the groups.ConclusionThe gene polymorphisms GNB3 C825T might be a risk factor for POTS through the enhanced vagal withdrawal of the heart in children and adolescents.