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Heart Rhythm. 2011 May;8(5):704-10. doi: 10.1016/j.hrthm.2011.01.003. Epub 2011 Jan 6.
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Adrenergic signaling polymorphisms and their impact on cardiovascular disease.肾上腺素能信号多态性及其对心血管疾病的影响。
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{beta}-Adrenoceptor gene variation and intermediate physiological traits: prediction of distant phenotype.β-肾上腺素能受体基因变异与中间生理特征:远表型预测。
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Beta-1 and beta-2 adrenoceptor polymorphisms: functional importance, impact on cardiovascular diseases and drug responses.β-1和β-2肾上腺素能受体基因多态性:功能重要性、对心血管疾病的影响及药物反应
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Association of beta-adrenoceptor polymorphisms with cardiac autonomic modulation in Japanese males.日本男性β-肾上腺素能受体基因多态性与心脏自主神经调节的关联
Am Heart J. 2007 Oct;154(4):759-66. doi: 10.1016/j.ahj.2007.03.053.
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Studies of the associations between functional beta2-adrenergic receptor variants and obesity, hypertension and type 2 diabetes in 7,808 white subjects.对7808名白人受试者中功能性β2 - 肾上腺素能受体变异与肥胖、高血压和2型糖尿病之间关联的研究。
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Arg16Gly 和 Gln27Gluβ2 肾上腺素能受体多态性影响健康年轻巴西人的心脏自主神经调节和压力感受性反射敏感性。

Arg16Gly and Gln27Glu β2 adrenergic polymorphisms influence cardiac autonomic modulation and baroreflex sensitivity in healthy young Brazilians.

机构信息

Hypertension Unit, Heart Institute (InCor), Medical School of University of São Paulo (FMUSP) São Paulo, Brazil.

Department of Internal Medicine, Universitary Hospital, Medical School of University of São Paulo (FMUSP) São Paulo, Brazil ; Department of Nefrology, Federal University of São Paulo (UNIFESP) São Paulo, Brazil.

出版信息

Am J Transl Res. 2015 Jan 15;7(1):153-61. eCollection 2015.

PMID:25755837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4346532/
Abstract

The association between functional β2 adrenergic receptor (β2-AR) polymorphisms and cardiac autonomic modulation is still unclear. Thus, two common polymorphisms in the β2-AR gene (Gln27Glu β2 and Arg16Gly β2) were studied to determine whether they might affect tonic and reflex cardiac sympathetic activity in healthy young subjects. A total of 213 healthy young white subjects of both genders (53% female), aged 18-30 years (23.5±3.4 y), had their continuous blood pressure curves noninvasively recorded by Finometer at baseline, and other hemodynamic parameters, as cardiac autonomic modulation, baroreflex sensitivity, and allele, genotype, and diplotype frequencies calculated. Associations were made between Arg16Gly β2 and Gln27Glu β2 polymorphisms and between β2-AR diplotypes and all variables. The heart rate was significantly lower (P<0.001) in the presence of homozygous Arg/Arg alleles (60.9±1.5 bpm) than in that of Arg/Gly heterozygotes (65.9±1.0 bpm) or Gly/Gly homozygotes (66.3±1.2 bpm). Homozygous carriers of Arg16 allele had an alpha index (19.2±1.3) significantly higher (P<0.001) than that of the subjects with the Gly allele Gly/Gly (14.5±0.7) or Arg/Gly (14.6±0.7). Furthermore, the recessive Glu27Glu and the heterozygous Gln27Glu genotypes had a higher percentage of low-frequency components (LF%) than the homozygous Gln27Gln (15.1% vs. 16.0% vs. 8.2%, P=0.03, respectively). In healthy young subjects, the presence of β2-AR Arg16 allele in a recessive model was associated with higher baroreflex sensitivity, and increased parasympathetic modulation in studied individuals.

摘要

β2 肾上腺素能受体(β2-AR)功能的多态性与心脏自主神经调节之间的关系尚不清楚。因此,研究了β2-AR 基因中的两个常见多态性(Gln27Glu β2 和 Arg16Gly β2),以确定它们是否可能影响健康年轻受试者的心脏交感神经的紧张和反射活动。共有 213 名健康的年轻白种人,男女各占 53%(女性),年龄在 18-30 岁(23.5±3.4 岁),通过 Finometer 无创地记录了他们的连续血压曲线,计算了其他血流动力学参数,如心脏自主神经调节、压力反射敏感性以及等位基因、基因型和二倍型频率。Arg16Gly β2 和 Gln27Glu β2 多态性以及β2-AR 二倍型与所有变量之间进行了相关性分析。携带 Arg/Arg 等位基因的个体心率显著降低(P<0.001)(60.9±1.5 bpm),低于 Arg/Gly 杂合子(65.9±1.0 bpm)或 Gly/Gly 纯合子(66.3±1.2 bpm)。Arg16 等位基因的纯合子携带者的α指数(19.2±1.3)显著高于(P<0.001)携带 Gly 等位基因 Gly/Gly(14.5±0.7)或 Arg/Gly(14.6±0.7)的个体。此外,隐性的 Glu27Glu 和杂合 Gln27Glu 基因型比纯合 Gln27Gln 基因型具有更高的低频成分百分比(LF%)(15.1%对 16.0%对 8.2%,P=0.03)。在健康的年轻受试者中,β2-AR Arg16 等位基因的隐性模型与较高的压力反射敏感性和研究个体中副交感神经调节增加相关。