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GNB3 rs5443、HIF1A rs11549465 多态性与生理和功能特征之间缺乏关联。

Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics.

机构信息

Department of Health Sciences and Sport Medicine, University of Physical Education, Budapest, Hungary.

Faculty of Health Sciences, University of Pécs, Pécs, Hungary.

出版信息

Ann Hum Genet. 2020 Sep;84(5):393-399. doi: 10.1111/ahg.12387. Epub 2020 May 11.

DOI:10.1111/ahg.12387
PMID:32391916
Abstract

The aim was to examine the association between the hypoxia-inducible factor-1α (HIF1A) gene and the guanine nucleotide binding protein beta polypeptide 3 (GNB3) gene polymorphisms and the endurance/power athlete status and relative aerobic capacity. Another goal of this study was to reveal the connection between GNB3, blood pressure (BP), body composition and body mass index (BMI). Two hundred thirty-eight people participated in this study: 148 elite athletes (men = 107, women = 41) and 90 controls (men = 51, women = 39). The athletes were divided into two groups: the power and the endurance athletes. BMI and body fat percentage (fat%) were calculated. Fifty of the athletes underwent an incremental treadmill test to exhaustion; BP was monitored before and after the test. There were differences in the genotype frequencies of HIF1A between the endurance and the control group (ProPro: 64% vs.79%, ProSer: 27% vs.19%, SerSer: 9% vs. 2%; p = .0351); in the allele prevalences among the three groups (Pro: 87% vs. 77% vs. 88%; Ser: 13% vs. 23% vs. 12%; p = .0103) and between the endurance and control group (p = .0049) as well. The GNB3 allele proportions differed in the three groups (C: 74% vs. 61% vs. 71%, T: 26% vs. 39% vs. 29%; p = .0436). There were no connections between the genotypes and the relative aerobic capacity and neither between GNB3 genotypes and BP, BMI and fat%. The connection of GNB3 T allele to the endurance performance still remained contradictable.

摘要

目的在于检验缺氧诱导因子-1α(HIF1A)基因和鸟嘌呤核苷酸结合蛋白β多肽 3(GNB3)基因多态性与耐力/力量运动员身份和相对有氧能力之间的关联。本研究的另一个目的是揭示 GNB3 与血压(BP)、身体成分和体重指数(BMI)之间的联系。本研究共有 238 人参与:148 名精英运动员(男性 107 名,女性 41 名)和 90 名对照组(男性 51 名,女性 39 名)。运动员分为两组:力量组和耐力组。计算 BMI 和体脂百分比(脂肪%)。其中 50 名运动员进行了递增跑步机至力竭试验;在试验前后监测 BP。耐力组和对照组之间 HIF1A 的基因型频率存在差异(ProPro:64% vs.79%,ProSer:27% vs.19%,SerSer:9% vs.2%;p =.0351);三组之间的等位基因频率也存在差异(Pro:87% vs. 77% vs. 88%;Ser:13% vs. 23% vs. 12%;p =.0103),以及耐力组和对照组之间(p =.0049)。三组之间 GNB3 等位基因比例存在差异(C:74% vs. 61% vs. 71%,T:26% vs. 39% vs. 29%;p =.0436)。基因型与相对有氧能力之间没有联系,GNB3 基因型与 BP、BMI 和脂肪%之间也没有联系。GNB3 T 等位基因与耐力表现之间的联系仍然存在争议。

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