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首页> 外文期刊>Journal of applied physiology >A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1alpha (HIF1A) gene in elite endurance athletes.
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A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1alpha (HIF1A) gene in elite endurance athletes.

机译：耐力运动员缺氧诱导因子-1α（HIF1A）基因的常见单倍型和Pro582Ser多态性。

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摘要

Hypoxia-inducible factor-1alpha (HIF1A) is a transcription factor regulating several genes in response to hypoxic stimuli. HIF1A target genes code for proteins involved in oxygen transport, glycolytic enzymes, and glucose transporters. We investigated whether single-nucleotide polymorphisms and haplotypes in the HIF1A gene are associated with endurance performance in the Genathlete cohort, which includes 316 Caucasian male elite endurance athletes (EEA) with a maximal oxygen uptake of 79.0+/-3.5 ml.kg(-1).min(-1) (mean+/-SD) and 304 Caucasian male sedentary controls with a maximal oxygen uptake of 40.1+/-7.0 ml.kg(-1).min(-1). Six single-nucleotide polymorphisms (rs1951795, rs11158358, rs2301113, rs11549465, rs115494657, rs17099207) were genotyped with the TaqMan system. We found a nominal significant tendency for a difference between the two groups for HIF1A Pro582Ser (rs11549465) genotype distributions (Pchi2=0.017). Homozygotes of the Pro genotype were slightly more frequent in athletes than in controls (84 vs. 75%). Compared with Ser carriers, the odds ratio (OR) of being an EEA in Pro/Pro homozygotes was 1.77 [95% confidence interval (CI): 1.18-2.67, P=0.006] compared with the other genotypes. A common HIF1A haplotype (frequency: 15%), including the rs11549465 Pro allele and the minor A allele of rs17099207 in the 3' flanking region of the gene, showed a significant association with EEA status (OR: 2.37, 95% CI: 1.21-4.66, P=0.012), whereas the most prevalent haplotype (frequency: 59%) comprising the rs11549465 Pro allele and the major G allele of rs1709920 showed no association with EEA status (OR: 0.93, 95% CI: 0.58-1.50, P=0.769). We found preliminary evidence that the HIF1A Pro582Ser polymorphism and a common haplotype of the HIF1A gene may be associated with EEA status in Caucasian men.
机译：缺氧诱导因子-1α（HIF1A）是一种转录因子，可调节低氧刺激下的多个基因。 HIF1A靶基因编码参与氧转运，糖酵解酶和葡萄糖转运蛋白的蛋白质。我们调查了HIF1A基因中的单核苷酸多态性和单倍型是否与Genathlete队列中的耐力表现相关，其中包括316名白人男性耐力运动员（EEA），最大摄氧量为79.0 +/- 3.5 ml.kg（- 1）.min（-1）（平均+/- SD）和304个白人男性久坐对照者，最大摄氧量为40.1 +/- 7.0 ml.kg（-1）.min（-1）。用TaqMan系统对六个单核苷酸多态性（rs1951795，rs11158358，rs2301113，rs11549465，rs115494657，rs17099207）进行基因分型。我们发现两组HIF1A Pro582Ser（rs11549465）基因型分布之间存在差异（Pchi2 = 0.017）。 Pro基因型的纯合子在运动员中比在对照组中更为频繁（84比75％）。与Ser载体相比，Pro / Pro纯合子中EEA的优势比（OR）为1.77 [95％置信区间（CI）：1.18-2.67，P = 0.006]。常见的HIF1A单倍型（频率：15％），包括基因的3'侧翼区域的rs11549465 Pro等位基因和rs17099207的次要A等位基因，与EEA状态显着相关（OR：2.37，95％CI：1.21） -4.66，P = 0.012），而包含rs11549465 Pro等位基因和rs1709920的主要G等位基因的最普遍单倍型（频率：59％）与EEA状态无关（OR：0.93，95％CI：0.58-1.50， P = 0.769）。我们发现初步证据表明，HIF1A Pro582Ser多态性和HIF1A基因的常见单倍型可能与白人男性的EEA状态有关。

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