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COL5A1 基因功能区域的一种多态性:与超长耐力跑表现和关节活动范围的关联。

A polymorphism in a functional region of the COL5A1 gene: association with ultraendurance-running performance and joint range of motion.

机构信息

UCT/MRC Research Unit for Exercise Science and Sports Medicine, University of Cape Town, Cape Town, South Africa.

出版信息

Int J Sports Physiol Perform. 2014 May;9(3):583-90. doi: 10.1123/ijspp.2013-0222. Epub 2013 Sep 30.

DOI:10.1123/ijspp.2013-0222
PMID:24085259
Abstract

PURPOSE

Endurance-running performance and joint range of motion (ROM) are both multifactorial phenotypes. A single-nucleotide polymorphism, rs172722 (C/T), in the COL5A1 3'-untranslated region (UTR) was shown to independently associate with both phenotypes. Two major functional forms of the COL5A1 3'-UTR have been identified and differ by 7 tightly linked polymorphisms that include rs12722 and a short tandem-repeat polymorphism (STRP rs71746744, -/AGGG). It has been proposed that STRP rs71746744 plays a role in the predicted secondary structures and mRNA stability of the 2 major forms of the COL5A1 3'-UTR, therefore implying a regulatory role. The aim of this study was to determine whether STRP rs71746744 is independently associated with running performance and prerace sit-and-reach range of motion (SR ROM) in a cohort of ultramarathon road runners.

METHODS

One hundred six (74 men and 32 women, age 22-67 y) white runners who participated in either the 2009 or 2011 Two Oceans 56-km ultramarathon were included in this cross-sectional study. Their SR ROM measurements, COL5A1 rs71746744 genotype, and overall race times were determined.

RESULTS

COL5A1 rs71746744 was independently associated with running performance (P = .024) and prerace SR ROM (P = .020). Moreover, the AGGG/AGGG genotype was significantly overrepresented in the fastest and inflexible athletes compared with those with either the -/AGGG or -/- genotype.

CONCLUSIONS

These findings provide further evidence for a relationship between COL5A1, running performance, and SR ROM. Further studies are needed to investigate the effect of this variant on the mechanical properties of connective tissue.

摘要

目的

耐力跑表现和关节活动度(ROM)都是多因素表型。COL5A1 3'非翻译区(UTR)中的单核苷酸多态性 rs172722(C/T)被证明与这两种表型均独立相关。已经鉴定出 COL5A1 3'UTR 的两种主要功能形式,它们通过包括 rs12722 和短串联重复多态性(STRP rs71746744,-/AGGG)在内的 7 个紧密连锁的多态性而有所不同。有人提出,STRP rs71746744 在 COL5A1 3'UTR 的两种主要形式的预测二级结构和 mRNA 稳定性中发挥作用,因此暗示其具有调节作用。本研究的目的是确定 STRP rs71746744 是否与参加超长跑公路赛跑的运动员的跑步表现和赛前坐立触及活动度(SR ROM)独立相关。

方法

这项横断面研究共纳入 106 名(74 名男性和 32 名女性,年龄 22-67 岁)白人跑步者,他们参加了 2009 年或 2011 年的双海洋 56 公里超长跑。确定了他们的 SR ROM 测量值、COL5A1 rs71746744 基因型和整体比赛时间。

结果

COL5A1 rs71746744 与跑步表现(P =.024)和赛前 SR ROM(P =.020)独立相关。此外,与 -/AGGG 或 -/-基因型相比,AGGG/AGGG 基因型在最快和最不灵活的运动员中明显更为常见。

结论

这些发现为 COL5A1、跑步表现和 SR ROM 之间的关系提供了进一步的证据。需要进一步的研究来研究该变体对结缔组织机械性能的影响。

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