西藏人群中 FTO、ACVR2B 和 IRS1 多态性与肌肉减少症易感性的关联。

The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans.

机构信息

Institute of Biological Anthropology, Jinzhou Medical University, Jinzhou, China.

Department of Pathophysiology, Jinzhou Medical University, Jinzhou, China.

出版信息

Mol Genet Genomic Med. 2021 Aug;9(8):e1747. doi: 10.1002/mgg3.1747. Epub 2021 Jul 24.

DOI:10.1002/mgg3.1747

PMID:34302448

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8404241/

Abstract

BACKGROUND

Hypoxia within the plateau has a negative effect on skeletal muscle and may play a role in the development of sarcopenia in humans. Tibetans having lived in the Qinghai-Tibet Plateau for thousands of years, are a high-risk group for sarcopenia; however, they have a distinctive suite of genetic traits that enable them to tolerate environmental hypoxia and are genetically significantly different from Han Chinese and other lowland populations. Sarcopenia has been consistently found to be associated with single-nucleotide polymorphisms, but few studies have investigated the role of single-nucleotide polymorphisms in a range of muscle phenotypes and sarcopenia in Tibetan peoples.

METHODS

Our study aimed to investigate the skeletal muscle mass and fat mass of 160 Tibetans (80 men and 80 women) from Lhasa (altitude of 3600 meters) and analyze the association between the polymorphisms of fat mass and obesity protein (FTO) rs9939609, FTO rs9936385, activin type IIB receptor (ACVR2B) rs2276541, insulin receptor substrate 1 (IRS1) 2943656 and sarcopenia.

RESULT

FTO rs9939609 and rs9936385 polymorphisms were associated with lower limb skeletal muscle mass and sarcopenia for Tibetan women, and TT homozygotes had a higher risk for sarcopenia. But ACVR2B rs2276541 and IRS1 2943656 polymorphisms were unassociated with sarcopenia in Tibetan.

CONCLUSION

In Tibetans, FTO rs9939609 and rs9936385 polymorphisms were associated with sarcopenia, and ACVR2B rs2276541 and IRS1 2943656 polymorphisms were unassociated with sarcopenia.

摘要

背景

高原缺氧对骨骼肌有负面影响，可能在人类肌少症的发展中起作用。生活在青藏高原上的藏族人是肌少症的高危人群，他们具有独特的遗传特征，能够耐受环境缺氧，与汉族和其他低地人群在基因上有显著差异。肌少症一直与单核苷酸多态性相关，但很少有研究调查单核苷酸多态性在藏族人群的一系列肌肉表型和肌少症中的作用。

方法

我们的研究旨在调查来自拉萨（海拔 3600 米）的 160 名藏族人（80 名男性和 80 名女性）的骨骼肌量和脂肪量，并分析肥胖相关基因 FTO（fat mass and obesity protein）rs9939609、rs9936385、ACVR2B（activin type IIB receptor）rs2276541、IRS1（insulin receptor substrate 1）2943656 多态性与肌少症的关系。