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代谢综合征及其潜在的遗传决定因素——一项系统综述。

Metabolic syndrome and underlying genetic determinants-A systematic review.

作者信息

Rana Sanjeev, Ali Shafat, Wani Hilal Ahmad, Mushtaq Qazi Danish, Sharma Swarkar, Rehman Muneeb U

机构信息

Human Genomics Research Group, Shri Mata Vaishno Devi University (SMVDU), Katra, J and K India.

Cytogenetics and Molecular Biology Laboratory, Centre of Research for Development, University of Kashmir, Srinagar, J and K India.

出版信息

J Diabetes Metab Disord. 2022 Mar 3;21(1):1095-1104. doi: 10.1007/s40200-022-01009-z. eCollection 2022 Jun.

Abstract

The metabolic syndrome is a cluster of heritable and related traits which has been associated with a range of pathophysiological factors including dyslipidaemia, abdominal obesity, increased fasting plasma glucose (FPG) and hypertension. The documented genetic basis of the metabolic syndrome include several chromosomal positions, numerous candidate gene-associated polymorphisms, different genetic variants, which are linked to the syndrome either as a trait or entities mainly linked to metabolic process. Additionally, the latest findings related to the contribution of epigenetic mechanisms, microRNAs, sporadic variants, non-coding RNAs, and assessing the role of genes in molecular systems has enhanced our understanding of the syndrome. Considerable work has been done to understand the underlying disease mechanisms by elucidating its genetic etiology. Nonetheless, a common shared genetic cause has not been established to clarify the coexistence of their components and further investigation is required. While mostly neglected and rarely known, hereditary predisposition needs to be studied, including with the current defective phenotypic condition descriptions. Metabolic syndrome is a multi-faceted characteristic with abundant properties and the condition can arise from interactions between environmental variables such as physical inactivity, caloric obesity and genetic susceptibility. Although there is support for genetic determinants from family and twin research, there is still no recognised genomic DNA marker for genetic association and linkages with quite a long way off potential for clinical application. In the present review efforts have been made to through light on the various genetic determinants with large effects that underlie with the association of these traits to this syndrome. The heterogeneity and multifactorial heritability of MetS, however, has been a challenge towards understanding the factors underlying the association of these traits.

摘要

代谢综合征是一组具有遗传性且相关的特征,与一系列病理生理因素有关,包括血脂异常、腹型肥胖、空腹血糖(FPG)升高和高血压。代谢综合征已记录的遗传基础包括几个染色体位置、众多候选基因相关的多态性、不同的遗传变异,这些变异与该综合征的关联,要么作为一种特征,要么作为主要与代谢过程相关的实体。此外,与表观遗传机制、微小RNA、散发性变异、非编码RNA的作用相关的最新发现,以及对基因在分子系统中作用的评估,增强了我们对该综合征的理解。通过阐明其遗传病因,人们已经做了大量工作来了解潜在的疾病机制。然而,尚未确定一个共同的遗传病因来解释其各组成部分的共存,仍需要进一步研究。虽然遗传性易感性大多被忽视且鲜为人知,但仍需要进行研究,包括结合当前有缺陷的表型状况描述。代谢综合征是一个具有丰富特征的多方面特性,这种状况可能源于环境变量之间的相互作用,如身体活动不足、热量性肥胖和遗传易感性。尽管家庭和双胞胎研究支持遗传决定因素,但目前仍没有公认的基因组DNA标记用于遗传关联和连锁分析,距离临床应用的潜力还有很长的路要走。在本综述中,我们努力揭示各种具有重大影响的遗传决定因素,这些因素构成了这些特征与该综合征之间的关联。然而,代谢综合征的异质性和多因素遗传性一直是理解这些特征关联背后因素的一个挑战。

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