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基于社区样本的循环透明质酸(HA)的数量遗传学及其与手部骨关节炎和肥胖相关表型的相关性

Quantitative genetics of circulating Hyaluronic Acid (HA) and its correlation with hand osteoarthritis and obesity-related phenotypes in a community-based sample.

作者信息

Prakash Jai, Gabdulina Gulzhan, Trofimov Svetlana, Livshits Gregory

机构信息

a Human Population Biology Research Unit, Department of Anatomy and Anthropology , Tel Aviv University , Tel Aviv , Israel.

b Department of Internal Medicine , Asfendiyarov Kazakh National Medical University , Almigty , Kazakhstan.

出版信息

Ann Hum Biol. 2017 Sep;44(6):522-530. doi: 10.1080/03014460.2017.1334822. Epub 2017 Jul 9.

Abstract

BACKGROUND

One of the potential molecular biomarkers of osteoarthritis (OA) is hyaluronic acid (HA). HA levels may be related to the severity and progression of OA. However, little is known about the contribution of major risk factors for osteoarthritis, e.g. obesity-related phenotypes and genetics to HA variation.

AIM

To clarify the quantitative effect of these factors on HA.

SUBJECTS AND METHODS

An ethnically homogeneous sample of 911 apparently healthy European-derived individuals, assessed for radiographic hand osteoarthritis (RHOA), HA, leptin, adiponectin, and several anthropometrical measures of obesity-related phenotypes was studied. Model-based quantitative genetic analysis was used to reveal genetic and shared environmental factors affecting the variation of the study's phenotypes.

RESULTS

The HA levels significantly correlated with the age, RHOA, adiponectin, obesity-related phenotypes, and the waist-to-hip ratio. The putative genetic effects contributed significantly to the variation of HA (66.2 ± 9.3%) and they were also significant factors in the variations of all the other studied phenotypes, with the heritability estimate ranging between 0.122 ± 4.4% (WHR) and 45.7 ± 2.2% (joint space narrowing).

CONCLUSIONS

This is the first study to report heritability estimates of HA variation and its correlation with obesity-related phenotypes, ADP and RHOA. However, the nature of genetic effects on HA and its correlation with other study phenotypes require further clarification.

摘要

背景

透明质酸(HA)是骨关节炎(OA)潜在的分子生物标志物之一。HA水平可能与OA的严重程度和进展相关。然而,对于骨关节炎的主要危险因素,如肥胖相关表型和基因对HA变异的影响知之甚少。

目的

阐明这些因素对HA的定量影响。

对象与方法

对911名来自欧洲、种族同质、表面健康的个体进行研究,评估其手部放射学骨关节炎(RHOA)、HA、瘦素、脂联素以及几种肥胖相关表型的人体测量指标。采用基于模型的定量遗传分析来揭示影响研究表型变异的遗传和共同环境因素。

结果

HA水平与年龄、RHOA、脂联素、肥胖相关表型以及腰臀比显著相关。假定的遗传效应显著影响HA的变异(66.2±9.3%),并且也是所有其他研究表型变异的重要因素,遗传度估计值在0.122±4.4%(腰臀比)至45.7±2.2%(关节间隙变窄)之间。

结论

这是第一项报告HA变异遗传度估计及其与肥胖相关表型、脂联素和RHOA相关性的研究。然而,基因对HA的影响性质及其与其他研究表型的相关性仍需进一步阐明。

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