遗传因素对肌肉力量、膝关节疼痛、软骨体积、骨骼大小及影像学骨关节炎的影响：一项同胞对研究。

The genetic contribution to muscle strength, knee pain, cartilage volume, bone size, and radiographic osteoarthritis: a sibpair study.

作者信息

Zhai Guangju, Stankovich James, Ding Changhai, Scott Fiona, Cicuttini Flavia, Jones Graeme

机构信息

University of Tasmania, Hobart, Tasmania, Australia.

出版信息

Arthritis Rheum. 2004 Mar;50(3):805-10. doi: 10.1002/art.20108.

DOI:10.1002/art.20108

PMID:15022322

Abstract

OBJECTIVE

To estimate the heritability of muscle strength, knee pain, cartilage volume, bone size, and radiographic osteoarthritis (ROA), and to assess whether heritability of the knee structural components is independent of ROA.

METHODS

A sibpair design was utilized. Sagittal T1-weighted fat-suppressed magnetic resonance imaging (MRI) of the right knee was performed to determine cartilage volume and bone size. Standing semiflexed radiographs of the same knee were obtained to assess the presence of ROA. Knee pain was assessed by questionnaire and muscle strength by dynamometry. Heritability was estimated using the genetic analysis program SOLAR.

RESULTS

A total of 128 subjects (61 men, 67 women; mean age 45 years) from 51 families representing 115 sibpairs were studied. Lower limb muscle strength had high heritability (42%; P = 0.02), as did knee pain (44%; P = 0.07). Heritability estimates for cartilage volume were 65% for medial tibial cartilage, 77% for lateral tibial cartilage, and 84% for patellar cartilage, and heritability estimates for bone size were 85% for medial tibial bone area, 57% for lateral tibial bone area, and 70% for patella bone volume (all P < or = 0.004). For ROA, heritability was 61% for presence (with a large standard error) (P = 0.16) and 61% for severity (P = 0.02). The estimates for tibial bone areas were the only ones markedly reduced after adjustment for body size, while all estimates with the exception of knee pain were independent of ROA. Cartilage and, to a lesser extent, bone sites investigated by MRI were largely under independent genetic control, with a lesser shared genetic component.

CONCLUSION

With the exception of prevalent ROA, all knee modalities assessed had high heritability, most likely reflecting a strong genetic component. Cartilage volume, bone size, and muscle strength all have the potential to be studied in quantitative trait linkage analyses, but their exact relevance with regard to OA remains uncertain at this time.

摘要

目的

评估肌肉力量、膝关节疼痛、软骨体积、骨大小及影像学骨关节炎（ROA）的遗传度，并评估膝关节结构成分的遗传度是否独立于ROA。

方法

采用同胞对设计。对右膝进行矢状面T1加权脂肪抑制磁共振成像（MRI）以确定软骨体积和骨大小。获取同一膝关节的站立半屈曲X线片以评估ROA的存在情况。通过问卷评估膝关节疼痛，通过测力计评估肌肉力量。使用遗传分析程序SOLAR估计遗传度。

结果

共研究了来自51个家庭的128名受试者（61名男性，67名女性；平均年龄45岁），代表115对同胞。下肢肌肉力量具有较高的遗传度（42%；P = 0.02），膝关节疼痛也是如此（44%；P = 0.07）。内侧胫骨软骨的软骨体积遗传度估计为65%，外侧胫骨软骨为77%，髌软骨为84%，骨大小的遗传度估计为内侧胫骨骨面积85%，外侧胫骨骨面积57%，髌骨骨体积70%（所有P≤0.004）。对于ROA，存在情况的遗传度为61%（标准误较大）（P = 0.16），严重程度的遗传度为61%（P = 0.02）。调整身体大小后，胫骨骨面积的估计值是唯一显著降低的，而除膝关节疼痛外的所有估计值均独立于ROA。MRI研究的软骨以及在较小程度上的骨部位在很大程度上受独立的遗传控制，共享的遗传成分较少。