手部骨关节炎的遗传模式：骨赘的作用。
Heritability patterns in hand osteoarthritis: the role of osteophytes.
机构信息
Division of Rheumatology, Cedars-Sinai Medical Center, 8700 Beverly Blvd, B-131, Los Angeles, CA 90048, USA.
出版信息
Arthritis Res Ther. 2010;12(5):R180. doi: 10.1186/ar3144. Epub 2010 Sep 28.
INTRODUCTION
The objective of the present study was to assess heritability of clinical and radiographic features of hand osteoarthritis (OA) in affected patients and their siblings.
METHODS
A convenience sample of patients with clinical and radiographic hand OA and their siblings were evaluated by examination and radiography. Radiographs were scored for hand OA features by radiographic atlas. The heritability of hand OA phenotypes was assessed for clinical and radiographic measures based on anatomic locations and radiographic characteristics. Phenotypic data were transformed to reduce non-normality, if necessary. A variance components approach was used to calculate heritability.
RESULTS
One hundred and thirty-six probands with hand OA and their sibling(s) were enrolled. By anatomic location, the highest heritability was seen with involvement of the first interphalangeal joint (h2 = 0.63, P = 0.00004), the first carpometacarpal joint (h2 = 0.38, P = 0.01), the distal interphalangeal joints (h2 = 0.36, P = 0.02), and the proximal interphalangeal joints (h2 = 0.30, P = 0.03) with osteophytes. The number and severity of joints with osteophyte involvement was heritable overall (h2 = 0.38, P = 0.008 for number and h2 = 0.35, P = 0.01 for severity) and for all interphalangeal joints (h2 = 0.42, P = 0.004 and h2 = 0.33, P = 0.02). The severity of carpometacarpal joint involvement was also heritable (h2 = 0.53, P = 0.0006). Similar results were obtained when the analysis was limited to the Caucasian sample.
CONCLUSIONS
In a population with clinical and radiographic hand OA and their siblings, the presence of osteophytes was the most sensitive biomarker for hand OA heritability. Significant heritability was detected for anatomic phenotypes by joint location, severity of joint involvement with osteophytes as well as for overall number and degree of hand OA involvement. These findings are in agreement with the strong genetic predisposition for hand OA reported by others. The results support phenotyping based on severity of osteophytes and a joint-specific approach. More specific phenotypes may hold greater promise in the study of genetics in hand OA.
简介
本研究的目的是评估手部骨关节炎（OA）患者及其兄弟姐妹的临床和影像学特征的遗传率。
方法
通过临床和影像学检查评估了手部 OA 患者及其兄弟姐妹的方便样本。根据影像学图谱对手部 OA 特征进行放射学评分。根据解剖位置和放射学特征，基于解剖部位和放射学特征，评估手部 OA 表型的遗传率。如果需要，将表型数据转换以减少非正态性。使用方差分量法计算遗传率。
结果
共纳入 136 例手部 OA 患者及其兄弟姐妹。根据解剖位置，第一指间关节（h2 = 0.63，P = 0.00004）、第一腕掌关节（h2 = 0.38，P = 0.01）、远端指间关节（h2 = 0.36，P = 0.02）和近端指间关节（h2 = 0.30，P = 0.03）骨赘受累的遗传率最高。总体而言，骨赘受累关节的数量和严重程度是可遗传的（关节数量的 h2 = 0.38，P = 0.008，严重程度的 h2 = 0.35，P = 0.01），并且所有指间关节（h2 = 0.42，P = 0.004 和 h2 = 0.33，P = 0.02）。腕掌关节受累的严重程度也具有遗传性（h2 = 0.53，P = 0.0006）。当分析仅限于白种人样本时，得到了类似的结果。
结论
在手部 OA 患者及其兄弟姐妹的人群中，骨赘的存在是手部 OA 遗传率最敏感的生物标志物。通过关节位置、骨赘受累关节的严重程度以及手部 OA 总体受累程度和程度，发现了解剖表型的显著遗传率。这些发现与其他人报告的手部 OA 强烈遗传倾向一致。结果支持基于骨赘严重程度的表型和关节特异性方法。更具体的表型在手 OA 遗传学研究中可能具有更大的前景。
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