Jiang Qing, Shi Dongquan, Yi Long, Ikegawa Shiro, Wang Yong, Nakamura Takahiro, Qiao Di, Liu Cheng, Dai Jin
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Zhongshan Road 321, Nanjing, 210008, Jiangsu, China.
Department of Pathology, Medical School of Nanjing University, Nanjing, China.
J Hum Genet. 2006;51(12):1068-1072. doi: 10.1007/s10038-006-0065-6. Epub 2006 Sep 21.
A genetic association of osteoarthritis (OA) and functional polymorphisms in the aspartic acid (D) repeat of the asporin gene was reported in Japanese and European Caucasians; however, the results were controversial. Our objective was to evaluate whether the D repeat polymorphism was associated with knee OA in Han Chinese. The D repeat polymorphism was genotyped in 218 patients who suffered from primary symptomatic knee OA with radiographic confirmation and in 454 age-matched controls, and the allelic association of the repeat was examined. Frequencies of the D13 and D14 alleles were similar to those of Japanese, but different from those of European Caucasians. The D14 allele was significantly over-represented in knee OA patients (P=0.0013; odds ratio 2.04; 95% confidence interval 1.32-3.15). D14 was more frequent in early-onset patients than in late-onset patients (P=0.043) and the age at onset in patients with D14 was earlier (P=0.028; log-rank test). Thus, the association of the D14 allele with knee OA susceptibility was replicated in Han Chinese. This was the first instance that association of the OA susceptibility gene was definitely replicated between different ethnic groups.
在日本人和欧洲白种人中，已报道了骨关节炎（OA）与天冬氨酸（D）重复序列多态性在骨桥蛋白基因中的遗传关联；然而，结果存在争议。我们的目的是评估D重复序列多态性是否与汉族人群的膝关节OA相关。对218例经影像学证实患有原发性症状性膝关节OA的患者和454例年龄匹配的对照进行D重复序列多态性基因分型，并检测该重复序列的等位基因关联。D13和D14等位基因的频率与日本人相似，但与欧洲白种人不同。D14等位基因在膝关节OA患者中显著过度表达（P = 0.0013；优势比2.04；95%置信区间1.32 - 3.15）。D14在早发型患者中比晚发型患者更常见（P = 0.043），且D14患者的发病年龄更早（P = 0.028；对数秩检验）。因此，D14等位基因与膝关节OA易感性的关联在汉族人群中得到了重复验证。这是OA易感基因关联在不同种族群体之间首次得到明确重复验证的实例。
