Shi Dongquan, Nakamura Takahiro, Dai Jin, Yi Long, Qin Jianghui, Chen Dongyang, Xu Zhihong, Wang Yong, Ikegawa Shiro, Jiang Qing
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.
Laboratory for Statistical Analysis, SNP Research Center, Riken, Japan.
J Hum Genet. 2007;52(8):664-667. doi: 10.1007/s10038-007-0166-x. Epub 2007 Jun 30.
Recent genetic studies for osteoarthritis (OA) have been focused on ASPN, the gene encoding asporin, where aspartic acid (D)-repeat polymorphisms are associated with OA in several ethnic groups. The purpose of the present study is to further examine the association of the D-repeat polymorphism in a Han Chinese population. The D-repeat polymorphism was genotyped in 354 knee OA patients (257 women and 97 men) who suffered from primary symptomatic knee OA with radiographic confirmation, and the association of the repeat with various clinical parameters was examined. The age at onset (years) in patients with the D14 allele (mean: 51.9, SD: 8.5) was younger than that those without the D14 allele (mean: 54.9, SD: 10.9) (P = 0.023). Survival analysis showed D14 was significantly associated with age at onset of OA (P = 0.004 in the dominant model). The average age at onset of patients with the D13/D13 genotype (mean: 56.1, SD: 11.1) was older than those without the D13/D13 genotype (mean: 53.0, SD: 9.9) (P = 0.013). Our study further highlighted the significance of asporin in OA.
近期针对骨关节炎(OA)的基因研究聚焦于编码骨桥蛋白的基因ASPN,其中天冬氨酸(D)重复多态性在多个种族群体中与OA相关。本研究的目的是进一步探究汉族人群中天冬氨酸重复多态性的相关性。对354例经影像学证实患有原发性症状性膝关节OA的患者(257名女性和97名男性)进行了天冬氨酸重复多态性基因分型,并研究了该重复序列与各种临床参数的相关性。携带D14等位基因的患者发病年龄(岁)(平均值:51.9,标准差:8.5)比未携带D14等位基因的患者(平均值:54.9,标准差:10.9)要小(P = 0.023)。生存分析显示,D14与OA发病年龄显著相关(显性模型中P = 0.004)。携带D13/D13基因型的患者平均发病年龄(平均值:56.1,标准差:11.1)比未携带D13/D13基因型的患者(平均值:53.0,标准差:9.9)要大(P = 0.013)。我们的研究进一步凸显了骨桥蛋白在OA中的重要性。