Medical College, Key Laboratory of Environment and Gene Related Diseases of Ministry Education, Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, China.
Bone. 2011 Feb;48(2):347-53. doi: 10.1016/j.bone.2010.09.015. Epub 2010 Sep 18.
To compare the prevalence, the clinical manifestations, familial aggregation and heritability of Kashin-Beck disease (KBD) and Sayiwak disease (SD) in China.
10,823 people from 1361 families in 14 villages in Linyou County, Shaanxi Province, were examined for KBD, and 2264 people from 552 families in Sayiwak village, Kashi city, Xinjiang, were examined for SD. The investigation included documentation of individual information and clinical manifestations. Patients were subject to radiographic imaging of the right hand. t-Tests and chi-square tests were used to examine correlations of the diseases with age and gender in each of the two groups. Analysis of familial aggregation was conducted with the chi-square distribution analysis of goodness of fit using the SAS8.0 program. The Li-Mantel-Gart method was employed for the segregation analysis. The Falconer regression method11 was employed to estimate heritability (h²).
The prevalence of KBD in Linyou County was 10.90%, and of SD in Sayiwak village was 0.57%. Of the 21 clinical signs examined, KBD cases exhibited 19 signs (90.48%) and SD cases exhibited 18 signs (85.71%), which indicate similarities between the two diseases. However, different clinical signs were evident between the KBD and SD cases, with different impairment rates among joints of limbs in KBD and similar rates in SD. A comparison of radiological features of limb arthropathy between the two diseases showed differences in several characteristics between the two diseases. In addition, measurements of stature and sitting height showed significant differences in bone development between the two diseases. For KBD cases, the values of h² in the first-degree and the second-degree relatives were 41.76% and 37.20% (P<0.05). The CI of h² was 31.17-52.38 and 19.86-54.55, with a segregation ratio of P=0.12, SE(P)=0.014, 95%CI 0.09-0.15, less than 0.25(χ²=42.36, df=1, P<0.001). For SD cases, the values of h² were 155.61%, 273.63% and 236.83%. The 95% CIs of h² were 133.20-178.12, 229.83-317.42 and 145.83-327.81, respectively, with a segregation ratio of P=0.34, SE(P)=0.059, and CIs between 0.22 and 0.45(χ²=4.9817, df=1, P>0.05).
The results indicate both similarities and differences in the clinical manifestations of KBD and SD. However, environmental factors appear to play a major role in KBD, while hereditability is a major factor in SD.
比较中国大骨节病（KBD）和恰瓦克病（SD）的患病率、临床表现、家族聚集性和遗传度。
在陕西省麟游县 14 个村庄的 1361 个家庭中，对 10823 人进行了 KBD 检查，在新疆喀什市恰瓦克村的 552 个家庭中，对 2264 人进行了 SD 检查。调查包括个人信息和临床表现的记录。对右手进行影像学检查。t 检验和卡方检验用于检查两组疾病与年龄和性别的相关性。采用 SAS8.0 程序的拟合优度卡方分布分析对家族聚集性进行分析。采用 Li-Mantel-Gart 方法进行分离分析。采用 Falconer 回归法 11 估计遗传度（h²）。
麟游县 KBD 患病率为 10.90%，恰瓦克村 SD 患病率为 0.57%。在检查的 21 个临床体征中，KBD 病例表现出 19 个体征（90.48%），SD 病例表现出 18 个体征（85.71%），表明两种疾病之间存在相似性。然而，KBD 和 SD 病例之间存在不同的临床体征，KBD 病例的四肢关节损伤程度不同，而 SD 病例的损伤程度相似。对两种疾病的肢体关节炎放射学特征进行比较，发现两种疾病之间存在一些特征差异。此外，身高和坐高测量显示两种疾病的骨骼发育存在显著差异。对于 KBD 病例，一级亲属和二级亲属的 h²值分别为 41.76%和 37.20%（P<0.05）。h²的 CI 为 31.17-52.38 和 19.86-54.55，分离比 P=0.12，SE(P)=0.014，95%CI 0.09-0.15，小于 0.25（χ²=42.36，df=1，P<0.001）。对于 SD 病例，h²的值分别为 155.61%、273.63%和 236.83%。h²的 95%CI 分别为 133.20-178.12、229.83-317.42 和 145.83-327.81，分离比 P=0.34，SE(P)=0.059，CI 在 0.22 和 0.45 之间（χ²=4.9817，df=1，P>0.05）。
结果表明 KBD 和 SD 的临床表现既有相似之处，也有不同之处。然而，环境因素似乎在 KBD 中起主要作用，而遗传度是 SD 的主要因素。
