陕西省麟游县大骨节病家庭聚集性病例对照家系研究

目的:探讨大骨节病(Kashin-Beck Disease,KBD)的家族聚集性及其相关的环境因素与遗传因素.方法:采用以人群为基础的病例和对照家系设计,运用条件logistic回归模型对陕西省麟游县212例KBD患者家系和212例对照家系数据进行拟合,以AIC值最小作为判断拟合优度的标准.结果:饮用河水是KBD家庭聚集性的危险因素,饮用自来水是保护因素；父母表型与子女KBD发病相关.结论:KBD的发生是环境因素与遗传因素多种因素作用的结果.饮用河水可能是引起陕西省麟游地区KBD家庭聚集性的主要原因.

A case-control family study of familial aggregation of Kashin-Beck disease in Linyou county,Shaanxi province

Objective To explore the familial aggregation of Kashin-Beck disease(KBD) and the role of environmental factors and genetic factors in the pathogenesis of KBD.Methods A population-based 1:1 pair matched case-control family study was conducted.Conditional logistic regressive model was used to fit genealogy of the nuclear families of 212 KBD patients and 212 controls,and the minimum AIC was used to be the standard to determine the goodness of fit.Results Main source of drinking river water was the risk factor of the familial aggregation for KBD,and drinking tap water was protective factor.The phenotype of parents was associated with an increased risk of KBD of children.Conclusion KBD is a multifactorial disease with various environmental and genetic factors involved in its etiology,and drinking river water is likely to be a main reason for the familial aggregation of KBD in Linyou county,Shaanxi province,southwest of China.