中国重庆青少年特发性脊柱侧凸的遗传流行病学调查  

Genetic epidemiological survey of adolescent idiopathic scoliosis in Chongqing,China

作　　者：贾全章[1] 许建中[1] 孙景海[2] 侯明晓[2] 杨滔[1] 周强[1] 徐爽[2] 罗飞[1] 殷翔[1] 陈阳[2] 

机构地区：[1]第三军医大学西南医院全军矫形外科中心,重庆400038 [2]解放军第208医院全军骨科中心

出　　处：《解放军医学杂志》2009年第7期841-843,共3页Medical Journal of Chinese People's Liberation Army

摘　　要：目的对中国重庆青少年特发性脊柱侧凸(AIS)进行遗传流行病学调查,以确定遗传因素在发病中的作用及其遗传模式。方法采用传统的家系研究方案设计遗传流行病学调查表,调查73例先证者家系,分析年龄发病率、家族聚集性和遗传度,确定遗传因素在发病中的作用,依据各种遗传病的特点分析其遗传模式。结果73例先证者中男25例,女48例,共有家系成员1550人,其中76人发病。年龄发病率分析显示75%的患者在11～14岁发病,平均发病年龄10.8岁;调查家系总发病率为4.90%,而参照群体平均发病率为2.25%(P<0.01),提示本病有家族聚集性;先证者一级亲属遗传度84%,二级亲属遗传度88%,三级亲属遗传度85%。综合三项结果提示本病为一种遗传性疾病。对有家族史的家系进行分析显示,本病不具有各种单基因遗传病的特点;先证者一级亲属发病率16.93%,二级亲属发病率7.30%,三级亲属发病率4.36%,均高于参照人群发病率(2.25%);同胞发病率0.0%,远比1/2或1低;与先证者亲缘关系越近,发病率越高;有家族性聚集倾向;家族史发生率4.11%。结论AIS是一种多基因遗传病。Objective To investigate the genetic epidemiology of adolescent idiopathic scoliosis （AIS） in Chongqing, China, and determine the effect of genetic factors in the pathogenesis and the genetic model of AIS. Method Seventy-three proband families were investigated using a genetic epidemiolngical questionnaire designed by traditional pedigree analysis, and the age incidence, familial aggregation and heritahility were analyzed, the effect of genetic factors in pathogenesis and the genetic model were determined. Result The families of 73 prohands （25 males and 48 females） consisted of 1550 persons, of whom 76 suffered AIS. Age-depended incidence analysis indicated that 75% patients aged from 11 to 14 years at the onset with an averaged of 10. 8; the total incidence of the investigated families was 4. 90%, while the mean incidence of the reference group was 2. 25% （P〈0. 01）, suggesting the familial aggregation of AIS; in the proband families, the heritability in the first degree relatives was 84%, in the second degree relatives was 88%, and in the third degree relatives was 85 %. AIS was suggested as hereditary disease by comprehensive analysis. An analysis of families with positive history revealed that AIS showed no monogenic inheritance; the incidence was 16. 93% in the first degree relatives of probands, while 7. 21% in the second degree relatives and 4. 36% in the third degree relative, all were higher than that in the reference group （2. 25%） ; no one of probands sibling got AIS onset; the closer the genetic relationship to prohands, the higher the incidence of AIS, in which the trend of familial aggregation was observed; the positive rate of family history was 4. 11%. Conclusion AIS is a disease of polygenic inheritance.

关 键 词：脊柱侧凸 特发性 遗传性疾病 先天性 流行病学研究 多因子遗传 

分 类 号：R682.3[医药卫生—骨科学] R595.7[医药卫生—外科学]