Andersen Mikkel O, Thomsen Karsten, Kyvik Kirsten O
Spine Section, Department of Orthopaedic Surgery, University Hospital of Odense, Odense, Denmark.
Spine (Phila Pa 1976). 2007 Apr 15;32(8):927-30. doi: 10.1097/01.brs.0000259865.08984.00.
A questionnaire-based identification of adolescent idiopathic scoliosis (AIS) patients in a twin cohort.
The purpose of this study was to establish a scoliosis twin cohort to provide data on the heritability of AIS.
The etiology of AIS is still unclear, and the true mode of inheritance has yet to be established. Concordance rates in monozygotic twins have been reported to be between 0.73 and 0.92, and in dizygotic twins between 0.36 and 0.63. Studies on concordance in twin pairs provide a basis for analyzing the influence of genetic versus environmental factors.
All 46,418 twins registered in the Danish Twin Registry born from 1931 to 1982 were sent a questionnaire, which included questions about scoliosis. A total of 34,944 (75.3%) representing 23,204 pairs returned the questionnaire.
A subgroup of 220 subjects considered to have AIS was identified, thus giving a prevalence of 1.05%. The concordant twin pairs were all monozygotic. Pairwise, the concordance rate was 0.13 for monozygotic and zero for dizygotic twin pairs; proband-wise concordance was 0.25 for monozygotic and zero for dizygotic pairs. The concordance of monozygotic and dizygotic pairs was significantly different (P < 0.05).
We have found evidence for a genetic etiology in AIS, but the risk of developing scoliosis in 1 twin whose other twin has scoliosis is smaller than believed up until now.
基于问卷调查对双生子队列中的青少年特发性脊柱侧凸(AIS)患者进行识别。
本研究旨在建立一个脊柱侧凸双生子队列,以提供有关AIS遗传度的数据。
AIS的病因仍不清楚,其真正的遗传模式尚未确立。据报道,单卵双胞胎的一致率在0.73至0.92之间,双卵双胞胎的一致率在0.36至0.63之间。对双胞胎对一致性的研究为分析遗传因素与环境因素的影响提供了基础。
向丹麦双生子登记处登记的1931年至1982年出生的所有46418对双胞胎发送了一份问卷,其中包括有关脊柱侧凸的问题。共有34944名(75.3%)代表23204对双胞胎返回了问卷。
确定了一个220名被认为患有AIS的受试者亚组,患病率为1.05%。一致的双胞胎对均为单卵双胞胎。成对来看,单卵双胞胎的一致率为0.13,双卵双胞胎对的一致率为零;先证者一致率方面,单卵双胞胎为0.25,双卵双胞胎为零。单卵双胞胎和双卵双胞胎对的一致性有显著差异(P<0.05)。
我们发现了AIS存在遗传病因的证据,但在一对双胞胎中,其中一个患有脊柱侧凸时,另一个患脊柱侧凸的风险比目前认为的要小。