丹麦双胞胎人群中青少年特发性脊柱侧凸的一致性率

Concordance Rates of Adolescent Idiopathic Scoliosis in a Danish Twin Population.

作者信息

Simony Ane, Carreon Leah Y, H Jmark Karen, Kyvik Kirsten O, Andersen Mikkel Ø

机构信息

Center for Spine Surgery and Research, Region of Southern Denmark, Middelfart, Denmark.

Department of Clinical Research and Institute of Regional Health Research, University of Southern Denmark, Odense C, Denmark.

出版信息

Spine (Phila Pa 1976). 2016 Oct 1;41(19):1503-1507. doi: 10.1097/BRS.0000000000001681.

DOI:10.1097/BRS.0000000000001681

PMID:27163371

Abstract

STUDY DESIGN

Clinical, radiological, and genetic determination of zygosity of twin pairs from the Danish Twin Registry who self-reported having adolescent idiopathic scoliosis (AIS).

OBJECTIVE

To establish concordance rates of AIS.

SUMMARY OF BACKGROUND DATA

The etiology of and the true mode of inheritance of AIS remain unclear. Studies on concordance in twin pairs provide a basis for analyzing the influence of genetic versus environmental factors. In 2007, using self-report of AIS from the Danish Twin Registry, concordance rates of 0.13 in monozygotic twins and 0.00 in dizygotic twins were reported.

METHODS

All 46,418 twins registered in the Danish Twin Registry born from 1931 to 1982 were sent a survey, which included questions about scoliosis. The survey was returned by 34,944 individuals (75.3%) representing 23,204 pairs. From the present study, 548 individuals representing 274 complete twin pairs in which at least one twin self-reported having scoliosis were invited to a clinical and radiological examination. Zygosity was established by genetic testing.

RESULTS

A total of 182 individuals (33.2%) of the original cohort agreed to participate, 128 of whom had scoliosis by self-report. There were 91 twin pairs, in which one or both twins had reported scoliosis and 36 individuals whose twin did not want to participate. Only 35 (27%) of the 128 participants with self-reported scoliosis had a clinically and radiologically confirmed curve. Calculating concordance in twins with Cobb angles greater than 10°, we found that the pairwise concordance rate was 0.4 (0.10-0.70) for monozygotic and 0.05 (-0.05-0.15) for dizygotic twins, P = 0.05, probandwise concordance was 0.45 (0.16-0.74) for monozygotic and 0.1 (-0.03-0.23) for dizygotic pairs.

CONCLUSION

Concordance rates in a Danish twin population using genetic testing for zygosity are higher than previously reported using self-report. Although not statistically significant, the differences in monozygotic and dizygotic pairs indicate that genetic factors may be of importance for scoliosis.

LEVEL OF EVIDENCE

摘要

研究设计

对丹麦双胞胎登记处中自我报告患有青少年特发性脊柱侧凸（AIS）的双胞胎对进行合子性的临床、放射学和遗传学测定。

目的

确定AIS的一致性率。

背景数据总结

AIS的病因和真正的遗传模式仍不清楚。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。2007年，利用丹麦双胞胎登记处对AIS的自我报告，报告了单卵双胞胎的一致性率为0.13，双卵双胞胎的一致性率为0.00。

方法

向丹麦双胞胎登记处登记的1931年至1982年出生的所有46418对双胞胎发送了一项调查，其中包括有关脊柱侧凸的问题。34944人（75.3%）回复了调查，代表23204对双胞胎。在本研究中，邀请了代表274对完整双胞胎对的548人参加临床和放射学检查，其中至少有一名双胞胎自我报告患有脊柱侧凸。通过基因检测确定合子性。

结果

原始队列中共有182人（33.2%）同意参与，其中128人自我报告患有脊柱侧凸。有91对双胞胎，其中一对或两对双胞胎报告患有脊柱侧凸，还有36人其双胞胎不想参与。在128名自我报告患有脊柱侧凸的参与者中，只有35人（27%）经临床和放射学证实有脊柱侧弯。计算Cobb角大于10°的双胞胎的一致性，我们发现单卵双胞胎的成对一致性率为0.4（0.10 - 0.70），双卵双胞胎为0.05（-0.05 - 0.15），P = 0.05；先证者一致性方面，单卵双胞胎为0.45（0.16 - 0.74），双卵双胞胎为0.1（-0.03 - 0.23）。