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 aetiology of and the true mode of inheritance of AIS remains unclear. Studies on concordance in twin pairs provide a basis for analysing 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 this study, 548 individuals representing 274 complete twin pairs where at least one twin self-reported having scoliosis were invited to a clinical and radiological examination. Zygosity was established by genetic testing. RESULTS: 182 individuals (33.2%) of the original cohort agreed to participate, 128 of whom had scoliosis by self-report. There were 91 twin pairs, where 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 degrees, 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 genetic factors may be of importance for scoliosis. LEVEL OF EVIDENCE: 3.
Spine (philadelphia), 2016, Vol 41, Issue 19, p. 1503-1507
Concordance Rates; Adolescent Idiopathic Scoliosis; Danish Twin Population