Genetic epidemiology and heritability of AIS: A study of 415 Chinese female patients |
| |
| Authors: | Nelson L.S. Tang Hiu‐Yan Yeung Vivian W.Y. Hung Chen Di Liao Tsz‐Ping Lam Hau‐Man Yeung Kwong‐Man Lee Bobby Kin‐Wah Ng Jack Chun‐Yiu Cheng |
| |
| Affiliation: | 1. Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China;2. Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China;3. Functional Genomics and Biostatistical Computing Laboratory, Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China;4. Joint Scoliosis Research Center of the Chinese University of Hong Kong and Nanjing University, Hong Kong SAR, China;5. Department of Orthopaedics & Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China;6. Lee Hysan Clinical Research Laboratory, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China |
| |
| Abstract: | Recent familial segregation studies supported a multifactorial genetic model for the etiology of adolescent idiopathic scoliosis (AIS). However, the extent of quantitative genetic effects, such as heritability, have not been fully evaluated. This genetic epidemiology study examined the sibling recurrent risk and heritability of AIS in first‐degree relatives of 415 Chinese female patients, which is up to now the largest cohort. They were first diagnosed by community screening program and compared to 203 age‐matched normal controls. Out of the total 531 sibs of AIS cases, 94 sibs had scoliosis (sibling recurrence risk = 17.7%). The prevalence of AIS among male and female sibs of an index case were 11.5% (95% CI = 7.5–15.5) and 23.0% (95% CI = 18.1–27.9), respectively. Female sibs of an index case had an increased risk of 8.9‐fold (95% CI = 3.2–34.4) for developing AIS. These recurrent risks were significantly higher than the risk in the control group (p < 0.0001). Overall, heritability was estimated to be 87.5 ± 11.1%. The results confirmed the prevailing impression of strong genetic influence on the risk of AIS. Here we provided a large‐scale study for the genetic aggregation estimates in an Asian population for the first time. The finding also positioned AIS among other common disease or complex traits with a high heritability. © 2012 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 30:1464–1469, 2012 |
| |
| Keywords: | adolescent idiopathic scoliosis (AIS) heritability sibling recurrent risk |
|
|
