Idiopathic scoliosis: a systematic review and meta-analysis of heritability

Author:

Cheng Tian1ORCID,Einarsdottir Elisabet2ORCID,Kere Juha34,Gerdhem Paul15ORCID

Affiliation:

1. Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden

2. Department of Gene Technology, School of Engineering Sciences in Chemistry, Biotechnology and Health, Royal Institute of Technology, Stockholm, Sweden

3. Department of Biosciences and Nutrition (BioNut), Karolinska Institutet, Stockholm, Sweden

4. Folkhälsan Research Center, Helsinki, Finland

5. Department of Reconstructive Orthopaedics, Karolinska University Hospital, Stockholm, Sweden

Abstract

Purpose Idiopathic scoliosis is the most common spinal deformity and affects 1–3% of children and adolescents. Idiopathic scoliosis may run in families and the purpose of this systematic review was to describe the degree of heritability. Methods We searched Medline, Web of Science and EMBASE for family and twin studies reporting heritability estimates for idiopathic scoliosis, or studies from which heritability estimates could be calculated. Reference lists were screened for additional papers. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The protocol was registered at PROSPERO (registration number: CRD42022307329). Results The literature search identified 1134 reports. After full-text screening, nine eligible reports were included for data extraction. Seven were twin studies containing between 5 and 526 pairs, and two were family studies with 1149 and 2732 individuals, respectively. Quality was ‘good’ in four studies and ‘fair’ in five studies. In general, studies with radiograph-confirmed diagnosis reported higher heritability estimates than studies with self-reported diagnosis. Population-based twin studies reported lower heritability estimates than clinic-based twin studies. Family-based studies reported higher heritability estimates than twin studies. Pairwise concordance for scoliosis ranged from 0.11 to 1.00 in monozygotic twins and from 0 to 1.0 in dizygotic twins. A meta-analysis of three studies resulted in a narrow sense heritability estimate of 0.57 (95% CI: 0.29–0.86). Conclusion Twin and family studies indicate a hereditary component in idiopathic scoliosis, but study heterogeneity is large, and the degree of the heritability is uncertain. Nevertheless, known genetic variants associated with idiopathic scoliosis can still only explain a minor part of heritability.

Publisher

Bioscientifica

Subject

Orthopedics and Sports Medicine,Surgery

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