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Many scoliosis patients, like myself, do not have a family history. I have been wondering about the odds that my children might have scoliosis in the future. As I couldn't find any literature on it, I did some research on it myself. I hope you will find it useful.

Statistical Analysis of Scoliosis Heritability using GWAS

Previous studies on the heritability of scoliosis often focus on twins populations, which tend to highlight the rare genetic variants that run in certain families. However many scoliosis patients do not have a family history, making twin studies less applicable. In this study, I investigate heritability through the single nucleotide polymorphisms (SNP) found in several genome-wide association studies (GWAS) on scoliosis. Compared to twin studies, this research benefits from a significantly larger sample size and more diverse population groups. The results confirm scoliosis is a multi-factorial disease influenced by both genetic and environmental factors.


Population-based statistical studies involving twins often emphasize rare genetic variants with larger effects within certain families. On the other hand, studies utilizing GWAS datasets are more effective in detecting common variants with smaller effects, typically across a broader population.



The study is based on LD Score regression proposed by Bulik-Sullivan, B. et al, which showed that for a SNP, the expected chi-square statistics and the LD score have a linear relationship. 


Data Processing

I found four summary datasets containing studies of scoliosis from two public sources: GWAS Catalog and IEU OpenGWAS. I filtered the study data by common variants in HapMap3, conducted LD regression, and converted the heritability to liability scale, assuming a common population prevalence of 2.5% to account for studies with varying prevalence.



For the four datasets, the calculated average heritability, weighted by the study size, is 0.296 with a standard variation of 0.098. This falls within the range of heritability observed in twin studies, confirming that scoliosis is affected by both genetic and environmental factors.

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