Validation of Genome-wide Association Studies–associated Variants and Its Association with Curve Progression in Chinese Adolescent Idiopathic Scoliosis Patients
Refereed conference paper presented and published in conference proceedings


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AbstractIntroduction: This study aimed to validate the 8 previously reported genome-wide association studies (GWAS)–associated single nucleotide polymorphisms (SNPs) in the adolescent idiopathic scoliosis (AIS) Chinese population, and to determine whether these variants are associated with curve progression.

Methods: A total of 520 girls (201 non-AIS controls and 319 AIS patients with a Cobb’s angle of ≥10 degrees) were recruited for this study. The AIS patients were further subdivided into progressive and non-progressive groups: (1) scoliotic curves >40 degrees as progressive group, and (2) scoliotic curves of <40 degrees with skeletal maturation as non-progressive group. We then evaluated the association of 8 SNPs by comparing risk allele frequencies between the (1) AIS and non-AIS groups and (2) progressive and non-progressive groups, and (3) mean Cobb’s angle for each genotype.

Results: When compared between non-AIS controls and AIS subjects, the risk allele frequencies were significantly different for 4 SNPs (p<0.05). However, when compared between severity and mean Cobb’s angle, there was no association found in any of these SNPs.

Discussion and Conclusion: This is the first study to validate and report the associations of these GWAS-associated SNPs in the Chinese population. Although the association of the 4 SNPs replicates the results of GWAS towards AIS predisposition, it remained indefinite towards severity. Hence, further replication study across different ethnic groups is warranted to clarify whether these SNPs could potentially be genetic markers for predicting the occurrence / progression of AIS to institute appropriate timely treatment.
All Author(s) ListGCW Man, NLS Tang, TF Chan, TP Lam, Y Qiu, JCY Cheng
Name of ConferenceHong Kong Orthopaedic Association 37th Annual Congress 2017
Start Date of Conference04/11/2017
End Date of Conference05/11/2017
Place of ConferenceHong Kong
Country/Region of ConferenceHong Kong
Proceedings TitleThe Proceedings of the Hong Kong Orthopaedic Association 37th Annual Congress 2017
Year2017
Month11
Place of PublicationHong Kong
Pages102 - 102
LanguagesEnglish-United Kingdom

Last updated on 2018-08-06 at 15:12