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Open Access 01-12-2024 | Adolescent Idiopathic Scoliosis | Research

SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians

Authors: Hemender Singh, Shipra, Manish Gupta, Nital Gupta, Geetanjali Gupta, Ajay K. Pandita, Rajesh Sharma, Sarla Pandita, Vinod Singh, Bhavuk Garg, Ekta Rai, Swarkar Sharma

Published in: European Journal of Medical Research | Issue 1/2024

Abstract

Background

Adolescent idiopathic scoliosis (AIS) is a common structural deformity of the spine affecting adolescent individuals globally. The disorder is polygenic and is accompanied by the association of various genetic loci. Genetic studies in Chinese and Japanese populations have shown the association of genetic variants of SOX9 with AIS curve severity. However, no genetic study evaluating the association of SRY-Box Transcription Factor 9 (SOX9) variants with AIS predisposition has been conducted in any Indian population. Thus, we aimed to investigate the association of the genetic variants of the SOX9 along with 0.88 Mb upstream region with AIS susceptibility in the population of Northwest India.

Methods

In total, 113 AIS cases and 500 non-AIS controls were recruited from the population of Northwest India in the study and screened for 155 genetic variants across the SOX9 gene and 0.88 Mb upstream region of the gene using Global Screening Array-24 v3.0 chip (Illumina). The statistical significance of the Bonferroni threshold was set at 0.000322.

Result

The results showed the association of 11 newly identified variants; rs9302936, rs7210997, rs77736349, rs12940821, rs9302937, rs77447012, rs8071904, rs74898711, rs9900249, rs2430514, and rs1042667 with the AIS susceptibility in the studied population. Only one variant, rs2430514, was inversely associated with AIS in the population, while the ten variants were associated with the AIS risk. Moreover, 47 variants clustered in the gene desert region of the SOX9 gene were associated at a p-value ≤ 0.05.

Conclusion

The present study is the first to demonstrate the association of SOX9 enhancer locus variants with AIS in any South Asian Indian population. The results are interesting as rs1042667, a 3' untranslated region (UTR) variant in the exon 3 and upstream variants of the SOX9 gene, were associated with AIS susceptibility in the Northwest Indian population. This provides evidence that the variants in the enhancer region of SOX9 might regulate its gene expression, thus leading to AIS pathology and might act as an important gene for AIS susceptibility.

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Title: SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians
Authors: Hemender Singh
Shipra
Manish Gupta
Nital Gupta
Geetanjali Gupta
Ajay K. Pandita
Rajesh Sharma
Sarla Pandita
Vinod Singh
Bhavuk Garg
Ekta Rai
Swarkar Sharma
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Adolescent Idiopathic Scoliosis
Scoliosis
Published in: European Journal of Medical Research / Issue 1/2024
Electronic ISSN: 2047-783X
DOI: https://doi.org/10.1186/s40001-024-01635-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians

Abstract

Background

Methods

Result

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Result

Conclusion

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