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Association of polymorphism in leptin receptor gene with susceptibility of adolescent idiopathic scoliosis

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Abstract

Purpose

Abnormal leptin bioavailability has play key roles in the etiology of adolescent idiopathic scoliosis (AIS). Both leptin and its receptor levels may be modulated by the presence of genetic polymorphisms. This study aimed to evaluate the role of polymorphisms in the leptin (LEP) and its main receptor (LEPR) genes in the AIS susceptibility in girls.

Methods

A retrospective case–control study was conducted with 189 AIS and 240 controls. LEP rs2167270 and LEPR rs2767485 polymorphisms were genotyped using a TaqMan validated assay. Associations were evaluated by odds ratios (OR) and 95% confidence intervals (CI).

Results

The AIS group showed a predominance of girls under 18 years old (n = 140, 74.1%), 148 (78.3%) had low or normal BMI, 111 (58.7%) had Cobb ≥ 45º and 130 (68.7%) were skeletally mature. Minor allele frequencies of rs2167270 and rs2767485 were 35.7% and 18.3%, for AIS and 35.6% and 25.4% for controls, respectively. LEPR rs2767485 T and TC + TT were associated with higher risk of AIS (OR = 1.53; 95% CI = 1.09–2.13 and OR = 1.84; 95% CI = 1.69–2.01, respectively), since CC genotype was only present in the control group. In addition, the LEP rs2167270 GA + AA was more frequent in low weight group (BMI ≤ 24.9) of girls with AIS. There was no significant association between LEP rs2167270 and AIS susceptibility, and LEPR rs2767485 and BMI.

Conclusion

The LEPR rs2767485 was associated with the genetic susceptibility of AIS and LEP rs2167270 with low BMI. These data can contribute to the identification of genetic biomarkers to improve the diagnosis and treatment.

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Funding

This work was supported by the Brazilian agency Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro—FAPERJ, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—CAPES and Conselho Nacional de Desenvolvimento Científico e Tecnológico—CNPq. Funding body contributed to acquisition of research inputs.

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Authors and Affiliations

  1. Spine Surgery Center, National Institute of Traumatology and Orthopedics (INTO), Rio de Janeiro, RJ, Brazil

    Antonio Eulalio Pedrosa Araujo Junior, Gustavo Borges Laurindo de Azevedo, Luis Antonio Medeiros Moliterno & Renato Henriques Tavares

  2. Department of Orthopedics and Traumatology Surgery, Ribeirão Preto Medical School, University of São Paulo (USP), Ribeirão Preto, SP, Brazil

    Antonio Eulalio Pedrosa Araujo Junior, Gustavo Borges Laurindo de Azevedo, Luis Antonio Medeiros Moliterno & Helton Luiz Aparecido Defino

  3. Pharmaceutical Sciences Research Laboratory (LAPESF), State University of Rio de Janeiro (UERJ), Av. Manuel Caldeira de Alvarenga, 1.203, Rio de Janeiro, 23070-200, Brazil

    Jessica Vilarinho Cardoso, Giuliana Rodrigues de Souza & Jamila Alessandra Perini

  4. Research Division, INTO, Rio de Janeiro, RJ, Brazil

    Giuliana Rodrigues de Souza & João Antonio Matheus Guimarães

Authors
  1. Antonio Eulalio Pedrosa Araujo Junior
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  2. Gustavo Borges Laurindo de Azevedo
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  3. Luis Antonio Medeiros Moliterno
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  8. Helton Luiz Aparecido Defino
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  9. Jamila Alessandra Perini
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Contributions

AEPAJ, HLAD and JAP participated in conception and design of study. AEPAJ, GBLA, LAMM, RHT and JAP collated the data and developed the database. JVC, GRS and JAP performed the experiments and statistical analysis. AEPAJ, JVC and JAP carried out the analysis and interpretation of the data and wrote the manuscript. JAMG and HLAD participated in the critical revision of the manuscript for important intellectual content. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Jamila Alessandra Perini.

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Conflict of interest

The authors have no competing interests to declare that are relevant to the content of this article.

Ethics approval and consent to participate

This study was approved by the Human Research Ethics Committee of the Instituto Nacional de Traumatologia e Ortopedia, Rio de Janeiro, Brazil (protocol number 73527617.4.0000.5273). All participating provided written informed consent. The study was conducted in accordance with the Helsinki Declaration.

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Araujo Junior, A.E.P., de Azevedo, G.B.L., Moliterno, L.A.M. et al. Association of polymorphism in leptin receptor gene with susceptibility of adolescent idiopathic scoliosis. Eur Spine J 33, 646–654 (2024). https://doi.org/10.1007/s00586-023-07955-3

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