• Antonio Eulalio Pedrosa Araujo Junior, de AzevedoGustavo Borges LaurindoGBLSpine Surgery Center, National Institute of Traumatology and Orthopedics (INTO), Rio de Janeiro, RJ, Brazil.Department of Orthopedics and Traumatology Surgery, Ribeirão Preto Medical School, University of São Paulo (USP, Luis Antonio Medeiros Moliterno, Renato Henriques Tavares, Jessica Vilarinho Cardoso, Giuliana Rodrigues de Souza, GuimarãesJoão Antonio MatheusJAMResearch Division, INTO, Rio de Janeiro, RJ, Brazil., DefinoHelton Luiz AparecidoHLADepartment of Orthopedics and Traumatology Surgery, Ribeirão Preto Medical School, University of São Paulo (USP), Ribeirão Preto, SP, Brazil., and Jamila Alessandra Perini.
• Spine Surgery Center, National Institute of Traumatology and Orthopedics (INTO), Rio de Janeiro, RJ, Brazil.
• Eur Spine J. 2024 Feb 1; 33 (2): 646654646-654.

PurposeAbnormal 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.MethodsA 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).ResultsThe 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.ConclusionThe 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.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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