Spine 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), Ribeirão Preto, SP, Brazil.
Eur Spine J. 2024 Feb;33(2):646-654. doi: 10.1007/s00586-023-07955-3. Epub 2023 Oct 6.
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.
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).
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.
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.
瘦素生物利用度异常在青少年特发性脊柱侧凸（AIS）的发病机制中起着关键作用。瘦素及其受体水平可能受到遗传多态性的调节。本研究旨在评估瘦素（LEP）及其主要受体（LEPR）基因中的多态性在女孩 AIS 易感性中的作用。
采用回顾性病例对照研究，共纳入 189 例 AIS 患者和 240 例对照。采用 TaqMan 验证的检测方法对 LEP rs2167270 和 LEPR rs2767485 多态性进行基因分型。通过比值比（OR）和 95%置信区间（CI）评估关联。
AIS 组以 18 岁以下的女孩为主（n=140，74.1%），148 例（78.3%）BMI 低或正常，111 例（58.7%） Cobb 角≥45°，130 例（68.7%）骨骼成熟。rs2167270 和 rs2767485 的次要等位基因频率分别为 AIS 组 35.7%和 18.3%，对照组 35.6%和 25.4%。LEPR rs2767485 T 和 TC+TT 与 AIS 风险增加相关（OR=1.53；95%CI=1.09-2.13 和 OR=1.84；95%CI=1.69-2.01），因为 CC 基因型仅存在于对照组中。此外，在 AIS 女孩体重较轻（BMI≤24.9）组中，LEP rs2167270 GA+AA 更为常见。LEP rs2167270 与 AIS 易感性、LEPR rs2767485 与 BMI 之间无显著相关性。
LEPR rs2767485 与 AIS 的遗传易感性相关，LEP rs2167270 与低 BMI 相关。这些数据可以有助于确定遗传生物标志物，以改善诊断和治疗。
