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Background <p>Pediatric idiopathic scoliosis is a multifactorial condition shaped by genetic susceptibility, metabolic balance, and environmental influences. Variants near the LBX1 gene and within the melatonin receptor MTNR1B have been implicated in curve heterogeneity, yet their interaction with metabolic biomarkers and lifestyle factors remains insufficiently explored. This study aimed to evaluate the combined role of genetic polymorphisms, metabolic markers, and lifestyle-related variables in relation to scoliosis phenotype (Lenke type 1 vs. Lenke type 3) and curve severity.</p> Methods <p>A prospective observational study was conducted on 107 pediatric pa-tients (6–18 years) consecutively admitted between 2021 and 2024 to a tertiary center in South-eastern Romania. Clinical, radiographic, metabolic (serum calcium, magnesium, vitamin D), life-style (sleep duration, school program), perinatal data, and genetic polymorphisms (LBX1 rs11190870 and MTNR1B rs10830963) were analyzed.</p> Results <p>Genetic analysis demonstrated a significant association between LBX1 rs11190870 polymorphism and curve morphology, while MTNR1B rs10830963 showed a more modest phenotype-modifying effect. Serum calcium, mag-nesium, and vitamin D levels did not differ significantly between Lenke subtypes, although ex-tended school programs were associated with reduced sleep duration and lower vitamin D levels. Cesarean delivery was more frequent in patients with Lenke type 3 and was linked to higher major coronal curves. Magnesium showed a mild inverse correlation with curve severity without reaching statistical significance.</p> Conclusions <p>These findings support a multifactorial model in which structural genetic pathways, metabolic status, and lifestyle factors collectively influence scoliosis phenotype. Integrating genetic analysis with clinical and metabolic assessment may improve early risk stratification and guide future preventive strategies in pediatric scoliosis.</p>

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Toward personalized risk stratification in pediatric idiopathic scoliosis: integrating LBX1 and MTNR1B polymorphisms with metabolic and lifestyle factors

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月24日

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  • Iulian Manac,
  • Florina Anca Manac,
  • Nicoleta Leopa,
  • Sanda Jurja,
  • Traian Virgiliu Surdu,
  • Monica Surdu,
  • Ioana Georgia Oglindă,
  • Alexandru Vicențiu Vâlcu,
  • Stere Popescu,
  • Florin Daniel Enache

摘要

Background

Pediatric idiopathic scoliosis is a multifactorial condition shaped by genetic susceptibility, metabolic balance, and environmental influences. Variants near the LBX1 gene and within the melatonin receptor MTNR1B have been implicated in curve heterogeneity, yet their interaction with metabolic biomarkers and lifestyle factors remains insufficiently explored. This study aimed to evaluate the combined role of genetic polymorphisms, metabolic markers, and lifestyle-related variables in relation to scoliosis phenotype (Lenke type 1 vs. Lenke type 3) and curve severity.

Methods

A prospective observational study was conducted on 107 pediatric pa-tients (6–18 years) consecutively admitted between 2021 and 2024 to a tertiary center in South-eastern Romania. Clinical, radiographic, metabolic (serum calcium, magnesium, vitamin D), life-style (sleep duration, school program), perinatal data, and genetic polymorphisms (LBX1 rs11190870 and MTNR1B rs10830963) were analyzed.

Results

Genetic analysis demonstrated a significant association between LBX1 rs11190870 polymorphism and curve morphology, while MTNR1B rs10830963 showed a more modest phenotype-modifying effect. Serum calcium, mag-nesium, and vitamin D levels did not differ significantly between Lenke subtypes, although ex-tended school programs were associated with reduced sleep duration and lower vitamin D levels. Cesarean delivery was more frequent in patients with Lenke type 3 and was linked to higher major coronal curves. Magnesium showed a mild inverse correlation with curve severity without reaching statistical significance.

Conclusions

These findings support a multifactorial model in which structural genetic pathways, metabolic status, and lifestyle factors collectively influence scoliosis phenotype. Integrating genetic analysis with clinical and metabolic assessment may improve early risk stratification and guide future preventive strategies in pediatric scoliosis.