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Bone Remodeling and Bone Structural Genes in Legg-Calvé-Perthes Disease: The OPG rs2073618 and IL-6 rs1800795 Are

Blanca Lucía Cruz-Ortíz1, Edgar Hernández-Zamora2, Elba Reyes-Maldonado1

  • 1Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Ciudad de México, México.

DNA and Cell Biology
|April 22, 2024
PubMed

Insights

Genetic variations in interleukin-6 (IL-6) and osteoprotegerin (OPG) genes are linked to an increased risk of Legg-Calve-Perthes disease (LCPD) in Mexican children. These findings highlight potential genetic markers for LCPD susceptibility.

Area of Science:

  • Genetics
  • Pediatric Orthopedics
  • Molecular Biology

Background:

  • Legg-Calve-Perthes disease (LCPD) is an idiopathic avascular necrosis of the pediatric femoral head.
  • Bone remodeling and structural genes may influence LCPD progression due to imbalances in bone resorption and formation.

Purpose of the Study:

  • To investigate the association between common polymorphisms in key bone remodeling genes (RANK, RANKL, OPG, IL-6, COL1A1) and LCPD susceptibility in Mexican children.

Main Methods:

  • A case-control study involving 23 LCPD patients and 46 healthy controls.
  • Genotyping of seven polymorphisms (rs3018362, rs12585014, rs2073618, rs1800795, rs1800796, rs1800012, rs2586498) using real-time PCR with TaqMan probes.

Main Results:

  • The IL-6 rs1800795 variant allele (C) showed a significant association with increased LCPD risk (OR: 4.9, p=0.025) after adjusting for BMI and Factor V.
  • OPG rs2073618 (GC-GG carriers) was associated with a >4-fold increased LCPD risk (OR: 4.34, p=0.033) after adjustments.
  • No significant associations were found for RANK, RANKL, IL-6 rs1800796, and COL1A1 polymorphisms.

Conclusions:

  • IL-6 rs1800795 and OPG rs2073618 polymorphisms are potential genetic markers for increased LCPD risk in Mexican children.
  • These findings contribute to understanding the genetic underpinnings of LCPD susceptibility.

Keywords:
COL1A1IL-6Legg–Calvé–Perthes diseaseOPGRANK/RANKLbone remodelingpolymorphism

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