Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles
Idiopathic scoliosis (IS) is a multifactorial disease with a genetic background. The association of Ladybird Homeobox 1 (<i>LBX1</i>) polymorphisms with IS has been proven in multiple studies. However, the epigenetic mechanisms have not been evaluated. This study aimed to evaluate the &l...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-08-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/13/9/1556 |
| _version_ | 1797488039921975296 |
|---|---|
| author | Piotr Janusz Małgorzata Tokłowicz Mirosław Andrusiewicz Małgorzata Kotwicka Tomasz Kotwicki |
| author_facet | Piotr Janusz Małgorzata Tokłowicz Mirosław Andrusiewicz Małgorzata Kotwicka Tomasz Kotwicki |
| author_sort | Piotr Janusz |
| collection | DOAJ |
| description | Idiopathic scoliosis (IS) is a multifactorial disease with a genetic background. The association of Ladybird Homeobox 1 (<i>LBX1</i>) polymorphisms with IS has been proven in multiple studies. However, the epigenetic mechanisms have not been evaluated. This study aimed to evaluate the <i>LBX1</i> methylation level in deep paravertebral muscles in order to analyze its association with IS occurrence and/or IS severity. Fifty-seven IS patients and twenty non-IS patients were examined for the paravertebral muscles’ methylation level of the <i>LBX1</i> promoter region. There was no significant difference in methylation level within paravertebral muscles between patients vs. controls, except for one CpG site. The comparison of the paravertebral muscles’ <i>LBX1</i> promoter region methylation level between patients with a major curve angle of ≤70° vs. >70° revealed significantly higher methylation levels in 17 of 23 analyzed CpG sequences at the convex side of the curvature in patients with a major curve angle of >70° for the reverse strand promoter region. The association between <i>LBX1</i> promoter methylation and IS severity was demonstrated. In patients with severe IS, the deep paravertebral muscles show an asymmetric <i>LBX1</i> promoter region methylation level, higher at the convex scoliosis side, which reveals the role of locally acting factors in IS progression. |
| first_indexed | 2024-03-09T23:56:26Z |
| format | Article |
| id | doaj.art-68db058ec469422a9a2895d590781a24 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T23:56:26Z |
| publishDate | 2022-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-68db058ec469422a9a2895d590781a242023-11-23T16:24:06ZengMDPI AGGenes2073-44252022-08-01139155610.3390/genes13091556Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral MusclesPiotr Janusz0Małgorzata Tokłowicz1Mirosław Andrusiewicz2Małgorzata Kotwicka3Tomasz Kotwicki4Department of Spine Disorders and Pediatric Orthopedics, Poznan University of Medical Sciences, 28 Czerwca 1956 r. Street 135/147, 61-545 Poznań, PolandChair and Department of Cell Biology, Poznan University of Medical Sciences, Rokietnicka 5D, 60-806 Poznań, PolandChair and Department of Cell Biology, Poznan University of Medical Sciences, Rokietnicka 5D, 60-806 Poznań, PolandChair and Department of Cell Biology, Poznan University of Medical Sciences, Rokietnicka 5D, 60-806 Poznań, PolandDepartment of Spine Disorders and Pediatric Orthopedics, Poznan University of Medical Sciences, 28 Czerwca 1956 r. Street 135/147, 61-545 Poznań, PolandIdiopathic scoliosis (IS) is a multifactorial disease with a genetic background. The association of Ladybird Homeobox 1 (<i>LBX1</i>) polymorphisms with IS has been proven in multiple studies. However, the epigenetic mechanisms have not been evaluated. This study aimed to evaluate the <i>LBX1</i> methylation level in deep paravertebral muscles in order to analyze its association with IS occurrence and/or IS severity. Fifty-seven IS patients and twenty non-IS patients were examined for the paravertebral muscles’ methylation level of the <i>LBX1</i> promoter region. There was no significant difference in methylation level within paravertebral muscles between patients vs. controls, except for one CpG site. The comparison of the paravertebral muscles’ <i>LBX1</i> promoter region methylation level between patients with a major curve angle of ≤70° vs. >70° revealed significantly higher methylation levels in 17 of 23 analyzed CpG sequences at the convex side of the curvature in patients with a major curve angle of >70° for the reverse strand promoter region. The association between <i>LBX1</i> promoter methylation and IS severity was demonstrated. In patients with severe IS, the deep paravertebral muscles show an asymmetric <i>LBX1</i> promoter region methylation level, higher at the convex scoliosis side, which reveals the role of locally acting factors in IS progression.https://www.mdpi.com/2073-4425/13/9/1556idiopathic scoliosisscoliosis progressionDNA methylationladybird homeobox 1 gene (<i>LBX1</i>)pyrosequencing |
| spellingShingle | Piotr Janusz Małgorzata Tokłowicz Mirosław Andrusiewicz Małgorzata Kotwicka Tomasz Kotwicki Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles Genes idiopathic scoliosis scoliosis progression DNA methylation ladybird homeobox 1 gene (<i>LBX1</i>) pyrosequencing |
| title | Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles |
| title_full | Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles |
| title_fullStr | Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles |
| title_full_unstemmed | Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles |
| title_short | Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles |
| title_sort | association of lbx1 gene methylation level with disease severity in patients with idiopathic scoliosis study on deep paravertebral muscles |
| topic | idiopathic scoliosis scoliosis progression DNA methylation ladybird homeobox 1 gene (<i>LBX1</i>) pyrosequencing |
| url | https://www.mdpi.com/2073-4425/13/9/1556 |
| work_keys_str_mv | AT piotrjanusz associationoflbx1genemethylationlevelwithdiseaseseverityinpatientswithidiopathicscoliosisstudyondeepparavertebralmuscles AT małgorzatatokłowicz associationoflbx1genemethylationlevelwithdiseaseseverityinpatientswithidiopathicscoliosisstudyondeepparavertebralmuscles AT mirosławandrusiewicz associationoflbx1genemethylationlevelwithdiseaseseverityinpatientswithidiopathicscoliosisstudyondeepparavertebralmuscles AT małgorzatakotwicka associationoflbx1genemethylationlevelwithdiseaseseverityinpatientswithidiopathicscoliosisstudyondeepparavertebralmuscles AT tomaszkotwicki associationoflbx1genemethylationlevelwithdiseaseseverityinpatientswithidiopathicscoliosisstudyondeepparavertebralmuscles |