Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study
Abstract Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility. This study aimed to evaluate the potential role of the FBN1 rs...
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BMC
2022-05-01
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| Series: | BMC Musculoskeletal Disorders |
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| Online Access: | https://doi.org/10.1186/s12891-022-05370-1 |
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| author | Gustavo Borges Laurindo de Azevedo Jamila Alessandra Perini Antônio Eulálio Pedrosa Araújo Junior Luis Antonio Medeiros Moliterno Rodrigo Mantelatto Andrande João Antonio Matheus Guimarães Helton Luiz Aparecido Defino |
| author_facet | Gustavo Borges Laurindo de Azevedo Jamila Alessandra Perini Antônio Eulálio Pedrosa Araújo Junior Luis Antonio Medeiros Moliterno Rodrigo Mantelatto Andrande João Antonio Matheus Guimarães Helton Luiz Aparecido Defino |
| author_sort | Gustavo Borges Laurindo de Azevedo |
| collection | DOAJ |
| description | Abstract Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility. This study aimed to evaluate the potential role of the FBN1 rs12916536 polymorphism in AIS development or severity and the variation in Cobb angle in relation to patient’s characteristics. Methods DNA from 563 subjects (185 AIS patients and 378 controls) were genotyped using a validated TaqMan allelic discrimination assay. A multivariate logistic regression model evaluated the association between polymorphism and AIS, using the adjusted odds ratios (OR) with their respective 95% confidence intervals (95% CI). A linear regression analysis evaluated the variation in Cobb angle according to the patient’s age and body mass index (BMI). Results Among the AIS group there was a predominance of females (12:1), low or normal BMI (90%), 58% had a Cobb angle greater than 45° and 74% were skeletally mature. Age was a risk factor (4-fold) for curve progression higher than BMI (P < 0.001). The allelic frequency of the rs12916536 G > A polymorphism was 40% in controls and 31% in AIS cases; and this difference was statistically significant (P = 0.004). FBN1 rs12916536 GA + AA genotypes were associated with a lower risk of AIS susceptibility (OR = 0.58 and 95% CI = 0.35–0.98), after adjustment for age, sex and BMI. However, no significant differences were detected in polymorphism distribution with the severity of the disease (Cobb < 45° or ≥ 45°). Conclusion Age was a risk factor for progression of the scoliotic curve and FBN1 rs12916536 polymorphism a protective factor for AIS susceptibility. |
| first_indexed | 2024-04-13T23:57:41Z |
| format | Article |
| id | doaj.art-9f401957b23c4e3cba9e0e67373fded6 |
| institution | Directory Open Access Journal |
| issn | 1471-2474 |
| language | English |
| last_indexed | 2024-04-13T23:57:41Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Musculoskeletal Disorders |
| spelling | doaj.art-9f401957b23c4e3cba9e0e67373fded62022-12-22T02:23:50ZengBMCBMC Musculoskeletal Disorders1471-24742022-05-012311810.1186/s12891-022-05370-1Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control studyGustavo Borges Laurindo de Azevedo0Jamila Alessandra Perini1Antônio Eulálio Pedrosa Araújo Junior2Luis Antonio Medeiros Moliterno3Rodrigo Mantelatto Andrande4João Antonio Matheus Guimarães5Helton Luiz Aparecido Defino6Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO)Research Division, National Institute of Traumatology and Orthopaedics (INTO)Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO)Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO)Departments of Orthopaedic and Anesthesiology, Ribeirão Preto Medical School, University of São PauloResearch Division, National Institute of Traumatology and Orthopaedics (INTO)Departments of Orthopaedic and Anesthesiology, Ribeirão Preto Medical School, University of São PauloAbstract Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility. This study aimed to evaluate the potential role of the FBN1 rs12916536 polymorphism in AIS development or severity and the variation in Cobb angle in relation to patient’s characteristics. Methods DNA from 563 subjects (185 AIS patients and 378 controls) were genotyped using a validated TaqMan allelic discrimination assay. A multivariate logistic regression model evaluated the association between polymorphism and AIS, using the adjusted odds ratios (OR) with their respective 95% confidence intervals (95% CI). A linear regression analysis evaluated the variation in Cobb angle according to the patient’s age and body mass index (BMI). Results Among the AIS group there was a predominance of females (12:1), low or normal BMI (90%), 58% had a Cobb angle greater than 45° and 74% were skeletally mature. Age was a risk factor (4-fold) for curve progression higher than BMI (P < 0.001). The allelic frequency of the rs12916536 G > A polymorphism was 40% in controls and 31% in AIS cases; and this difference was statistically significant (P = 0.004). FBN1 rs12916536 GA + AA genotypes were associated with a lower risk of AIS susceptibility (OR = 0.58 and 95% CI = 0.35–0.98), after adjustment for age, sex and BMI. However, no significant differences were detected in polymorphism distribution with the severity of the disease (Cobb < 45° or ≥ 45°). Conclusion Age was a risk factor for progression of the scoliotic curve and FBN1 rs12916536 polymorphism a protective factor for AIS susceptibility.https://doi.org/10.1186/s12891-022-05370-1Adolescent idiopathic scoliosisFibrillin-1Polymorphism |
| spellingShingle | Gustavo Borges Laurindo de Azevedo Jamila Alessandra Perini Antônio Eulálio Pedrosa Araújo Junior Luis Antonio Medeiros Moliterno Rodrigo Mantelatto Andrande João Antonio Matheus Guimarães Helton Luiz Aparecido Defino Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study BMC Musculoskeletal Disorders Adolescent idiopathic scoliosis Fibrillin-1 Polymorphism |
| title | Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study |
| title_full | Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study |
| title_fullStr | Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study |
| title_full_unstemmed | Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study |
| title_short | Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study |
| title_sort | association of fbn1 polymorphism with susceptibility of adolescent idiopathic scoliosis a case control study |
| topic | Adolescent idiopathic scoliosis Fibrillin-1 Polymorphism |
| url | https://doi.org/10.1186/s12891-022-05370-1 |
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