Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study View Full Text


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Article Info

DATE

2022-05-07

AUTHORS

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

ABSTRACT

BackgroundFibrillin-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.MethodsDNA 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).ResultsAmong 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°).ConclusionAge was a risk factor for progression of the scoliotic curve and FBN1 rs12916536 polymorphism a protective factor for AIS susceptibility. More... »

PAGES

430

References to SciGraph publications

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    30 schema:description BackgroundFibrillin-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.MethodsDNA 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).ResultsAmong 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°).ConclusionAge was a risk factor for progression of the scoliotic curve and FBN1 rs12916536 polymorphism a protective factor for AIS susceptibility.
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    38 AIS
    39 AIS cases
    40 AIS development
    41 AIS group
    42 AIS susceptibility
    43 Cobb angle
    44 ConclusionAge
    45 ResultsAmong
    46 TaqMan allelic discrimination assay
    47 adjustment
    48 adolescent idiopathic scoliosis
    49 adolescent idiopathic scoliosis susceptibility
    50 age
    51 allelic discrimination assay
    52 allelic frequencies
    53 analysis
    54 angle
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    57 body mass index
    58 case-control study
    59 cases
    60 characteristics
    61 components
    62 confidence intervals
    63 control
    64 curve progression
    65 curves
    66 development
    67 differences
    68 discrimination assay
    69 disease
    70 distribution
    71 extracellular matrix glycoprotein
    72 factors
    73 females
    74 frequency
    75 gas
    76 gene polymorphisms
    77 genotypes
    78 glycoprotein
    79 group
    80 idiopathic scoliosis
    81 index
    82 interval
    83 linear regression analysis
    84 logistic regression models
    85 lower risk
    86 mass index
    87 matrix glycoprotein
    88 microfibrils
    89 model
    90 multivariate logistic regression model
    91 normal body mass index
    92 odds ratio
    93 patient age
    94 patient characteristics
    95 polymorphism
    96 polymorphism distribution
    97 potential role
    98 predominance
    99 predominance of females
    100 progression
    101 protective factors
    102 ratio
    103 regression analysis
    104 regression models
    105 relation
    106 risk
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    108 role
    109 scoliosis
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    111 severity
    112 sex
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