Ontology type: schema:ScholarlyArticle Open Access: True
2022-05-07
AUTHORSGustavo 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
ABSTRACTBackgroundFibrillin-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... »
PAGES430
http://scigraph.springernature.com/pub.10.1186/s12891-022-05370-1
DOIhttp://dx.doi.org/10.1186/s12891-022-05370-1
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1147717434
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/35526034
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Clinical Sciences",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adolescent",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Case-Control Studies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Fibrillin-1",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Single Nucleotide",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Scoliosis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Severity of Illness Index",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil",
"id": "http://www.grid.ac/institutes/grid.11899.38",
"name": [
"Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil",
"Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil"
],
"type": "Organization"
},
"familyName": "de Azevedo",
"givenName": "Gustavo Borges Laurindo",
"id": "sg:person.0732443265.51",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732443265.51"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Research Laboratory of Pharmaceutical Sciences (LAPESF), State University of Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil",
"id": "http://www.grid.ac/institutes/grid.412211.5",
"name": [
"Research Division, National Institute of Traumatology and Orthopaedics (INTO), Avenida Brasil, 500, zip code 20940-070, Rio de Janeiro, RJ, Brazil",
"Research Laboratory of Pharmaceutical Sciences (LAPESF), State University of Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil"
],
"type": "Organization"
},
"familyName": "Perini",
"givenName": "Jamila Alessandra",
"id": "sg:person.07701260154.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07701260154.48"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil",
"id": "http://www.grid.ac/institutes/grid.11899.38",
"name": [
"Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil",
"Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil"
],
"type": "Organization"
},
"familyName": "Ara\u00fajo Junior",
"givenName": "Ant\u00f4nio Eul\u00e1lio Pedrosa",
"id": "sg:person.011727317336.71",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011727317336.71"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil",
"id": "http://www.grid.ac/institutes/grid.11899.38",
"name": [
"Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil",
"Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil"
],
"type": "Organization"
},
"familyName": "Moliterno",
"givenName": "Luis Antonio Medeiros",
"id": "sg:person.014732746413.98",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014732746413.98"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil",
"id": "http://www.grid.ac/institutes/grid.11899.38",
"name": [
"Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil"
],
"type": "Organization"
},
"familyName": "Andrande",
"givenName": "Rodrigo Mantelatto",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Research Division, National Institute of Traumatology and Orthopaedics (INTO), Avenida Brasil, 500, zip code 20940-070, Rio de Janeiro, RJ, Brazil",
"id": "http://www.grid.ac/institutes/grid.489021.6",
"name": [
"Research Division, National Institute of Traumatology and Orthopaedics (INTO), Avenida Brasil, 500, zip code 20940-070, Rio de Janeiro, RJ, Brazil"
],
"type": "Organization"
},
"familyName": "Guimar\u00e3es",
"givenName": "Jo\u00e3o Antonio Matheus",
"id": "sg:person.0620751334.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620751334.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil",
"id": "http://www.grid.ac/institutes/grid.11899.38",
"name": [
"Departments of Orthopaedic and Anesthesiology, Ribeir\u00e3o Preto Medical School, University of S\u00e3o Paulo, de S\u00e3o Paulo, Brazil"
],
"type": "Organization"
},
"familyName": "Defino",
"givenName": "Helton Luiz Aparecido",
"id": "sg:person.010665510434.69",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010665510434.69"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1007/s11999-009-1095-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042365309",
"https://doi.org/10.1007/s11999-009-1095-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.974",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034396869",
"https://doi.org/10.1038/ng.974"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s12891-016-0935-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045366733",
"https://doi.org/10.1186/s12891-016-0935-9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13013-016-0105-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022915218",
"https://doi.org/10.1186/s13013-016-0105-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13013-016-0063-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009783159",
"https://doi.org/10.1186/s13013-016-0063-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s11832-016-0763-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007463162",
"https://doi.org/10.1007/s11832-016-0763-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s12891-020-03937-4",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1134450199",
"https://doi.org/10.1186/s12891-020-03937-4"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13102-021-00276-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1138028619",
"https://doi.org/10.1186/s13102-021-00276-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s12891-020-3141-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1125095671",
"https://doi.org/10.1186/s12891-020-3141-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2639",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021934631",
"https://doi.org/10.1038/ng.2639"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms7452",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013948698",
"https://doi.org/10.1038/ncomms7452"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41467-019-11596-w",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1120336419",
"https://doi.org/10.1038/s41467-019-11596-w"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/tpj.2010.89",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004494760",
"https://doi.org/10.1038/tpj.2010.89"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00586-012-2465-y",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040945434",
"https://doi.org/10.1007/s00586-012-2465-y"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms9355",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028354454",
"https://doi.org/10.1038/ncomms9355"
],
"type": "CreativeWork"
}
],
"datePublished": "2022-05-07",
"datePublishedReg": "2022-05-07",
"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\u2019s 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\u2019s 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\u00b0 and 74% were skeletally mature. Age was a risk factor (4-fold) for curve progression higher than BMI (P\u2009<\u20090.001). The allelic frequency of the rs12916536 G\u2009>\u2009A polymorphism was 40% in controls and 31% in AIS cases; and this difference was statistically significant (P\u2009=\u20090.004). FBN1 rs12916536 GA\u2009+\u2009AA genotypes were associated with a lower risk of AIS susceptibility (OR\u2009=\u20090.58 and 95% CI\u2009=\u20090.35\u20130.98), after adjustment for age, sex and BMI. However, no significant differences were detected in polymorphism distribution with the severity of the disease (Cobb <\u200945\u00b0 or\u2009\u2265\u200945\u00b0).ConclusionAge was a risk factor for progression of the scoliotic curve and FBN1 rs12916536 polymorphism a protective factor for AIS susceptibility.",
"genre": "article",
"id": "sg:pub.10.1186/s12891-022-05370-1",
"inLanguage": "en",
"isAccessibleForFree": true,
"isPartOf": [
{
"id": "sg:journal.1024957",
"issn": [
"1471-2474"
],
"name": "BMC Musculoskeletal Disorders",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "23"
}
],
"keywords": [
"AIS susceptibility",
"adolescent idiopathic scoliosis susceptibility",
"extracellular matrix glycoprotein",
"matrix glycoprotein",
"polymorphism",
"allelic frequencies",
"potential role",
"allelic discrimination assay",
"structural components",
"discrimination assay",
"TaqMan allelic discrimination assay",
"body mass index",
"susceptibility",
"polymorphism distribution",
"microfibrils",
"glycoprotein",
"AIS development",
"progression",
"genotypes",
"predominance of females",
"assays",
"variation",
"gene polymorphisms",
"Cobb angle",
"AA genotype",
"odds ratio",
"risk factors",
"factors",
"normal body mass index",
"role",
"multivariate logistic regression model",
"females",
"case-control study",
"adolescent idiopathic scoliosis",
"association",
"logistic regression models",
"patient characteristics",
"patient age",
"mass index",
"AIS group",
"curve progression",
"AIS cases",
"lower risk",
"idiopathic scoliosis",
"linear regression analysis",
"development",
"scoliotic curve",
"protective factors",
"components",
"study",
"differences",
"confidence intervals",
"age",
"significant differences",
"regression analysis",
"disease",
"analysis",
"predominance",
"distribution",
"severity",
"regression models",
"control",
"sex",
"ConclusionAge",
"ResultsAmong",
"characteristics",
"scoliosis",
"risk",
"group",
"subjects",
"frequency",
"AIS",
"interval",
"relation",
"model",
"index",
"adjustment",
"ratio",
"cases",
"curves",
"angle",
"gas"
],
"name": "Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study",
"pagination": "430",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1147717434"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1186/s12891-022-05370-1"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"35526034"
]
}
],
"sameAs": [
"https://doi.org/10.1186/s12891-022-05370-1",
"https://app.dimensions.ai/details/publication/pub.1147717434"
],
"sdDataset": "articles",
"sdDatePublished": "2022-06-01T22:24",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220601/entities/gbq_results/article/article_925.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1186/s12891-022-05370-1"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s12891-022-05370-1'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12891-022-05370-1'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12891-022-05370-1'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12891-022-05370-1'
This table displays all metadata directly associated to this object as RDF triples.
288 TRIPLES
22 PREDICATES
132 URIs
109 LITERALS
16 BLANK NODES