Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Fisioterapia em Movimento |
Texto Completo: | https://periodicos.pucpr.br/fisio/article/view/29386 |
Resumo: | Introduction: Fibromyalgia (FM) is a syndrome of unknown origin characterized by several symptoms, and although its pathogenesis has not been completely elucidated, it seems to be related to inflammatory pathways and neurochemical changes in the brain. Objective: To evaluate the association between BsmI, ApaI and FokI polymorphisms of the vitamin D receptor (VDR) gene, their polymorphisms, and clinical variables in women with and without FM. Methods: This is a case-control study composed of a group of 53 women with FM and another with 40 women without the disease. The MPQ, FIQ, VAS questionnaires and the sit-up test were applied. Real-time PCR was performed to analyze the ApaI and FokI polymorphism. Results: There was a statistical association between race, comorbidity and FM, where 78.4% of the individuals were white and had FM (p < 0.002) and 96.1% had some comorbidity (p < 0.001). Seventy-six point five percent (76.5%) of patients with FM underperformed in the sit-up test (p < 0.001). There was also an association between the genotypic and allele frequencies of the VDR and FM gene Apal and FokI polymorphisms (p < 0.001). In the VDR gene ApaI polymorphism, the CC genotype exhibited a higher frequency in women with FM, the C allele for the Apal polymorphism is 3.33 times more likely, and the FokI polymorphism is 10.9 times more likely to develop FM (p < 0,0001). Conclusion: Women with C allele for ApaI polymorphism are 3.33 times more likely to have FM (95%CI = 1.58-7.02; p = 0.0024), and in FokI polymorphism, the prevalence of T allele is 10.9 times greater (95% CI = 4.76-25.38; p < 0.0001). No significant associations were found in relation to BsmI polymorphism and frequency alleles (p = 0.062 and p = 0.078, respectively). |
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Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgiaAvaliação do polimorfismo ApaI e FokI do gene VDR e caracterização funcional em pacientes com fibromialgiaIntroduction: Fibromyalgia (FM) is a syndrome of unknown origin characterized by several symptoms, and although its pathogenesis has not been completely elucidated, it seems to be related to inflammatory pathways and neurochemical changes in the brain. Objective: To evaluate the association between BsmI, ApaI and FokI polymorphisms of the vitamin D receptor (VDR) gene, their polymorphisms, and clinical variables in women with and without FM. Methods: This is a case-control study composed of a group of 53 women with FM and another with 40 women without the disease. The MPQ, FIQ, VAS questionnaires and the sit-up test were applied. Real-time PCR was performed to analyze the ApaI and FokI polymorphism. Results: There was a statistical association between race, comorbidity and FM, where 78.4% of the individuals were white and had FM (p < 0.002) and 96.1% had some comorbidity (p < 0.001). Seventy-six point five percent (76.5%) of patients with FM underperformed in the sit-up test (p < 0.001). There was also an association between the genotypic and allele frequencies of the VDR and FM gene Apal and FokI polymorphisms (p < 0.001). In the VDR gene ApaI polymorphism, the CC genotype exhibited a higher frequency in women with FM, the C allele for the Apal polymorphism is 3.33 times more likely, and the FokI polymorphism is 10.9 times more likely to develop FM (p < 0,0001). Conclusion: Women with C allele for ApaI polymorphism are 3.33 times more likely to have FM (95%CI = 1.58-7.02; p = 0.0024), and in FokI polymorphism, the prevalence of T allele is 10.9 times greater (95% CI = 4.76-25.38; p < 0.0001). No significant associations were found in relation to BsmI polymorphism and frequency alleles (p = 0.062 and p = 0.078, respectively).Introdução: A fibromialgia (FM) é uma síndrome de origem desconhecida caracterizada por diversos sintomas, e embora sua patogênese não tenha sido completamente elucidada, parece estar relacionada a vias inflamatórias e alterações neuroquímicas no cérebro. Objetivo: Avaliar a associação entre os polimorfismos BsmI, ApaI e FokI do gene do receptor da vitamina D (VDR), seus polimorfismos e variáveis clínicas em mulheres com e sem FM. Métodos: Trata-se de um estudo caso-controle composto por um grupo de 53 mulheres com FM e outro com 40 mulheres sem a doença. Foram aplicados os questionários MPQ, FIQ, VAS e o teste de sentar. A PCR em tempo real foi realizada para analisar o polimorfismo ApaI e FokI. Resultados: Houve associação estatística entre raça, comorbidade e FM, onde 78,4% dos indivíduos eram brancos e apresentavam FM (p<0,002) e 96,1% tinham alguma comorbidade (p<0,001). Setenta e seis vírgula cinco por cento (76,5%) dos pacientes com FM tiveram desempenho inferior no teste de abdominais (p<0,001). Também houve associação entre as frequências genotípicas e alélicas dos polimorfismos Apal e FokI do gene VDR e FM (p<0,001). No polimorfismo ApaI do gene VDR, o genótipo CC apresentou maior frequência em mulheres com FM, o alelo C para o polimorfismo Apal é 3,33 vezes mais provável, e o polimorfismo FokI tem 10,9 vezes mais chance de desenvolver FM (p<0,0001). Conclusão: Mulheres com alelo C para polimorfismo ApaI têm 3,33 vezes mais chance de ter FM (IC 95% = 1,58-7,02; p = 0,0024), e no polimorfismo FokI, a prevalência do alelo T é 10,9 vezes maior (IC 95%=4,76-25,38; p<0,0001). Não foram encontradas associações significativas em relação ao polimorfismo BsmI e alelos de frequência (p=0,062 e p=0,078, respectivamente).Editora PUCPRESS2022-05-30info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://periodicos.pucpr.br/fisio/article/view/2938610.1590/fm.2022.35122Fisioterapia em Movimento (Physical Therapy in Movement); Vol. 35 (2022): n. cont.Fisioterapia em Movimento; v. 35 (2022): n. cont.1980-5918reponame:Fisioterapia em Movimentoinstname:Pontifícia Universidade Católica do Paraná (PUC-PR)instacron:PUC_PRenghttps://periodicos.pucpr.br/fisio/article/view/29386/25621Santos, Stheace Kelly Fernandes Szezerbaty Fernandes, Karen Barros ParronZicarelli, Carlos Alexandre Martins Santana, André Vinicius Perrucini, Priscila Daniele de Oliveira Poli-Frederico, Regina Célia info:eu-repo/semantics/openAccess2022-10-07T13:31:55Zoai:ojs.periodicos.pucpr.br:article/29386Revistahttps://periodicos.pucpr.br/fisioPRIhttps://periodicos.pucpr.br/fisio/oairubia.farias@pucpr.br||revista.fisioterapia@pucpr.br1980-59180103-5150opendoar:2022-10-07T13:31:55Fisioterapia em Movimento - Pontifícia Universidade Católica do Paraná (PUC-PR)false |
dc.title.none.fl_str_mv |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia Avaliação do polimorfismo ApaI e FokI do gene VDR e caracterização funcional em pacientes com fibromialgia |
title |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia |
spellingShingle |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia Santos, Stheace Kelly Fernandes Szezerbaty |
title_short |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia |
title_full |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia |
title_fullStr |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia |
title_full_unstemmed |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia |
title_sort |
Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia |
author |
Santos, Stheace Kelly Fernandes Szezerbaty |
author_facet |
Santos, Stheace Kelly Fernandes Szezerbaty Fernandes, Karen Barros Parron Zicarelli, Carlos Alexandre Martins Santana, André Vinicius Perrucini, Priscila Daniele de Oliveira Poli-Frederico, Regina Célia |
author_role |
author |
author2 |
Fernandes, Karen Barros Parron Zicarelli, Carlos Alexandre Martins Santana, André Vinicius Perrucini, Priscila Daniele de Oliveira Poli-Frederico, Regina Célia |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Santos, Stheace Kelly Fernandes Szezerbaty Fernandes, Karen Barros Parron Zicarelli, Carlos Alexandre Martins Santana, André Vinicius Perrucini, Priscila Daniele de Oliveira Poli-Frederico, Regina Célia |
description |
Introduction: Fibromyalgia (FM) is a syndrome of unknown origin characterized by several symptoms, and although its pathogenesis has not been completely elucidated, it seems to be related to inflammatory pathways and neurochemical changes in the brain. Objective: To evaluate the association between BsmI, ApaI and FokI polymorphisms of the vitamin D receptor (VDR) gene, their polymorphisms, and clinical variables in women with and without FM. Methods: This is a case-control study composed of a group of 53 women with FM and another with 40 women without the disease. The MPQ, FIQ, VAS questionnaires and the sit-up test were applied. Real-time PCR was performed to analyze the ApaI and FokI polymorphism. Results: There was a statistical association between race, comorbidity and FM, where 78.4% of the individuals were white and had FM (p < 0.002) and 96.1% had some comorbidity (p < 0.001). Seventy-six point five percent (76.5%) of patients with FM underperformed in the sit-up test (p < 0.001). There was also an association between the genotypic and allele frequencies of the VDR and FM gene Apal and FokI polymorphisms (p < 0.001). In the VDR gene ApaI polymorphism, the CC genotype exhibited a higher frequency in women with FM, the C allele for the Apal polymorphism is 3.33 times more likely, and the FokI polymorphism is 10.9 times more likely to develop FM (p < 0,0001). Conclusion: Women with C allele for ApaI polymorphism are 3.33 times more likely to have FM (95%CI = 1.58-7.02; p = 0.0024), and in FokI polymorphism, the prevalence of T allele is 10.9 times greater (95% CI = 4.76-25.38; p < 0.0001). No significant associations were found in relation to BsmI polymorphism and frequency alleles (p = 0.062 and p = 0.078, respectively). |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-05-30 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://periodicos.pucpr.br/fisio/article/view/29386 10.1590/fm.2022.35122 |
url |
https://periodicos.pucpr.br/fisio/article/view/29386 |
identifier_str_mv |
10.1590/fm.2022.35122 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://periodicos.pucpr.br/fisio/article/view/29386/25621 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Editora PUCPRESS |
publisher.none.fl_str_mv |
Editora PUCPRESS |
dc.source.none.fl_str_mv |
Fisioterapia em Movimento (Physical Therapy in Movement); Vol. 35 (2022): n. cont. Fisioterapia em Movimento; v. 35 (2022): n. cont. 1980-5918 reponame:Fisioterapia em Movimento instname:Pontifícia Universidade Católica do Paraná (PUC-PR) instacron:PUC_PR |
instname_str |
Pontifícia Universidade Católica do Paraná (PUC-PR) |
instacron_str |
PUC_PR |
institution |
PUC_PR |
reponame_str |
Fisioterapia em Movimento |
collection |
Fisioterapia em Movimento |
repository.name.fl_str_mv |
Fisioterapia em Movimento - Pontifícia Universidade Católica do Paraná (PUC-PR) |
repository.mail.fl_str_mv |
rubia.farias@pucpr.br||revista.fisioterapia@pucpr.br |
_version_ |
1799138749647421440 |