Association between the rs820218 Variant within the ISAP30BP/I Gene and Rotator Cuff Rupture in an Amazonian Population

Background: Rotator cuff disease is one of the leading causes of musculoskeletal pain and disability, and its etiology is most likely multifactorial but remains incompletely understood. Therefore, the objective of this research was to investigate the relationship of the single-nucleotide rs820218 po...

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Bibliographic Details
Published in:Genes 2023-01, Vol.14 (2)
Main Authors: Barros, Rui Sergio Monteiro de, Sant’ Anna, Carla de Castro, Alcantara, Diego Di Felipe Ávila, Pantoja, Karla Beatriz Cardias Cereja, Fernandes, Marianne Rodrigues, Bentes, Lívia Guerreiro de Barros, Pimentel, Antônio Leonardo Jatahi Cavalcanti, Lemos, Rafael Silva, Almeida, Nyara Rodrigues Conde de, Fernandes, Manuela Rodrigues Neiva, da Cruz, Thiago Sequeira, Candido, Atylla de Andrade, Burbano, Rommel Mario Rodriguez
Format: Article
Language:English
Subjects:
Genetic aspects
Genetic variation
Health aspects
Injuries
Rotator cuff (Anatomy)
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Summary:Background: Rotator cuff disease is one of the leading causes of musculoskeletal pain and disability, and its etiology is most likely multifactorial but remains incompletely understood. Therefore, the objective of this research was to investigate the relationship of the single-nucleotide rs820218 polymorphism of the SAP30-binding protein (SAP30BP) gene with rotator cuff tears in the Amazonian population. Methods: The case group consisted of patients who were operated on due to rotator cuff tears in a hospital in the Amazon region between 2010 and 2021, and the control group was composed of individuals who were selected after negative physical examinations for rotator cuff tears. Genomic DNA was obtained from saliva samples. For the genotyping and allelic discrimination of the selected single nucleotide polymorphism (rs820218) in the SAP30BP gene, real-time PCR was performed. Results: The frequency of the A allele in the control group was four times as high as that in the case group (AA homozygotes); an association of the genetic variant rs820218 of the SAP30BP gene with rotator cuff tears was not established (p = 0.28 and 0.20), as the A allelic frequency is ordinarily low in the general population. Conclusions: The presence of the A allele indicates protection against rotator cuff tears.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14020367