SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 32843068.
- Also identified by DOI 10.1186/s13018-020-01888-z and PMC identifier 7449091.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Multiple studies have indicated that genetic components contribute significantly to the risk of rotator cuff tears. Previous studies have suggested that the SAP30BP gene may play an essential role in the development of rotator cuff tears. The aim of this study was to evaluate the potential association of the SAP30BP gene with the susceptibility to rotator cuff tears in a Han Chinese population. A total of 394 patients with rotator cuff tears and 998 healthy controls were included in the study. Twelve tag single nucleotide polymorphisms (SNPs) located in the region of the SAP30BP gene were selected for genotyping. Genetic association analyses were performed using χ<sup>2</sup> tests for each SNP. Significant associations were searched in the GTEx database for their functional consequences. SNP rs820218 was significantly associated with rotator cuff tears (χ<sup>2</sup> = 9.49, P = 0.0021, OR [95% CI] = 0.67 [0.52-0.87]). In addition, SNP rs820218 was found to be significantly associated with the gene expression level of SAP30BP in whole blood (NES = 0.12, P = 1.00 × 10<sup>-6</sup>). Our study has shown that the genetic polymorphism of SAP30BP contributes to the risk of rotator cuff tears in Chinese Han people. Individuals with the A allele for SNP rs820218 were less susceptible to developing rotator cuff tears.
Medical subject headings
- Genetic Association Studies
- Genetic Predisposition to Disease
- Nuclear Proteins
- Rotator Cuff Injuries
- Transcription Factors
Anatomy
- shoulder