Abstract
BackgroundMultiple 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.MethodsA 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 χ2 tests for each SNP. Significant associations were searched in the GTEx database for their functional consequences.ResultsSNP rs820218 was significantly associated with rotator cuff tears (χ2 = 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 × 10−6).ConclusionOur 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.
Highlights
Multiple studies have indicated that genetic components contribute significantly to the risk of rotator cuff tears
Maffulli et al have focused their attention on the study of genetic susceptibility of rotator cuff tears [1, 7,8,9], and many susceptibility genes associated with rotator cuff tears have been identified through linkage analyses in candidate gene association studies and genome-wide association studies (GWAS) [10, 11]
Single nucleotide polymorphism (SNP) rs820218 was significantly associated with rotator cuff tears (χ2 = 9.49, P = 0.0021, Odds ratios (ORs) [95% CI] = 0.67 [0.52– 0.87], Table 2)
Summary
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. Some genetic studies have shown that genetic factors might contribute to the development of rotator cuff tears [2, 3]. Tian et al Journal of Orthopaedic Surgery and Research (2020) 15:356 pathology [1], it is urgent that the susceptibility gene to rotator cuff tears and the molecular mechanism of this disease are clearly identified. It is reasonable to suppose that the SAP30BP gene may be involved in the occurrence and development of rotator cuff tears by inducing apoptosis in tendons
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