SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese popul
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(2020) 15:356
RESEARCH ARTICLE
Open Access
SAP30BP gene is associated with the susceptibility of rotator cuff tear: a casecontrol study based on Han Chinese population Bin Tian, Xin Kang, Liang Zhang, Jiang Zheng and Zandong Zhao*
Abstract Background: 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. Methods: 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 χ2 tests for each SNP. Significant associations were searched in the GTEx database for their functional consequences. Results: SNP 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). Conclusion: 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. Keywords: SAP30BP, Single nucleotide polymorphism, Genetic susceptibility, Rotator cuff tear
Background With the aging of society and the overuse injuries of shoulders occurring in sports as well as in jobs, the incidence of rotator cuff tears has increased from 5 to 39%, seriously harming human health and quality of life [1]. Recently, some genetic studies have shown that genetic factors might contribute to the development of rotator cuff tears [2, 3]. It has been reported that the prevalence rates of rotator cuff tears in first- and second-degree * Correspondence: [email protected] Department of Sports Medicine, Honghui Hospital, Xi’an Jiaotong University Health Science Center, No.555, Youyi East Road, Xi’an, Shaanxi, China
relatives of patients were significantly higher than that in the general population [4]. Moreover, researchers have also found that rotator cuff tears in siblings are more likely to progress over a period of 5 years [5]. In addition, a related study reported that the second- and third-degree relatives of younger rotator cuff tear patients (younger than 40 years old) have a significantly increased relative risk for developing tears than those of older patients [6]. However, the understanding of the etiology and pathogenesis of rotator cuff tears remains unclear [7]. Given that genetics has been investigated as a factor involved in the pathogenesis of rotator cuff
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