基因内 rs820218 变异与亚马逊人群肩袖撕裂的关联。
Association between the rs820218 Variant within the Gene and Rotator Cuff Rupture in an Amazonian Population.
机构信息
Hospital Ophir Loyola, Belém 66063-240, Brazil.
Centro de Ciências Biológicas e da Saúde, Universidade do Estado do Pará, Belém 66087-662, Brazil.
出版信息
Genes (Basel). 2023 Jan 31;14(2):367. doi: 10.3390/genes14020367.
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 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 gene with rotator cuff tears was not established ( = 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.
背景
肩袖疾病是肌肉骨骼疼痛和残疾的主要原因之一，其病因很可能是多因素的，但仍不完全清楚。因此，本研究的目的是调查 SAP30 结合蛋白（SAP30BP）基因的单核苷酸 rs820218 多态性与亚马逊人群肩袖撕裂的关系。
方法
病例组由 2010 年至 2021 年在亚马逊地区一家医院因肩袖撕裂而接受手术的患者组成，对照组由经过肩袖撕裂阴性体检后选择的个体组成。从唾液样本中获得基因组 DNA。使用实时 PCR 对基因中选定的单核苷酸多态性（rs820218）进行基因分型和等位基因鉴别。
结果
对照组中 A 等位基因的频率是病例组的四倍（AA 纯合子）；未发现基因 rs820218 的遗传变异与肩袖撕裂有关（=0.28 和 0.20），因为 A 等位基因的频率在一般人群中通常较低。
结论
A 等位基因的存在表明对肩袖撕裂有保护作用。
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