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Study identified two single-nucleotide polymorphisms associated with rotator cuff tears
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Recently published results in the Journal of Shoulder and Elbow Surgery identified two single-nucleotide polymorphisms significantly associated with rotator cuff tears.
Researchers used a set of 311 full-thickness rotator cuff tear cases genotyped on the Illumina 5M single-nucleotide polymorphism platform and genetically matched them with 2,641 White population controls from the Illumina iControls database. Researchers performed tests of association at 257,558 single-nucleotide polymorphisms that compose the intersection of Illumina single-nucleotide polymorphism platforms and that passed general quality control metrics.
Robert Z. Tashjian
Results showed rs820218 on chromosome 17q25.1 at 73,687,545 base pairs residing in the SAP30BP gene and rs10484958 on chromosome 6q24.3 at 47,120,936 base pairs residing in the SASH1 gene had significant associations with rotator cuff tears. Researchers found a minor allele frequency of 17.5% for rs820218 cases and of 35% for controls. Cases for rs10484958 had a minor allele frequency of 28.5% vs. 15.9% in controls, according to results. Although several single-nucleotide polymorphisms that passed quality control also exceeded the threshold for significance, when examining genotype scatterplots, researchers noted evidence of batch effects between genotyping runs. – by Casey Tingle
Disclosure: The researchers report no relevant financial disclosures.
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