Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms

J Shoulder Elbow Surg. 2016 Feb;25(2):174-9. doi: 10.1016/j.jse.2015.07.005. Epub 2015 Sep 5.


Background: The precise etiology of rotator cuff disease is unknown, but prior evidence suggests a role for genetic factors. Limited data exist identifying specific genes associated with rotator cuff tearing. The purpose of this study was to identify specific genes or genetic variants associated with rotator cuff tearing by a genome-wide association study with an independent set of rotator cuff tear cases.

Materials and methods: A set of 311 full-thickness rotator cuff tear cases genotyped on the Illumina 5M single-nucleotide polymorphism (SNP) platform were used in a genome-wide association study with 2641 genetically matched white population controls available from the Illumina iControls database. Tests of association were performed with GEMMA software at 257,558 SNPs that compose the intersection of Illumina SNP platforms and that passed general quality control metrics. SNPs were considered significant if P < 1.94 × 10(-7) (Bonferroni correction: 0.05/257,558).

Results: Tests of association revealed 2 significantly associated SNPs, one occurring in SAP30BP (rs820218; P = 3.8E-9) on chromosome 17q25 and another occurring in SASH1 (rs12527089; P = 1.9E-7) on chromosome 6q24.

Conclusions: This study represents the first attempt to identify genetic factors influencing rotator cuff tearing by a genome-wide association study using a dense/complete set of SNPs. Two SNPs were significantly associated with rotator cuff tearing, residing in SAP30BP on chromosome 17 and SASH1 on chromosome 6. Both genes are associated with the cellular process of apoptosis. Identification of potential genes or genetic variants associated with rotator cuff tearing may help in identifying individuals at risk for the development of rotator cuff tearing.

Keywords: Rotator cuff tear; confirmation study; genetic association.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 17 / genetics
  • Chromosomes, Human, Pair 6 / genetics
  • Cross-Sectional Studies
  • Genome-Wide Association Study*
  • Humans
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Rotator Cuff Injuries*
  • Tendon Injuries / genetics*
  • Transcription Factors / genetics*
  • Tumor Suppressor Proteins / genetics*


  • Nuclear Proteins
  • SAP30BP protein, human
  • SASH1 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins