Key result
Genome-wide association analysis identified multiple risk loci associated with shoulder impingement syndrome, including rs750968 in the ANXA1 gene (OR 0.833, P = 4.82 x 10^-8).
Why the study?
Shoulder impingement syndrome is a common shoulder disorder with an unclear genetic mechanism.
What genetic loci and pathways are associated with shoulder impingement syndrome?
Case-Control (n=7,252)
What genetic loci and pathways are associated with shoulder impingement syndrome?
Odds Ratio: 0.833
p-value: p=4.82 x 10^-8
The ANXA1 gene and pathways related to infection response and hypoxia are associated with shoulder impingement syndrome.
May inform genetic studies of SIS susceptibility; leaves open clinical translation pending replication and validation.
Shoulder impingement syndrome (SIS) is a common shoulder disorder with unclear genetic mechanism. In this study, Genome-wide Association Study (GWAS) was conducted to identify the candidate loci associated with SIS by using the UK Biobank samples (including 3,626 SIS patients and 3,626 control subjects). Based on the GWAS results, gene set enrichment analysis was further performed to detect the candidate gene ontology and pathways associated with SIS. We identified multiple risk loci associated with SIS, such as rs750968 (P = 4.82 × 10−8), rs754832 (P = 4.83 × 10−8) and rs1873119 (P = 6.39 × 10−8) of ANXA1 gene. Some candidate pathways have been identified related to SIS, including those linked to infection response and hypoxia, “ZHOU_INFLAMMATORY_RESPONSE_FIMA_DN” (P = 0.012) and “MANALO_HYPOXIA_UP” (P = 5.00 × 10−5). Our results provide novel clues for understanding the genetic mechanism of SIS.
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Cheng et al. (2020) conducted a case-control in Shoulder impingement syndrome (SIS) (n=7,252). Genetic variants (e.g., rs750968 in ANXA1 gene) vs. Controls was evaluated on Association with shoulder impingement syndrome (OR 0.833, p=4.82 x 10^-8). Genome-wide association analysis identified multiple risk loci associated with shoulder impingement syndrome, including rs750968 in the ANXA1 gene (OR 0.833, P = 4.82 x 10^-8).
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