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Genome-Wide Association Analysis Identified ANXA1 Associated with Shoulder Impingement Syndrome in UK Biobank Samples

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 subje...

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Detalles Bibliográficos
Autores principales: Cheng, Bolun, Ning, Yujie, Liang, Chujun, Li, Ping, Liu, Li, Cheng, Shiqiang, Ma, Mei, Zhang, Lu, Qi, Xin, Wen, Yan, Zhang, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466970/
https://www.ncbi.nlm.nih.gov/pubmed/32690583
http://dx.doi.org/10.1534/g3.120.401257
Descripción
Sumario: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.