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

G3 : Genes - Genomes - Genetics
Bolun ChengFeng Zhang

Abstract

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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Citations

Jan 23, 2021·Journal of Shoulder and Elbow Surgery·Stuart K KimRobert Z Tashjian

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Methods Mentioned

BETA
genotyping

Software Mentioned

KING
R
FUMA
GSEA
PLINK2

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