A multi-trait approach identified seven novel genes for back pain-related phenotypes

Abstract

AbstractBack pain (BP) is a major contributor to disability worldwide. We conducted a cross-sectional study analyzing three BP-related phenotypes: chronic BP (CBP), dorsalgia and intervertebral disc disorders (IDD), with heritability estimated at 40-60%. Less than half of the heritability is explained by common genetic variants identified by GWAS. More powerful methods of statistical analysis may offer additional insight. Using imputed genotypes from the UK Biobank we performed a multi-trait gene-based association analysis of three BP-related phenotypes: CBP, dorsalgia, and IDD. We identified and replicated 16 genes associated with BP-related traits. Seven of the detected genes, namely,MIPOL1, PTPRC, RHOA, MAML3, JADE2, MLLT10, andRERG, were previously unreported. Several new genes have been previously detected as associated with traits genetically correlated with BP or as included in pathways associated with BP. Our results verify the role of these genes in BP-related traits and provide new insights into the genetics of back pain.