A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127)
Abstract Hip pain is a common musculoskeletal complaint that leads many people to seek medical attention. We conducted a primary genome-wide association study (GWAS) on the hip pain phenotype within the UK Biobank cohort. Sex-stratified GWAS analysis approach was also performed to explore sex specif...
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2025-01-01
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| author | Qi Pan Yiwen Tao Tengda Cai Abi Veluchamy Harry L. Hebert Peixi Zhu Mainul Haque Tania Dottorini Lesley A. Colvin Blair H. Smith Weihua Meng |
| author_facet | Qi Pan Yiwen Tao Tengda Cai Abi Veluchamy Harry L. Hebert Peixi Zhu Mainul Haque Tania Dottorini Lesley A. Colvin Blair H. Smith Weihua Meng |
| author_sort | Qi Pan |
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| description | Abstract Hip pain is a common musculoskeletal complaint that leads many people to seek medical attention. We conducted a primary genome-wide association study (GWAS) on the hip pain phenotype within the UK Biobank cohort. Sex-stratified GWAS analysis approach was also performed to explore sex specific variants associated with hip pain. We found seven different loci associated with hip pain at GWAS significance level, with the most significant single nucleotide polymorphism (SNP) being rs77641763 within the EXD3 (p value = 2.20 × 10–13). We utilized summary statistics from the FinnGen cohort and a previous GWAS meta-analysis on hip osteoarthritis as replication cohorts. Four loci (rs509345, rs73581564, rs9597759, rs2018384) were replicated with a p value less than 0.05. Sex-stratified GWAS analyses revealed a unique locus within the CUL1 gene (rs4726995, p = 2.56 × 10–9) in males, and three unique loci in females: rs1651359966 on chromosome 7 (p = 1.15 × 10–8), rs552965738 on chromosome 9 (p = 2.72 × 10–8), and rs1978969 on chromosome 13 (p = 2.87 × 10–9). This study has identified seven genetic loci associated with hip pain. Sex-stratified analysis also revealed sex specific variants associated with hip pain in males and females. This study has provided a foundation for advancing research of hip pain and hip osteoarthritis. |
| format | Article |
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| institution | Kabale University |
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| language | English |
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| spelling | doaj-art-497bbce465964a2980af34f95d1386382025-01-26T12:24:11ZengNature PortfolioScientific Reports2045-23222025-01-0115111510.1038/s41598-025-85871-wA genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127)Qi Pan0Yiwen Tao1Tengda Cai2Abi Veluchamy3Harry L. Hebert4Peixi Zhu5Mainul Haque6Tania Dottorini7Lesley A. Colvin8Blair H. Smith9Weihua Meng10Nottingham Ningbo China Beacons of Excellence Research and Innovation Institute, University of Nottingham Ningbo ChinaNottingham Ningbo China Beacons of Excellence Research and Innovation Institute, University of Nottingham Ningbo ChinaNottingham Ningbo China Beacons of Excellence Research and Innovation Institute, University of Nottingham Ningbo ChinaDivision of Population Health and Genomics, Ninewells Hospital and Medical School, University of DundeeDivision of Population Health and Genomics, Ninewells Hospital and Medical School, University of DundeeCollege of Pharmaceutical Sciences, Zhejiang University of TechnologySchool of Mathematical Sciences, University of Nottingham Ningbo ChinaSchool of Veterinary Medicine and Science, University of NottinghamDivision of Population Health and Genomics, Ninewells Hospital and Medical School, University of DundeeDivision of Population Health and Genomics, Ninewells Hospital and Medical School, University of DundeeNottingham Ningbo China Beacons of Excellence Research and Innovation Institute, University of Nottingham Ningbo ChinaAbstract Hip pain is a common musculoskeletal complaint that leads many people to seek medical attention. We conducted a primary genome-wide association study (GWAS) on the hip pain phenotype within the UK Biobank cohort. Sex-stratified GWAS analysis approach was also performed to explore sex specific variants associated with hip pain. We found seven different loci associated with hip pain at GWAS significance level, with the most significant single nucleotide polymorphism (SNP) being rs77641763 within the EXD3 (p value = 2.20 × 10–13). We utilized summary statistics from the FinnGen cohort and a previous GWAS meta-analysis on hip osteoarthritis as replication cohorts. Four loci (rs509345, rs73581564, rs9597759, rs2018384) were replicated with a p value less than 0.05. Sex-stratified GWAS analyses revealed a unique locus within the CUL1 gene (rs4726995, p = 2.56 × 10–9) in males, and three unique loci in females: rs1651359966 on chromosome 7 (p = 1.15 × 10–8), rs552965738 on chromosome 9 (p = 2.72 × 10–8), and rs1978969 on chromosome 13 (p = 2.87 × 10–9). This study has identified seven genetic loci associated with hip pain. Sex-stratified analysis also revealed sex specific variants associated with hip pain in males and females. This study has provided a foundation for advancing research of hip pain and hip osteoarthritis.https://doi.org/10.1038/s41598-025-85871-wHip painUK BiobankGenetic correlationsGenome-wide association studyPheWASSex-stratified |
| spellingShingle | Qi Pan Yiwen Tao Tengda Cai Abi Veluchamy Harry L. Hebert Peixi Zhu Mainul Haque Tania Dottorini Lesley A. Colvin Blair H. Smith Weihua Meng A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) Scientific Reports Hip pain UK Biobank Genetic correlations Genome-wide association study PheWAS Sex-stratified |
| title | A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) |
| title_full | A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) |
| title_fullStr | A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) |
| title_full_unstemmed | A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) |
| title_short | A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127) |
| title_sort | genome wide association study identifies genetic variants associated with hip pain in the uk biobank cohort n 221 127 |
| topic | Hip pain UK Biobank Genetic correlations Genome-wide association study PheWAS Sex-stratified |
| url | https://doi.org/10.1038/s41598-025-85871-w |
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