Результаты исследований: Научные публикации в периодических изданиях › статья по материалам конференции › Рецензирование
New genes for back pain-related phenotypes identified by multi-trait gene-based association analysis. / Belonogova, Nadezhda M.; Елгаева, Елизавета Евгеньевна; Zorkoltseva, Irina V. и др.
в: European journal of human genetics, Том 32, № S2, EP17.011, 2024, стр. 1177.Результаты исследований: Научные публикации в периодических изданиях › статья по материалам конференции › Рецензирование
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TY - JOUR
T1 - New genes for back pain-related phenotypes identified by multi-trait gene-based association analysis
AU - Belonogova, Nadezhda M.
AU - Елгаева, Елизавета Евгеньевна
AU - Zorkoltseva, Irina V.
AU - Kirichenko, Anatoly
AU - Svishcheva, Gulnara R.
AU - Freidin, Maxim B.
AU - Williams, Frances M.K.
AU - Suri, Pradeep
AU - Axenovich, Tatiana I.
AU - Цепилов, Яков Александрович
N1 - Conference code: 57
PY - 2024
Y1 - 2024
N2 - Background/Objectives: Back pain (BP) is a major contributor to disability worldwide. Three BP-related phenotypes: chronic BP (CBP), dorsalgia and intervertebral disc disorders (IDD), have 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.Methods: Using multi-trait and imputed genotypes from the UK Biobank we performed a gene-based association analysis. A multi-trait analysis combining three BP-related phenotypes: CBP, dorsalgia, and IDD, was conducted using the SHAHER approach, which maximizes the heritability of the multi-trait phenotype.Results: We identified and replicated 16 genes associated with BP-related traits. Seven of the detected genes, namely, MIPOL1, PTPRC, RHOA, MAML3, JADE2, MLLT10, and RERG, were previously unreported. Several new genes have been previously detected as associated with traits genetically correlated with BP or included in pathways associated with BP. Our results verify the role of these genes in BP-related traits.Conclusion: Of 16 genes significantly associated with BP-related traits, 13 were detected on the multi-trait phenotype that is in accordance with high genetic correlation between BP-related traits.Grants: The work was supported by the budget project of the Institute of Cytology and Genetics FWNR-2022-0020, the Russian Science Foundation (No. 22-15-20037) and Government of the Novosibirsk region grant, Versus Arthritis grant number 22467, NIH/NIAMS P30AR072572. This research has been conducted using the UK Biobank Resource under Applications #18219 and #59345.Conflict of Interest: None declared
AB - Background/Objectives: Back pain (BP) is a major contributor to disability worldwide. Three BP-related phenotypes: chronic BP (CBP), dorsalgia and intervertebral disc disorders (IDD), have 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.Methods: Using multi-trait and imputed genotypes from the UK Biobank we performed a gene-based association analysis. A multi-trait analysis combining three BP-related phenotypes: CBP, dorsalgia, and IDD, was conducted using the SHAHER approach, which maximizes the heritability of the multi-trait phenotype.Results: We identified and replicated 16 genes associated with BP-related traits. Seven of the detected genes, namely, MIPOL1, PTPRC, RHOA, MAML3, JADE2, MLLT10, and RERG, were previously unreported. Several new genes have been previously detected as associated with traits genetically correlated with BP or included in pathways associated with BP. Our results verify the role of these genes in BP-related traits.Conclusion: Of 16 genes significantly associated with BP-related traits, 13 were detected on the multi-trait phenotype that is in accordance with high genetic correlation between BP-related traits.Grants: The work was supported by the budget project of the Institute of Cytology and Genetics FWNR-2022-0020, the Russian Science Foundation (No. 22-15-20037) and Government of the Novosibirsk region grant, Versus Arthritis grant number 22467, NIH/NIAMS P30AR072572. This research has been conducted using the UK Biobank Resource under Applications #18219 and #59345.Conflict of Interest: None declared
UR - https://www.nature.com/articles/s41431-024-01733-5
M3 - Conference article
VL - 32
SP - 1177
JO - European journal of human genetics
JF - European journal of human genetics
SN - 1018-4813
IS - S2
M1 - EP17.011
T2 - 57th European Society of Human Genetics Conference
Y2 - 1 June 2024 through 4 June 2024
ER -
ID: 67765782