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Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain. / Zorkoltseva, Irina V.; Елгаева, Елизавета Евгеньевна; Kirichenko, Anatoly и др.

в: European journal of human genetics, Том 32, № S1, EP25.005, 01.2024, стр. 345.

Результаты исследований: Научные публикации в периодических изданияхстатья по материалам конференцииРецензирование

Harvard

Zorkoltseva, IV, Елгаева, ЕЕ, Kirichenko, A, Belonogova, NM, Svishcheva, GR, Цепилов, ЯА & Axenovich, TI 2024, 'Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain', European journal of human genetics, Том. 32, № S1, EP25.005, стр. 345.

APA

Zorkoltseva, I. V., Елгаева, Е. Е., Kirichenko, A., Belonogova, N. M., Svishcheva, G. R., Цепилов, Я. А., & Axenovich, T. I. (2024). Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain. European journal of human genetics, 32(S1), 345. [EP25.005].

Vancouver

Zorkoltseva IV, Елгаева ЕЕ, Kirichenko A, Belonogova NM, Svishcheva GR, Цепилов ЯА и др. Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain. European journal of human genetics. 2024 янв.;32(S1):345. EP25.005.

Author

Zorkoltseva, Irina V. ; Елгаева, Елизавета Евгеньевна ; Kirichenko, Anatoly и др. / Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain. в: European journal of human genetics. 2024 ; Том 32, № S1. стр. 345.

BibTeX

@article{8ca95cd6ed8449e9937f71a772e325a2,
title = "Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain",
abstract = "Background: Back pain is the leading cause of disability-related years lived worldwide. Its heritability has been estimated at 40–60%, with half attributed to common genetic variants. Rare and ultra-rare variants are expected to provide additional explanations for missing heritability. In this study, we estimated for the first time the impact of rare and ultra-rare variants on chronic back pain (CBP).Methods: CBP was defined as back pain lasting more than 3 months. Using UK Biobank exome sequencing data (N = 179,000), we performed a gene-based association study including only variants with MAF ≤ 0.01. Ultra-rare variants with MAC ≤ 10 were collapsed and considered as a single variant, which was then used together with all other variants for gene-based association analysis. Four sets of within-gene variants with specific protein-coding properties were used in the analysis.Results: We detected a significant association between CBP and SLC13A1 (p-value = 2.50 × 10-6). The signal was obtained for LoF+missense variants. A rare LoF variant of SLC13A1 has recently been identified as being responsible for another back pain trait, intervertebral disc disorder [Bjornsdottir et al., 2022].Conclusion: We replicated the association between back pain and SLC13A1 and showed that the gene effect on back pain can be explained by both LoF and rare missense variants.Grant References: The study was conducted using the UK Biobank resource. The work was supported by the budget project of the Institute of Cytology and Genetics FWNR-2022-0020, Russian Science Foundation (RSF) No.22-15-20037 and Government of the Novosibirsk region, RSF No.23-25-00209.",
author = "Zorkoltseva, {Irina V.} and Елгаева, {Елизавета Евгеньевна} and Anatoly Kirichenko and Belonogova, {Nadezhda M.} and Svishcheva, {Gulnara R.} and Цепилов, {Яков Александрович} and Axenovich, {Tatiana I.}",
note = "The study was conducted using the UK Biobank resource. The work was supported by the budget project of the Institute of Cytology and Genetics FWNR-2022-0020, Russian Science Foundation (RSF) No.22-15-20037 and Government of the Novosibirsk region, RSF No.23-25-00209.; 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG) ; Conference date: 10-06-2023 Through 13-06-2023",
year = "2024",
month = jan,
language = "English",
volume = "32",
pages = "345",
journal = "European journal of human genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "S1",

}

RIS

TY - JOUR

T1 - Exome sequencing association analysis replicated the role of rare variants of SLC13A1 in back pain

AU - Zorkoltseva, Irina V.

AU - Елгаева, Елизавета Евгеньевна

AU - Kirichenko, Anatoly

AU - Belonogova, Nadezhda M.

AU - Svishcheva, Gulnara R.

AU - Цепилов, Яков Александрович

AU - Axenovich, Tatiana I.

N1 - Conference code: 56

PY - 2024/1

Y1 - 2024/1

N2 - Background: Back pain is the leading cause of disability-related years lived worldwide. Its heritability has been estimated at 40–60%, with half attributed to common genetic variants. Rare and ultra-rare variants are expected to provide additional explanations for missing heritability. In this study, we estimated for the first time the impact of rare and ultra-rare variants on chronic back pain (CBP).Methods: CBP was defined as back pain lasting more than 3 months. Using UK Biobank exome sequencing data (N = 179,000), we performed a gene-based association study including only variants with MAF ≤ 0.01. Ultra-rare variants with MAC ≤ 10 were collapsed and considered as a single variant, which was then used together with all other variants for gene-based association analysis. Four sets of within-gene variants with specific protein-coding properties were used in the analysis.Results: We detected a significant association between CBP and SLC13A1 (p-value = 2.50 × 10-6). The signal was obtained for LoF+missense variants. A rare LoF variant of SLC13A1 has recently been identified as being responsible for another back pain trait, intervertebral disc disorder [Bjornsdottir et al., 2022].Conclusion: We replicated the association between back pain and SLC13A1 and showed that the gene effect on back pain can be explained by both LoF and rare missense variants.Grant References: The study was conducted using the UK Biobank resource. The work was supported by the budget project of the Institute of Cytology and Genetics FWNR-2022-0020, Russian Science Foundation (RSF) No.22-15-20037 and Government of the Novosibirsk region, RSF No.23-25-00209.

AB - Background: Back pain is the leading cause of disability-related years lived worldwide. Its heritability has been estimated at 40–60%, with half attributed to common genetic variants. Rare and ultra-rare variants are expected to provide additional explanations for missing heritability. In this study, we estimated for the first time the impact of rare and ultra-rare variants on chronic back pain (CBP).Methods: CBP was defined as back pain lasting more than 3 months. Using UK Biobank exome sequencing data (N = 179,000), we performed a gene-based association study including only variants with MAF ≤ 0.01. Ultra-rare variants with MAC ≤ 10 were collapsed and considered as a single variant, which was then used together with all other variants for gene-based association analysis. Four sets of within-gene variants with specific protein-coding properties were used in the analysis.Results: We detected a significant association between CBP and SLC13A1 (p-value = 2.50 × 10-6). The signal was obtained for LoF+missense variants. A rare LoF variant of SLC13A1 has recently been identified as being responsible for another back pain trait, intervertebral disc disorder [Bjornsdottir et al., 2022].Conclusion: We replicated the association between back pain and SLC13A1 and showed that the gene effect on back pain can be explained by both LoF and rare missense variants.Grant References: The study was conducted using the UK Biobank resource. The work was supported by the budget project of the Institute of Cytology and Genetics FWNR-2022-0020, Russian Science Foundation (RSF) No.22-15-20037 and Government of the Novosibirsk region, RSF No.23-25-00209.

UR - https://www.nature.com/articles/s41431-023-01481-y

M3 - Conference article

VL - 32

SP - 345

JO - European journal of human genetics

JF - European journal of human genetics

SN - 1018-4813

IS - S1

M1 - EP25.005

T2 - 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG)

Y2 - 10 June 2023 through 13 June 2023

ER -

ID: 67752053