A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

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A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome. / Skuladottir, Astros Th; Bjornsdottir, Gyda; Ferkingstad, Egil; Einarsson, Gudmundur; Stefansdottir, Lilja; Nawaz, Muhammad Sulaman; Oddsson, Asmundur; Olafsdottir, Thorunn A.; Saevarsdottir, Saedis; Walters, G. Bragi; Magnusson, Sigurdur H.; Bjornsdottir, Anna; Sveinsson, Olafur A.; Vikingsson, Arnor; Hansen, Thomas Folkmann; Jacobsen, Rikke Louise; Erikstrup, Christian; Schwinn, Michael; Brunak, Søren; Banasik, Karina; Ostrowski, Sisse Rye; Troelsen, Anders; Henkel, Cecilie; Pedersen, Ole Birger; Jonsdottir, Ingileif; Gudbjartsson, Daniel F.; Sulem, Patrick; Thorgeirsson, Thorgeir E.; Stefansson, Hreinn; Stefansson, Kari; DBDS Genetic Consortium.

In: Nature Communications, Vol. 13, No. 1, 1598, 2022.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Skuladottir, AT, Bjornsdottir, G, Ferkingstad, E, Einarsson, G, Stefansdottir, L, Nawaz, MS, Oddsson, A, Olafsdottir, TA, Saevarsdottir, S, Walters, GB, Magnusson, SH, Bjornsdottir, A, Sveinsson, OA, Vikingsson, A, Hansen, TF, Jacobsen, RL, Erikstrup, C, Schwinn, M, Brunak, S, Banasik, K, Ostrowski, SR, Troelsen, A, Henkel, C, Pedersen, OB, Jonsdottir, I, Gudbjartsson, DF, Sulem, P, Thorgeirsson, TE, Stefansson, H, Stefansson, K & DBDS Genetic Consortium 2022, 'A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome', Nature Communications, vol. 13, no. 1, 1598. https://doi.org/10.1038/s41467-022-29133-7

APA

Skuladottir, A. T., Bjornsdottir, G., Ferkingstad, E., Einarsson, G., Stefansdottir, L., Nawaz, M. S., Oddsson, A., Olafsdottir, T. A., Saevarsdottir, S., Walters, G. B., Magnusson, S. H., Bjornsdottir, A., Sveinsson, O. A., Vikingsson, A., Hansen, T. F., Jacobsen, R. L., Erikstrup, C., Schwinn, M., Brunak, S., ... DBDS Genetic Consortium (2022). A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome. Nature Communications, 13(1), [1598]. https://doi.org/10.1038/s41467-022-29133-7

Vancouver

Skuladottir AT, Bjornsdottir G, Ferkingstad E, Einarsson G, Stefansdottir L, Nawaz MS et al. A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome. Nature Communications. 2022;13(1). 1598. https://doi.org/10.1038/s41467-022-29133-7

Author

Skuladottir, Astros Th ; Bjornsdottir, Gyda ; Ferkingstad, Egil ; Einarsson, Gudmundur ; Stefansdottir, Lilja ; Nawaz, Muhammad Sulaman ; Oddsson, Asmundur ; Olafsdottir, Thorunn A. ; Saevarsdottir, Saedis ; Walters, G. Bragi ; Magnusson, Sigurdur H. ; Bjornsdottir, Anna ; Sveinsson, Olafur A. ; Vikingsson, Arnor ; Hansen, Thomas Folkmann ; Jacobsen, Rikke Louise ; Erikstrup, Christian ; Schwinn, Michael ; Brunak, Søren ; Banasik, Karina ; Ostrowski, Sisse Rye ; Troelsen, Anders ; Henkel, Cecilie ; Pedersen, Ole Birger ; Jonsdottir, Ingileif ; Gudbjartsson, Daniel F. ; Sulem, Patrick ; Thorgeirsson, Thorgeir E. ; Stefansson, Hreinn ; Stefansson, Kari ; DBDS Genetic Consortium. / A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome. In: Nature Communications. 2022 ; Vol. 13, No. 1.

Bibtex

@article{0ae7de7afddc468da25f4ecc42c60892,
title = "A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome",
abstract = "Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10-24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.",
author = "Skuladottir, {Astros Th} and Gyda Bjornsdottir and Egil Ferkingstad and Gudmundur Einarsson and Lilja Stefansdottir and Nawaz, {Muhammad Sulaman} and Asmundur Oddsson and Olafsdottir, {Thorunn A.} and Saedis Saevarsdottir and Walters, {G. Bragi} and Magnusson, {Sigurdur H.} and Anna Bjornsdottir and Sveinsson, {Olafur A.} and Arnor Vikingsson and Hansen, {Thomas Folkmann} and Jacobsen, {Rikke Louise} and Christian Erikstrup and Michael Schwinn and S{\o}ren Brunak and Karina Banasik and Ostrowski, {Sisse Rye} and Anders Troelsen and Cecilie Henkel and Pedersen, {Ole Birger} and Ingileif Jonsdottir and Gudbjartsson, {Daniel F.} and Patrick Sulem and Thorgeirsson, {Thorgeir E.} and Hreinn Stefansson and Kari Stefansson and {DBDS Genetic Consortium}",
note = "Publisher Copyright: {\textcopyright} 2022. The Author(s).",
year = "2022",
doi = "10.1038/s41467-022-29133-7",
language = "English",
volume = "13",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
number = "1",

}

RIS

TY - JOUR

T1 - A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

AU - Skuladottir, Astros Th

AU - Bjornsdottir, Gyda

AU - Ferkingstad, Egil

AU - Einarsson, Gudmundur

AU - Stefansdottir, Lilja

AU - Nawaz, Muhammad Sulaman

AU - Oddsson, Asmundur

AU - Olafsdottir, Thorunn A.

AU - Saevarsdottir, Saedis

AU - Walters, G. Bragi

AU - Magnusson, Sigurdur H.

AU - Bjornsdottir, Anna

AU - Sveinsson, Olafur A.

AU - Vikingsson, Arnor

AU - Hansen, Thomas Folkmann

AU - Jacobsen, Rikke Louise

AU - Erikstrup, Christian

AU - Schwinn, Michael

AU - Brunak, Søren

AU - Banasik, Karina

AU - Ostrowski, Sisse Rye

AU - Troelsen, Anders

AU - Henkel, Cecilie

AU - Pedersen, Ole Birger

AU - Jonsdottir, Ingileif

AU - Gudbjartsson, Daniel F.

AU - Sulem, Patrick

AU - Thorgeirsson, Thorgeir E.

AU - Stefansson, Hreinn

AU - Stefansson, Kari

AU - DBDS Genetic Consortium

N1 - Publisher Copyright: © 2022. The Author(s).

PY - 2022

Y1 - 2022

N2 - Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10-24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.

AB - Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10-24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.

U2 - 10.1038/s41467-022-29133-7

DO - 10.1038/s41467-022-29133-7

M3 - Journal article

C2 - 35332129

AN - SCOPUS:85127057473

VL - 13

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

IS - 1

M1 - 1598

ER -

ID: 302544882