WFRF:(Sveinsson OA)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03052naa a2200601 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:149160663 | |
| 003 | SwePub | |
| 008 | 240701s2022 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1491606632 URI |
| 024 | 7 | a https://doi.org/10.1038/s41467-022-29133-72 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Skuladottir, AT4 aut |
| 245 | 1 0 | a A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome |
| 264 | c 2022-03-24 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2022 |
| 520 | a 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. | |
| 700 | 1 | a Bjornsdottir, G4 aut |
| 700 | 1 | a Ferkingstad, E4 aut |
| 700 | 1 | a Einarsson, G4 aut |
| 700 | 1 | a Stefansdottir, L4 aut |
| 700 | 1 | a Nawaz, MS4 aut |
| 700 | 1 | a Oddsson, A4 aut |
| 700 | 1 | a Olafsdottir, TA4 aut |
| 700 | 1 | a Saevarsdottir, Su Karolinska Institutet4 aut |
| 700 | 1 | a Walters, GB4 aut |
| 700 | 1 | a Magnusson, SH4 aut |
| 700 | 1 | a Bjornsdottir, A4 aut |
| 700 | 1 | a Sveinsson, OA4 aut |
| 700 | 1 | a Vikingsson, A4 aut |
| 700 | 1 | a Hansen, TF4 aut |
| 700 | 1 | a Jacobsen, RL4 aut |
| 700 | 1 | a Erikstrup, C4 aut |
| 700 | 1 | a Schwinn, M4 aut |
| 700 | 1 | a Brunak, S4 aut |
| 700 | 1 | a Banasik, K4 aut |
| 700 | 1 | a Ostrowski, SR4 aut |
| 700 | 1 | a Troelsen, A4 aut |
| 700 | 1 | a Henkel, C4 aut |
| 700 | 1 | a Pedersen, OB4 aut |
| 700 | 1 | a Jonsdottir, I4 aut |
| 700 | 1 | a Gudbjartsson, DF4 aut |
| 700 | 1 | a Sulem, P4 aut |
| 700 | 1 | a Thorgeirsson, TE4 aut |
| 700 | 1 | a Stefansson, H4 aut |
| 700 | 1 | a Stefansson, K4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Nature communicationsd : Springer Science and Business Media LLCg 13:1, s. 1598-q 13:1<1598-x 2041-1723 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:149160663 |
| 856 | 4 8 | u https://doi.org/10.1038/s41467-022-29133-7 |
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- Skuladottir, AT
- Bjornsdottir, G
- Ferkingstad, E
- Einarsson, G
- Stefansdottir, L
- Nawaz, MS
- visa fler...
- 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
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- Artiklar i publikationen
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- Karolinska Institutet
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