Article
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.
Nature communications - 24 Mar 2022
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
Abstract excerpt
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)....
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