Le profilage génomique ciblé identifie une variante spécifique aux Thailandais dans le gène SCN5A qui contribue au syndrome de Brugada
DOI :
https://doi.org/10.18192/osurj.v4i1.7310Résumé
Le syndrome de Brugada, est un trouble qui peut contribuer à un arrêt cardiaque soudain, est une cause majeure de décès chez les jeunes hommes thailandais. Cependant, les facteurs génétiques à l’origine de sa forte prévalence en Asie du Sud- Est ne sont pas suffisamment étudiés, due à une faible représentation dans les études génomiques. Une étude qui a été récemment menée par Walsh et. al a trouvé une variante non codante spécifique à la population thaïlandaise dans la région du gène SCN5A et a montré son rôle causal dans le syndrome de Brugada. Cette étude met en évidence l’importance de la recherche génomique ciblée selon les populations et nous aide à mieux comprendre le rôle des variantes régulatrices non codantes dans les pathologies cardiaques
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