Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.
Elia Gil-VareaElena UrcelayCarles Vilariño-GüellCarme CostaLuciana MidagliaFuencisla MatesanzAlfredo Rodríguez-AntigüedadJorge OksenbergLaura Espino-PaisanA Dessa SadovnickAlbert SaizLuisa M VillarJuan Antonio García-MerinoLluís Ramió-TorrentàJuan Carlos TriviñoEster QuintanaRené RoblesAntonio Sánchez-LópezRafael ArroyoJose C Alvarez-CermeñoAngela Vidal-JordanaSunny MalhotraNicolas FissoloXavier MontalbanManuel Comabella LopezPublished in: Journal of neuroinflammation (2018)
Genetic variants located in CPXM2, IGSF9B, and NLRP9 have the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses. Altogether, the reported results from this study support the influence of genetic factors in MS disease course and may help to better understand the complex molecular mechanisms underlying disease pathogenesis.