Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
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DOI：
10.1016/j.neurobiolaging.2020.04.011
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发表时间：
2020-08
影响因子：
4.2
通讯作者：
International League Against Epilepsy Consortium on Complex Epilepsies
中科院分区：
文献类型：
--
作者：
Schijven D;Stevelink R;McCormack M;van Rheenen W;Luykx JJ;Koeleman BPC;Veldink JH;Project MinE ALS GWAS Consortium;International League Against Epilepsy Consortium on Complex Epilepsies
Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins.
影响因子：
30.8
作者：
van Rheenen W;Shatunov A;Dekker AM;McLaughlin RL;Diekstra FP;Pulit SL;van der Spek RA;Võsa U;de Jong S;Robinson MR;Yang J;Fogh I;van Doormaal PT;Tazelaar GH;Koppers M;Blokhuis AM;Sproviero W;Jones AR;Kenna KP;van Eijk KR;Harschnitz O;Schellevis RD;Brands WJ;Medic J;Menelaou A;Vajda A;Ticozzi N;Lin K;Rogelj B;Vrabec K;Ravnik-Glavač M;Koritnik B;Zidar J;Leonardis L;Grošelj LD;Millecamps S;Salachas F;Meininger V;de Carvalho M;Pinto S;Mora JS;Rojas-García R;Polak M;Chandran S;Colville S;Swingler R;Morrison KE;Shaw PJ;Hardy J;Orrell RW;Pittman A;Sidle K;Fratta P;Malaspina A;Topp S;Petri S;Abdulla S;Drepper C;Sendtner M;Meyer T;Ophoff RA;Staats KA;Wiedau-Pazos M;Lomen-Hoerth C;Van Deerlin VM;Trojanowski JQ;Elman L;McCluskey L;Basak AN;Tunca C;Hamzeiy H;Parman Y;Meitinger T;Lichtner P;Radivojkov-Blagojevic M;Andres CR;Maurel C;Bensimon G;Landwehrmeyer B;Brice A;Payan CA;Saker-Delye S;Dürr A;Wood NW;Tittmann L;Lieb W;Franke A;Rietschel M;Cichon S;Nöthen MM;Amouyel P;Tzourio C;Dartigues JF;Uitterlinden AG;Rivadeneira F;Estrada K;Hofman A;Curtis C;Blauw HM;van der Kooi AJ;de Visser M;Goris A;Weber M;Shaw CE;Smith BN;Pansarasa O;Cereda C;Del Bo R;Comi GP;D'Alfonso S;Bertolin C;Sorarù G;Mazzini L;Pensato V;Gellera C;Tiloca C;Ratti A;Calvo A;Moglia C;Brunetti M;Arcuti S;Capozzo R;Zecca C;Lunetta C;Penco S;Riva N;Padovani A;Filosto M;Muller B;Stuit RJ;PARALS Registry;SLALOM Group;SLAP Registry;FALS Sequencing Consortium;SLAGEN Consortium;NNIPPS Study Group;Blair I;Zhang K;McCann EP;Fifita JA;Nicholson GA;Rowe DB;Pamphlett R;Kiernan MC;Grosskreutz J;Witte OW;Ringer T;Prell T;Stubendorff B;Kurth I;Hübner CA;Leigh PN;Casale F;Chio A;Beghi E;Pupillo E;Tortelli R;Logroscino G;Powell J;Ludolph AC;Weishaupt JH;Robberecht W;Van Damme P;Franke L;Pers TH;Brown RH;Glass JD;Landers JE;Hardiman O;Andersen PM;Corcia P;Vourc'h P;Silani V;Wray NR;Visscher PM;de Bakker PI;van Es MA;Pasterkamp RJ;Lewis CM;Breen G;Al-Chalabi A;van den Berg LH;Veldink JH
通讯作者：
Veldink JH
影响因子：
16.6
作者：
Abou-Khalil, Bassel;Auce, Pauls;Zimprich, Fritz
通讯作者：
Zimprich, Fritz