The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.
The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.
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DOI：
10.1007/s11910-018-0874-y
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发表时间：
2018-08-10
影响因子：
5.6
通讯作者：
Bras J
中科院分区：
文献类型：
--
作者：
Orme T;Guerreiro R;Bras J
路易体痴呆 (DLB) 是一种神经退行性疾病，在临床和病理上与帕金森病 (PD) 和阿尔茨海默病 (AD) 相似。目前对 DLB 遗传学的了解还不够，并且受到样本量和诊断难度的限制。第一个 DLB 全基因组关联研究 (GWAS) 于 2017 年进行；许多疾病已经进入后 GWAS 时代。 DLB 与 AD 共享 APOE E4 等位基因的风险位点，并与 PD 共享风险位点（GBA 和 SNCA 的变异）。有趣的是，GWAS 表明 DLB 也可能具有与 AD 和 PD 不同的遗传风险因素。尽管起步缓慢，但最近的研究重振了 DLB 遗传学领域，这些结果使我们能够开始对这种疾病的遗传结构有更全面的了解。
Dementia with Lewy bodies (DLB) is a neurodegenerative disease that can be clinically and pathologically similar to Parkinson’s disease (PD) and Alzheimer’s disease (AD). Current understanding of DLB genetics is insufficient and has been limited by sample size and difficulty in diagnosis. The first genome-wide association study (GWAS) in DLB was performed in 2017; a time at which the post-GWAS era has been reached in many diseases. DLB shares risk loci with AD, in the APOE E4 allele, and with PD, in variation at GBA and SNCA. Interestingly, the GWAS suggested that DLB may also have genetic risk factors that are distinct from those in AD and PD. Although off to a slow start, recent studies have reinvigorated the field of DLB genetics and these results enable us to start to have a more complete understanding of the genetic architecture of this disease.
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影响因子：
3.5
作者：
Bras J;Guerreiro R;Darwent L;Parkkinen L;Ansorge O;Escott-Price V;Hernandez DG;Nalls MA;Clark LN;Honig LS;Marder K;Van Der Flier WM;Lemstra A;Scheltens P;Rogaeva E;St George-Hyslop P;Londos E;Zetterberg H;Ortega-Cubero S;Pastor P;Ferman TJ;Graff-Radford NR;Ross OA;Barber I;Braae A;Brown K;Morgan K;Maetzler W;Berg D;Troakes C;Al-Sarraj S;Lashley T;Compta Y;Revesz T;Lees A;Cairns N;Halliday GM;Mann D;Pickering-Brown S;Dickson DW;Singleton A;Hardy J
通讯作者：
Hardy J
影响因子：
4.2
作者：
Blauwendraat C;Kia DA;Pihlstrøm L;Gan-Or Z;Lesage S;Gibbs JR;Ding J;Alcalay RN;Hassin-Baer S;Pittman AM;Brooks J;Edsall C;Chung SJ;Goldwurm S;Toft M;Schulte C;International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium;Hernandez D;Singleton AB;Nalls MA;Brice A;Scholz SW;Wood NW
通讯作者：
Wood NW
影响因子：
2.5
作者：
Berge-Seidl, Victoria;Pihlstrom, Lasse;Toft, Mathias
通讯作者：
Toft, Mathias
影响因子：
14.5
作者：
Colom-Cadena, Marti;Pegueroles, Jordi;Lleo, Alberto
通讯作者：
Lleo, Alberto
影响因子：
168.9
作者：
Chartier-Harlin, MC;Kachergus, J;Destée, A
通讯作者：
Destée, A