Article
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Brain : a journal of neurology - 1 Apr 2019
Mishra Aniket, Chauhan Ganesh, Violleau Marie-Helene, Vojinovic Dina, Jian Xueqiu, Bis Joshua C, Li Shuo, Saba Yasaman, Grenier-Boley Benjamin, Yang Qiong, Bartz Traci M, Hofer Edith, Soumaré Aïcha, Peng Fen, Duperron Marie-Gabrielle, Foglio Mario, Mosley Thomas H, Schmidt Reinhold, Psaty Bruce M, Launer Lenore J, Boerwinkle Eric, Zhu Yicheng, Mazoyer Bernard, Lathrop Mark, Bellenguez Celine, Van Duijn Cornelia M, Ikram M Arfan, Schmidt Helena, Longstreth W T, Fornage Myriam, Seshadri Sudha, Joutel Anne, Tzourio Christophe, Debette Stephanie
Abstract excerpt
We report a composite extreme phenotype design using distribution of white matter hyperintensities and brain infarcts in a population-based cohort of older persons for gene-mapping of cerebral small vessel disease. We demonstrate its application in the 3C-Dijon whole exome sequencing (WES) study (n = 1924, nWESextremes = 512), with both single variant and gene-based association tests. We used other...
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