Additional file 2 of Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy
Year: 2020
Type: dataset
Abstract: Additional file 2: Table S1a. Power at 5% significance level by odds ratio for 3351 controls and specified number of cases, for ABI3 with MAF of 0.8 % in controls. Table S1b Power at 5% significance level by odds ratio for 3351 controls and specified number of cases, for PLCG2 with MAF of 1.09 % in controls. Table S2. (A) Braak stage and (B) Thal phase distribution in the PSP and LBD cohorts based on (1) ABI3_rs616338_C_T and (2) PLCG2_rs72824905_C_G genotypes. The total number of subjects and percentage (N (%)) are shown for those subjects with Braak and Thal measures. For each series, the number of carriers with the minor allele, the major allele, and all subjects with a genotype for the given SNP are shown, respectively. The percentage is the N for each neuropathologic category for a given genotype divided by the total N of each series. Braak stage and Thal phase categories are defined as per prior published criteria. Abbreviations: PSP progressive supranuclear palsy, LBD dementia with Lewy bodies. Genotypes for ABI3(rs616338)-(TT/CT/CC) and PLCG2(rs72824905)-(GG/CG/CC). Given their rarity, there were no individuals with ABI3(rs616338)_TT or PLCG2(rs72824905)_GG genotypes.
Source: Figshare
Authors: Strickland, Samantha L., Morel, Hélène, Prusinski, Christian, Allen, Mariet, Tulsi A. Patel, Carrasquillo, Minerva M., Conway, Olivia J., Lincoln, Sarah J., Reddy, Joseph S., Nguyen, Thuy, Malphrus, Kimberly G., Soto, Alexandra I., Walton, Ronald L., Crook, Julia E., Murray, Melissa E., Boeve, Bradley F., Petersen, Ronald C., Lucas, John A., Tanis J. Ferman, Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A., Graff-Radford, Neill R., Dickson, Dennis W., Ertekin-Taner, Nilüfer
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4394259580