| Title | {Genetic associations with dementia-related proteinopathy: Application of item response theory |
| Publication Type | Journal Article |
| Year of Publication | 2024 |
| Authors | Katsumata, Y, Fardo, DW, Shade, LMP, Wu, X, Karanth, SD, Hohman, TJ, Schneider, JA, Bennett, DA, Farfel, JM, Gauthreaux, K, Mock, C, Kukull, WA, Abner, EL, Nelson, PT, Carrillo, M, Reiman, EM, Chen, K, Masterman, D, Green, RC, Ho, C, Fleisher, A, Saykin, AJ, Nho, K, Apostolova, LG, Risacher, SL, Jackson, J, Forghanian-Arani, A, Borowski, B, Ward, C, Schwarz, C, Jack, CR, Jones, D, Gunter, J, Kantarci, K, Senjem, M, Vemuri, P, Reid, R, Petersen, R, Hsiao, JK, Potter, W, Masliah, E, Hsiao, JK, Ryan, L, Bernard, M, Silverberg, N, Kormos, A, Conti, C, Veitch, D, Flenniken, D, Sacrey, DT, Choe, M, Ashford, M, Chen, SR, Faber, K, Nudelman, K, Wilme, K, Foroud, TM, Trojanowki, JQ, Shaw, LM, Korecka, M, Figurski, M, Khachaturian, Z, Barnes, L, Malone, I, Fox, NC, Beckett, L, Weiner, MW, Jagust, W, Landau, S, Jagust, W, Knaack, A, DeCarli, C, Harvey, D, Fletcher, E, Beckett, L, lez, H, Jin, C, Tosun-Turgut, D, Neuhaus, J, Fockler, J, Nosheny, R, Koeppe, RA, Trojanowki, JQ, Shaw, LM, Yushkevich, PA, Das, S, Mathis, C, Toga, AW, Zimmerman, C, Gessert, D, Shcrer, E, Miller, G, Coker, G, Jimenez, G, Salazar, J, Pizzola, J, Crawford, K, Hergesheimer, L, Donohue, M, Rafii, M, Adegoke, O, Aisen, P, Mahboubi, P, Raman, R, Walter, S, Neu, S, Moore, S, Smith, S, Clanton, T, Cabrera, Y, Donohue, M, Jahanshad, N, Thompson, P, Thomopoulos, SI, Nir, TM, Crawford, K, Montine, T, Okonkwo, O, Shen, L, Perrin, R, Franklin, E, Householder, E, Bernhardt, H, Morris, JC, Taylor-Reinwald, L, Cairns, NJ, Perrin, RJ, Biber, S, Welsch, J, Rosentreter, H, Fair, B, Young, A, Hale, B, Hockens, V, Buckley, F, Ida, A, Xia, J, Almeda, E, Stephens, KA, Shibata, DK, Chan, KCG, Longstreth, W, Che, YC, Culhane, J, Miller, Z, Yasuda, S, Mooney, S, Hubbard, J, Keller, B, Stark, Z, Wu, J, Mcleod, L, Hewanadungodage, C, Smith, B |
| Journal | Alzheimers Dement |
| Date Published | Mar |
| Abstract | Although dementia-related proteinopathy has a strong negative impact on public health, and is highly heritable, understanding of the related genetic architecture is incomplete.\ -synuclein, and TDP-43.\ -synuclein/Lewy bodies. Novel suggestive proteinopathy-linked alleles were also discovered, including several (SDHAF1, TMEM68, and ARHGEF28) with colocalization analyses and/or high degrees of biologic credibility.\ A novel methodology using GPCM enabled insights into gene candidates for driving misfolded proteinopathies.\ Latent factor scores for proteinopathies were estimated using a generalized partial credit model. The three latent continuous scores corresponded well with proteinopathy severity. Novel genes associated with proteinopathies were identified. Several genes had high degrees of biologic credibility for dementia risk factors. |
