糖心传媒

Skip to main content
 
Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
糖心传媒

X-chromosome-wide association study for Alzheimer's disease.

糖心传媒

X-chromosome-wide association study for Alzheimer's disease. Molecular psychiatry Le Borgne, J., Gomez, L., Heikkinen, S., Amin, N., Ahmad, S., Choi, S. H., Bis, J., Grenier-Boley, B., Rodriguez, O. G., Kleineidam, L., Young, J., Tripathi, K. P., Wang, L., Varma, A., Campos-Martin, R., van der Lee, S., Damotte, V., de Rojas, I., Palmal, S., Lipton, R., Reiman, E., McKee, A., De Jager, P., Bush, W., Small, S., Levey, A., Saykin, A., Foroud, T., Albert, M., Hyman, B., Petersen, R., Younkin, S., Sano, M., Wisniewski, T., Vassar, R., Schneider, J., Henderson, V., Roberson, E., DeCarli, C., LaFerla, F., Brewer, J., Swerdlow, R., Van Eldik, L., Hamilton-Nelson, K., Paulson, H., Naj, A., Lopez, O., Chui, H., Crane, P., Grabowski, T., Kukull, W., Asthana, S., Craft, S., Strittmatter, S., Cruchaga, C., Leverenz, J., Goate, A., Kamboh, M. I., George-Hyslop, P. S., Valladares, O., Kuzma, A., Cantwell, L., Riemenschneider, M., Morris, J., Slifer, S., Dalmasso, C., Castillo, A., K眉莽眉kali, F., Peters, O., Schneider, A., Dichgans, M., Rujescu, D., Scherbaum, N., Deckert, J., Riedel-Heller, S., Hausner, L., Molina-Porcel, L., D眉zel, E., Grimmer, T., Wiltfang, J., Heilmann-Heimbach, S., Moebus, S., Tegos, T., Scarmeas, N., Dols-Icardo, O., Moreno, F., P茅rez-Tur, J., Bullido, M. J., Pastor, P., S谩nchez-Valle, R., 脕lvarez, V., Boada, M., Garc铆a-Gonz谩lez, P., Puerta, R., Mir, P., Real, L. M., Pi帽ol-Ripoll, G., Garc铆a-Alberca, J. M., Royo, J. L., Rodriguez-Rodriguez, E., Soininen, H., de Mendon莽a, A., Mehrabian, S., Traykov, L., Hort, J., Vyhnalek, M., Thomassen, J. Q., Pijnenburg, Y. A., Holstege, H., van Swieten, J., Ramakers, I., Verhey, F., Scheltens, P., Graff, C., Papenberg, G., Giedraitis, V., Boland, A., Deleuze, J. F., Nicolas, G., Dufouil, C., Pasquier, F., Hanon, O., Debette, S., Gr眉nblatt, E., Popp, J., Ghidoni, R., Galimberti, D., Arosio, B., Mecocci, P., Solfrizzi, V., Parnetti, L., Squassina, A., Tremolizzo, L., Borroni, B., Nacmias, B., Spallazzi, M., Seripa, D., Rainero, I., Daniele, A., Boss霉, P., Masullo, C., Rossi, G., Jessen, F., Fernandez, V., Kehoe, P. G., Frikke-Schmidt, R., Tsolaki, M., S谩nchez-Juan, P., Sleegers, K., Ingelsson, M., Haines, J., Farrer, L., Mayeux, R., Wang, L. S., Sims, R., DeStefano, A., Schellenberg, G. D., Seshadri, S., Amouyel, P., Williams, J., van der Flier, W., Ramirez, A., Pericak-Vance, M., Andreassen, O. A., Van Duijn, C., Hiltunen, M., Ruiz, A., Dupuis, J., Martin, E., Lambert, J. C., Kunkle, B., Bellenguez, C. 2024

Abstract

Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P?=?5?脳?10-8) but identified seven X-chromosome-wide significant loci (P?=?1.6?脳?10-6). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.

View details for

View details for

View details for