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

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.; Küçükali, F.; Peters, O.; Schneider, A.; Dichgans, M.; Rujescu, D.; Scherbaum, N.; Deckert, J.; Riedel-Heller, S.; Hausner, L.; Molina-Porcel, L.; Düzel, E.; Grimmer, T.; Wiltfang, J.; Heilmann-Heimbach, S.; Moebus, S.; Tegos, T.; Scarmeas, N.; Dols-Icardo, O.; Moreno, F.; Pérez-Tur, J.; Bullido, M.J.; Pastor, P.; Sánchez-Valle, R.; Álvarez, V.; Boada, M.; García-González, P.; Puerta, R.; Mir, P.; Real, L.M.; Piñol-Ripoll, G.; García-Alberca, J.M.; Royo, J.L.; Rodriguez-Rodriguez, E.; Soininen, H.; de Mendonça, A.; Mehrabian, S.; Traykov, L.; Hort, J.; Vyhnalek, M.; Thomassen, J.Q.; Pijnenburg, YAL; 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.; Grünblatt, 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.; Bossù, P.; Masullo, C.; Rossi, G.; Jessen, F.; Fernandez, V.; Kehoe, P.G.; Frikke-Schmidt, R.; Tsolaki, M.; Sánchez-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.

doi:10.1038/s41380-024-02838-5

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

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Serval ID

serval:BIB_95DD4D5D9C2A

Type

Article: article from journal or magazin.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

Molecular psychiatry

Author(s)

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., Küçükali F., Peters O., Schneider A., Dichgans M., Rujescu D., Scherbaum N., Deckert J., Riedel-Heller S., Hausner L., Molina-Porcel L., Düzel E., Grimmer T., Wiltfang J., Heilmann-Heimbach S., Moebus S., Tegos T., Scarmeas N., Dols-Icardo O., Moreno F., Pérez-Tur J., Bullido M.J., Pastor P., Sánchez-Valle R., Álvarez V., Boada M., García-González P., Puerta R., Mir P., Real L.M., Piñol-Ripoll G., García-Alberca J.M., Royo J.L., Rodriguez-Rodriguez E., Soininen H., de Mendonça A., Mehrabian S., Traykov L., Hort J., Vyhnalek M., Thomassen J.Q., Pijnenburg YAL, 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., Grünblatt 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., Bossù P., Masullo C., Rossi G., Jessen F., Fernandez V., Kehoe P.G., Frikke-Schmidt R., Tsolaki M., Sánchez-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.

Working group(s)

EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE

ISSN

1476-5578 (Electronic)

ISSN-L

1359-4184

Publication state

In Press

Peer-reviewed

Oui

Editor

Eadb G. R. A. C. E. Degesco Eadi Gerad DemGene FinnGen Adgc Charge

Language

english

Notes

Publication types: Journal Article
Publication Status: aheadofprint

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 × 10 - 8 ) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 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.

OAI-PMH

oai:serval.unil.ch:BIB_95DD4D5D9C2A

DOI

10.1038/s41380-024-02838-5

Pubmed

39633006

Open Access

Yes

Create date

09/12/2024 16:47

Last modification date

10/12/2024 7:12

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

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