Article
CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.
Nature communications - 20 Sept 2024
Nho Kwangsik, Risacher Shannon L, Apostolova Liana G, Bice Paula J, Brosch Jared R, Deardorff Rachael, Faber Kelley, Farlow Martin R, Foroud Tatiana, Gao Sujuan, Rosewood Thea, Kim Jun Pyo, Nudelman Kelly, Yu Meichen, Aisen Paul, Sperling Reisa, Hooli Basavaraj, Shcherbinin Sergey, Svaldi Diana, Jack Clifford R, Jagust William J, Landau Susan, Vasanthakumar Aparna, Waring Jeffrey F, Doré Vincent, Laws Simon M, Masters Colin L, Porter Tenielle, Rowe Christopher C, Villemagne Victor L, Dumitrescu Logan, Hohman Timothy J, Libby Julia B, Mormino Elizabeth, Buckley Rachel F, Johnson Keith, Yang Hyun-Sik, Petersen Ronald C, Ramanan Vijay K, Ertekin-Taner Nilüfer, Vemuri Prashanthi, Cohen Ann D, Fan Kang-Hsien, Kamboh M Ilyas, Lopez Oscar L, Bennett David A, Ali Muhammad, Benzinger Tammie, Cruchaga Carlos, Hobbs Diana, De Jager Philip L, Fujita Masashi, Jadhav Vaishnavi, Lamb Bruce T, Tsai Andy P, Castanho Isabel, Mill Jonathan, Weiner Michael W, Saykin Andrew J
Abstract excerpt
Determining the genetic architecture of Alzheimer's disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron emission tomography in 3046 participants from 12 independent studies. The CYP1B1-RMDN2 locus is associated with tau deposition. The most significant signal is at rs2113389,...
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