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@ARTICLE{Holstege:165612,
      author       = {Holstege, Henne and Hulsman, Marc and Charbonnier, Camille
                      and Grenier-Boley, Benjamin and Quenez, Olivier and Grozeva,
                      Detelina and van Rooij, Jeroen G J and Sims, Rebecca and
                      Ahmad, Shahzad and Amin, Najaf and Norsworthy, Penny J and
                      Dols-Icardo, Oriol and Hummerich, Holger and Kawalia, Amit
                      and Amouyel, Philippe and Beecham, Gary W and Berr, Claudine
                      and Bis, Joshua C and Boland, Anne and Bossù, Paola and
                      Bouwman, Femke and Bras, Jose and Campion, Dominique and
                      Cochran, J Nicholas and Daniele, Antonio and Dartigues,
                      Jean-François and Debette, Stéphanie and Deleuze,
                      Jean-François and Denning, Nicola and DeStefano, Anita L
                      and Farrer, Lindsay A and Fernández, Maria Victoria and
                      Fox, Nick C and Galimberti, Daniela and Genin, Emmanuelle
                      and Gille, Johan J P and Le Guen, Yann and Guerreiro, Rita
                      and Haines, Jonathan L and Holmes, Clive and Ikram, M Arfan
                      and Ikram, M Kamran and Jansen, Iris E and Kraaij, Robert
                      and Lathrop, Marc and Lemstra, Afina W and Lleó, Alberto
                      and Luckcuck, Lauren and Mannens, Marcel M A M and Marshall,
                      Rachel and Martin, Eden R and Masullo, Carlo and Mayeux,
                      Richard and Mecocci, Patrizia and Meggy, Alun and Mol, Merel
                      O and Morgan, Kevin and Myers, Richard M and Nacmias,
                      Benedetta and Naj, Adam C and Napolioni, Valerio and
                      Pasquier, Florence and Pastor, Pau and Pericak-Vance,
                      Margaret A and Raybould, Rachel and Redon, Richard and
                      Reinders, Marcel J T and Richard, Anne-Claire and
                      Riedel-Heller, Steffi G and Rivadeneira, Fernando and
                      Rousseau, Stéphane and Ryan, Natalie S and Saad, Salha and
                      Sanchez-Juan, Pascual and Schellenberg, Gerard D and
                      Scheltens, Philip and Schott, Jonathan M and Seripa, Davide
                      and Seshadri, Sudha and Sie, Daoud and Sistermans, Erik A
                      and Sorbi, Sandro and van Spaendonk, Resie and Spalletta,
                      Gianfranco and Tesi, Niccolo' and Tijms, Betty and
                      Uitterlinden, André G and van der Lee, Sven J and Visser,
                      Pieter Jelle and Wagner, Michael and Wallon, David and Wang,
                      Li-San and Zarea, Aline and Clarimon, Jordi and van Swieten,
                      John C and Greicius, Michael D and Yokoyama, Jennifer S and
                      Cruchaga, Carlos and Hardy, John and Ramirez, Alfredo and
                      Mead, Simon and van der Flier, Wiesje M and van Duijn,
                      Cornelia M and Williams, Julie and Nicolas, Gaël and
                      Bellenguez, Céline and Lambert, Jean-Charles},
      title        = {{E}xome sequencing identifies rare damaging variants in
                      {ATP}8{B}4 and {ABCA}1 as risk factors for {A}lzheimer's
                      disease.},
      journal      = {Nature genetics},
      volume       = {54},
      number       = {12},
      issn         = {1061-4036},
      address      = {London},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DZNE-2022-01745},
      pages        = {1786 - 1794},
      year         = {2022},
      abstract     = {Alzheimer's disease (AD), the leading cause of dementia,
                      has an estimated heritability of approximately $70\%1.$ The
                      genetic component of AD has been mainly assessed using
                      genome-wide association studies, which do not capture the
                      risk contributed by rare variants2. Here, we compared the
                      gene-based burden of rare damaging variants in exome
                      sequencing data from 32,558 individuals-16,036 AD cases and
                      16,522 controls. Next to variants in TREM2, SORL1 and ABCA7,
                      we observed a significant association of rare, predicted
                      damaging variants in ATP8B4 and ABCA1 with AD risk, and a
                      suggestive signal in ADAM10. Additionally, the rare-variant
                      burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes
                      as potential drivers of respective AD-genome-wide
                      association study loci. Variants associated with the
                      strongest effect on AD risk, in particular loss-of-function
                      variants, are enriched in early-onset AD cases. Our results
                      provide additional evidence for a major role for amyloid-β
                      precursor protein processing, amyloid-β aggregation, lipid
                      metabolism and microglial function in AD.},
      keywords     = {Humans / Adenosine Triphosphatases: genetics / Alzheimer
                      Disease: genetics / ATP Binding Cassette Transporter 1:
                      genetics / Genome-Wide Association Study / Risk Factors /
                      Exosomes: genetics / ABCA1 protein, human (NLM Chemicals) /
                      Adenosine Triphosphatases (NLM Chemicals) / ATP Binding
                      Cassette Transporter 1 (NLM Chemicals) / ATP8B4 protein,
                      human (NLM Chemicals) / SORL1 protein, human (NLM
                      Chemicals)},
      cin          = {Patient studies, Bonn},
      ddc          = {570},
      cid          = {I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9729101},
      pubmed       = {pmid:36411364},
      doi          = {10.1038/s41588-022-01208-7},
      url          = {https://pub.dzne.de/record/165612},
}