Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease

@article{Hollingworth2011CommonVI,
  title={Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease},
  author={Paul Hollingworth and Denise H. Harold and Rebecca Sims and Amy Gerrish and Jean-Charles Lambert and Minerva M. Carrasquillo and Richard Abraham and Marian L. Hamshere and Jaspreet Singh Pahwa and Valentina Moskvina and Kimberley Dowzell and Nicola Jones and Alexandra Stretton and Charlene Thomas and Alexander L. Richards and Dobril K. Ivanov and Caroline S. Widdowson and Jade A. Chapman and Simon Lovestone and John Powell and Petroula Proitsi and Michelle K Lupton and Carol Brayne and David C. Rubinsztein and Michael Gill and Brian A Lawlor and Aoibhinn Lynch and Kristelle S. Brown and Peter Passmore and David Craig and Bernadette McGuinness and Stephen Todd and Clive Holmes and David M A Mann and A. David Smith and Helen Beaumont and Donald R. Warden and Gordon Wilcock and Seth Love and Patrick Gavin Kehoe and Nigel M. Hooper and Emma R.L.C. Vardy and John Hardy and Simon Mead and Nick C Fox and Martin N. Rossor and John Collinge and Wolfgang Maier and Frank Jessen and Britta Sch{\"u}rmann and Eckart Rüther and Reiner Heun and Heike K{\"o}lsch and Hendrik van den Bussche and Isabella Heuser and Johannes Kornhuber and Jens Wiltfang and Martin Dichgans and Lutz Fr{\"o}lich and Harald Hampel and Michael H{\"u}ll and John E. Gallacher and Dan Rujescu and Ina Giegling and Alison M. Goate and John S. K. Kauwe and Carlos Cruchaga and Petra Nowotny and John C. Morris and Kevin Mayo and Kristel Sleegers and Karolien Bettens and Sebastiaan Engelborghs and Peter Paul de Deyn and Christine van Broeckhoven and Gill Livingston and Nicholas J Bass and Hugh Malcolm Douglas Gurling and Andrew McQuillin and Rhian Gwilliam and Panagiotis Deloukas and Ammar Al-Chalabi and Christopher E. Shaw and Magda Tsolaki and Andrew B. Singleton and Rita Guerreiro and Thomas W. M{\"u}hleisen and Markus M. N{\"o}then and Susanne Moebus and Karl-Heinz J{\"o}ckel and Norman Klopp and Heinz-Erich Wichmann and Vernon S Pankratz and Sigrid Botne Sando and Jan O Aasly and Maria Barcikowska and Zbigniew K. Wszolek and Dennis W. Dickson and Neill R. Graff-Radford and Ronald C. Petersen and Cornelia M. van Duijn and Monique M. B. Breteler and Mohammad Arfan Ikram and Anita L. DeStefano and Annette L Fitzpatrick and Oscar L. Lopez and Lenore J. Launer and Sudha Seshadri and Claudine Berr and Dominique Campion and Jacques Epelbaum and Jean-François Dartigues and Christophe Tzourio and Annick Alp{\'e}rovitch and Mark G. Lathrop and Thomas Feulner and Patricia Friedrich and Caterina Riehle and Michael Krawczak and Stefan Schreiber and Manuel Mayhaus and S Nicolhaus and Stefan Wagenpfeil and Stacy Steinberg and Hreinn Stef{\'a}nsson and K{\'a}ri Stef{\'a}nsson and J{\'o}n G Sn{\ae}dal and Sigurbj{\"o}rn Bj{\"o}rnsson and Palmi V. Jonsson and Vincent Chouraki and Benjamin Genier-Boley and Mikko Hiltunen and Hilkka Soininen and Onofre Combarros and Diana Z{\'e}l{\'e}nika and Marcel Delepine and Maria Jesus Bullido and Florence Pasquier and Ignacio Mateo and Ana Frank‐Garc{\'i}a and Elisa Porcellini and Olivier Hanon and Eliecer Coto and Victoria {\'A}lvarez and Paolo Bosco and Gabriele Siciliano and Michelangelo Mancuso and Francesco Panza and Vincenzo Solfrizzi and Benedetta Nacmias and Sandro Sorbi and Paola Boss{\`u} and Paola Piccardi and Beatrice Arosio and Giorgio Annoni and Davide Seripa and Alberto Pilotto and Elio Scarpini and Daniela Galimberti and Alexis Brice and Didier Hannequin and Federico Licastro and Lesley Jones and Peter A Holmans and Thorl{\'a}kur J{\'o}nsson and Matthias Riemenschneider and Kevin Morgan and Steven G. Younkin and Michael J. Owen and Michael C. O’Donovan and Philippe Amouyel and Julie Williams},
  journal={Nature genetics},
  year={2011},
  volume={43},
  pages={429 - 435}
}
We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ≤ 1 × 10−5. We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed… 

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

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Associations Between Genetic Variants in 19p13 and 19q13 Regions and Susceptibility to Alzheimer Disease: A Meta-Analysis

Results from the meta-analysis revealed that the pooled ABCA7 rs376465, CD33 rs3865444, TOMM40 rs157580, and rs2075650 variants were significantly associated with the susceptibility to AD.

Associations between CD33 rs3865444 and ABCA7 rs3764650 polymorphisms and susceptibility to Alzheimer’s disease

Results of the present meta-analysis indicate that ABCA7 rs3764650 might increase the risk of Alzheimer’s disease, particularly for older Caucasians.

Meta-Analysis of the Association between Variants in ABCA7 and Alzheimer's Disease.

It is confirmed that ABCA7 genetic variants, especially the LOF mutations, were significantly associated with the risk of AD.

ABCA7 Genotypes Confer Alzheimer's Disease Risk by Modulating Amyloid-β Pathology.

It is suggested that ABCA7 genotypes contribute to the AD risk through involvement in amyloid-β deposition on in vivo imaging, but not in tau pathology, brain atrophy, or decreased glucose metabolism.

A common haplotype lowers SPI1 expression in myeloid cells and delays age at onset for Alzheimer’s disease of Alzheimer's Alzheimer's Disease Neuroimaging Initiative

The results suggest that lower SPI1 expression reduces AD risk by modulating myeloid cell gene expression and function, and reveal an AAOS- and CSF Aβ 42 -associated SNP, rs1057233, in the previously reported CELF1 locus.
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