2011
DOI: 10.1038/ng.803
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Abstract: We sought to identify new susceptibility loci for Alzheimer’s disease (AD) through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer’s Disease Genetic Consortium (ADGC). First, we undertook a combined analysis of four genome-wide association datasets (Stage 1) and identified 10 novel variants with P≤1×10−5. These were tested for association in an independent sample (Stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (St… Show more

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Cited by 1,669 publications
(1,294 citation statements)
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References 38 publications
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“…Of the genes identified within the 2 Mb region surrounding the previously identified GWAS loci from the IGAP study,1, 2, 3, 4, 5, 6 several were nominally significant. CYP3A43 is a member of the cytochrome P450 superfamily of enzymes.…”
Section: Discussionmentioning
confidence: 94%
See 2 more Smart Citations
“…Of the genes identified within the 2 Mb region surrounding the previously identified GWAS loci from the IGAP study,1, 2, 3, 4, 5, 6 several were nominally significant. CYP3A43 is a member of the cytochrome P450 superfamily of enzymes.…”
Section: Discussionmentioning
confidence: 94%
“…We also included known early‐onset AD genes and genes implicated in earlier sequencing efforts in LOAD 1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 16. Candidate genes evaluated included: APP, PSEN1, PSEN2, GRN, MAPT, TREM2, PLD3, APOE, ABCA7, SORL1, CR1, BIN1, CD2AP, EPHA1, CLU, MS4A6A, PICALM, CD33, HLA‐DRB5, HLA‐DRB1, PTK2B, SLC24A4, RIN3, INPP5D, MEF2C, NME8, ZCWPW1, CELF1, FERMT2, CASS4, TREML2, and AKAP9 .…”
Section: Methodsmentioning
confidence: 99%
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“…Expression of human ABCA7 (hABCA7) carrying the rs3752246 risk allele led to increases in secreted amyloid‐ β 40 and amyloid‐ β 42 and β ‐secretase activity in CHO‐ and HEK‐A β PPSwe cells, and molecular weight determination showed loss of post‐translational modification in the risk‐allele peptide spanning position 1527 41. Another common variant, rs3764650, was the first top significant hit reported in ABCA7 6. This variant is located in intron 13, and is not in strong LD with the present rs4147929 (http://snipa.helmholtz-muenchen.de/snipa3/, r 2 = 0.21), and therefore most likely does not contribute to the present findings.…”
Section: Discussionmentioning
confidence: 99%
“…Recent demographic studies have shown a decrease in incidences in developed countries most likely due to improved treatment and prevention of vascular risk factors 2, 3, 4. Genome‐wide association studies (GWAS) have revealed novel molecular pathways, among these the ATP‐binding‐cassette transporter A7 ( ABCA7 ),5, 6 which may be involved in both transmembrane lipid transport and phagocytosis of amyloid‐ β in the brain 7, 8, 9, 10, 11, 12, 13, 14. Following these GWAS findings, rare loss‐of‐function variants in ABCA7 were reported to confer risk of Alzheimer's disease in case–control studies in Icelandic and Belgian populations 15, 16.…”
Section: Introductionmentioning
confidence: 99%