Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-07-28

AUTHORS

Minerva M Carrasquillo, Olivia Belbin, Talisha A Hunter, Li Ma, Gina D Bisceglio, Fanggeng Zou, Julia E Crook, V Shane Pankratz, Sigrid B Sando, Jan O Aasly, Maria Barcikowska, Zbigniew K Wszolek, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Peter Passmore, Kevin Morgan, Steven G Younkin

ABSTRACT

BACKGROUND: A recently published genome-wide association study (GWAS) of late-onset Alzheimer's disease (LOAD) revealed genome-wide significant association of variants in or near MS4A4A, CD2AP, EPHA1 and CD33. Meta-analyses of this and a previously published GWAS revealed significant association at ABCA7 and MS4A, independent evidence for association of CD2AP, CD33 and EPHA1 and an opposing yet significant association of a variant near ARID5B. In this study, we genotyped five variants (in or near CD2AP, EPHA1, ARID5B, and CD33) in a large (2,634 LOAD, 4,201 controls), independent dataset comprising six case-control series from the USA and Europe. We performed meta-analyses of the association of these variants with LOAD and tested for association using logistic regression adjusted by age-at-diagnosis, gender, and APOE ε4 dosage. RESULTS: We found no significant evidence of series heterogeneity. Associations with LOAD were successfully replicated for EPHA1 (rs11767557; OR = 0.87, p = 5 × 10-4) and CD33 (rs3865444; OR = 0.92, p = 0.049), with odds ratios comparable to those previously reported. Although the two ARID5B variants (rs2588969 and rs494288) showed significant association with LOAD in meta-analysis of our dataset (p = 0.046 and 0.008, respectively), the associations did not survive adjustment for covariates (p = 0.30 and 0.11, respectively). We had insufficient evidence in our data to support the association of the CD2AP variant (rs9349407, p = 0.56). CONCLUSIONS: Our data overwhelmingly support the association of EPHA1 and CD33 variants with LOAD risk: addition of our data to the results previously reported (total n > 42,000) increased the strength of evidence for these variants, providing impressive p-values of 2.1 × 10-15 (EPHA1) and 1.8 × 10-13 (CD33). More... »

PAGES

54-54

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1750-1326-6-54

DOI

http://dx.doi.org/10.1186/1750-1326-6-54

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008987436

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21798052


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13 schema:description BACKGROUND: A recently published genome-wide association study (GWAS) of late-onset Alzheimer's disease (LOAD) revealed genome-wide significant association of variants in or near MS4A4A, CD2AP, EPHA1 and CD33. Meta-analyses of this and a previously published GWAS revealed significant association at ABCA7 and MS4A, independent evidence for association of CD2AP, CD33 and EPHA1 and an opposing yet significant association of a variant near ARID5B. In this study, we genotyped five variants (in or near CD2AP, EPHA1, ARID5B, and CD33) in a large (2,634 LOAD, 4,201 controls), independent dataset comprising six case-control series from the USA and Europe. We performed meta-analyses of the association of these variants with LOAD and tested for association using logistic regression adjusted by age-at-diagnosis, gender, and APOE ε4 dosage. RESULTS: We found no significant evidence of series heterogeneity. Associations with LOAD were successfully replicated for EPHA1 (rs11767557; OR = 0.87, p = 5 × 10-4) and CD33 (rs3865444; OR = 0.92, p = 0.049), with odds ratios comparable to those previously reported. Although the two ARID5B variants (rs2588969 and rs494288) showed significant association with LOAD in meta-analysis of our dataset (p = 0.046 and 0.008, respectively), the associations did not survive adjustment for covariates (p = 0.30 and 0.11, respectively). We had insufficient evidence in our data to support the association of the CD2AP variant (rs9349407, p = 0.56). CONCLUSIONS: Our data overwhelmingly support the association of EPHA1 and CD33 variants with LOAD risk: addition of our data to the results previously reported (total n > 42,000) increased the strength of evidence for these variants, providing impressive p-values of 2.1 × 10-15 (EPHA1) and 1.8 × 10-13 (CD33).
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20 schema:keywords ABCA7
21 ARID5B variants
22 ARID5B.
23 Alzheimer's disease
24 CD2AP
25 CD2AP variant
26 CD33
27 CD33 associations
28 CD33 variants
29 EphA1
30 Europe
31 GWAS
32 LOAD risk
33 MS4A4A
34 Replication of EPHA1
35 USA
36 addition
37 adjustment
38 age
39 association
40 association of CD2AP
41 association of EPHA1
42 association studies
43 case-control series
44 case-control study
45 comprising six case-control series
46 covariates
47 data
48 dataset
49 dataset comprising six case-control series
50 diagnosis
51 disease
52 dosage
53 evidence
54 gender
55 genome-wide significant association
56 heterogeneity
57 independent dataset comprising six case-control series
58 independent evidence
59 insufficient evidence
60 late-onset Alzheimer's disease
61 logistic regression
62 multi-center case-control study
63 odds ratio
64 ratio
65 regression
66 replication
67 results
68 risk
69 series
70 series heterogeneity
71 significant association
72 significant evidence
73 six case-control series
74 strength
75 strength of evidence
76 study
77 values
78 variants
79 wide association study
80 ε4 dosage
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