Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease
<p>Abstract</p> <p>Background</p> <p>Late onset Alzheimer's disease (LOAD) is a common sporadic form of the illness, affecting individuals above the age of 65 yrs. A prominent hypothesis for the aetiopathology of Alzheimer's disease is that in the presence of...
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| Format: | Article |
| Language: | English |
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BMC
2007-01-01
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| Series: | BMC Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2156/8/3 |
| _version_ | 1818543383772135424 |
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| author | Morris John C Mayo Kevin Kauwe John SK Mukherjee Odity Goate Alison M |
| author_facet | Morris John C Mayo Kevin Kauwe John SK Mukherjee Odity Goate Alison M |
| author_sort | Morris John C |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Late onset Alzheimer's disease (LOAD) is a common sporadic form of the illness, affecting individuals above the age of 65 yrs. A prominent hypothesis for the aetiopathology of Alzheimer's disease is that in the presence of a β-amyloid load, individuals expressing a pathogenic form of tau protein (<it>MAPT</it>) are at increased risk for developing the disease. Genetic studies in this pursuit have, however, yielded conflicting results. A recent study showed a significant haplotype association (H1c) with AD. The current study is an attempt to replicate this association in an independently ascertained cohort.</p> <p>Results</p> <p>In this report we present the findings of a haplotype analysis at the <it>MAPT </it>locus. We failed to detect evidence of association of the H1c haplotype at the <it>MAPT </it>locus with LOAD. None of the six SNPs forming the H1c haplotype showed evidence of association with disease. In addition, nested clade analysis suggested the presence of independent mutations at multiple points in the haplotype network or homoplasy at the <it>MAPT </it>locus. Such homoplasy can confound single SNP tests for association. We do not detect evidence that the set of SNPs forming the H1c haplotype in general or rs242557 in particular are pathogenic for LOAD.</p> <p>Conclusion</p> <p>In conclusion, we employed two contemporary haplotype analysis tools to perform haplotype association analysis at the <it>MAPT </it>locus. Our data suggest that the tagged SNPs forming the H1c haplotype do not have a causal role in the pathogenesis of LOAD.</p> |
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| format | Article |
| id | doaj.art-5531cf2e283d4526bfcc20a6eabba4cb |
| institution | Directory Open Access Journal |
| issn | 1471-2156 |
| language | English |
| last_indexed | 2024-12-11T22:34:40Z |
| publishDate | 2007-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genetics |
| spelling | doaj.art-5531cf2e283d4526bfcc20a6eabba4cb2022-12-22T00:48:01ZengBMCBMC Genetics1471-21562007-01-0181310.1186/1471-2156-8-3Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's diseaseMorris John CMayo KevinKauwe John SKMukherjee OdityGoate Alison M<p>Abstract</p> <p>Background</p> <p>Late onset Alzheimer's disease (LOAD) is a common sporadic form of the illness, affecting individuals above the age of 65 yrs. A prominent hypothesis for the aetiopathology of Alzheimer's disease is that in the presence of a β-amyloid load, individuals expressing a pathogenic form of tau protein (<it>MAPT</it>) are at increased risk for developing the disease. Genetic studies in this pursuit have, however, yielded conflicting results. A recent study showed a significant haplotype association (H1c) with AD. The current study is an attempt to replicate this association in an independently ascertained cohort.</p> <p>Results</p> <p>In this report we present the findings of a haplotype analysis at the <it>MAPT </it>locus. We failed to detect evidence of association of the H1c haplotype at the <it>MAPT </it>locus with LOAD. None of the six SNPs forming the H1c haplotype showed evidence of association with disease. In addition, nested clade analysis suggested the presence of independent mutations at multiple points in the haplotype network or homoplasy at the <it>MAPT </it>locus. Such homoplasy can confound single SNP tests for association. We do not detect evidence that the set of SNPs forming the H1c haplotype in general or rs242557 in particular are pathogenic for LOAD.</p> <p>Conclusion</p> <p>In conclusion, we employed two contemporary haplotype analysis tools to perform haplotype association analysis at the <it>MAPT </it>locus. Our data suggest that the tagged SNPs forming the H1c haplotype do not have a causal role in the pathogenesis of LOAD.</p>http://www.biomedcentral.com/1471-2156/8/3 |
| spellingShingle | Morris John C Mayo Kevin Kauwe John SK Mukherjee Odity Goate Alison M Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease BMC Genetics |
| title | Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease |
| title_full | Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease |
| title_fullStr | Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease |
| title_full_unstemmed | Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease |
| title_short | Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease |
| title_sort | haplotype based association analysis of the mapt locus in late onset alzheimer s disease |
| url | http://www.biomedcentral.com/1471-2156/8/3 |
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