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P1–362: Genetic evaluation of the Alzheimer's disease locus on chromosome 9p21.3
Author(s) -
Zuchner Stephan,
Xu Pu-Ting,
Browning Carrie,
Bronson Paola G.,
Martin Eden R.,
Gilbert John R.,
Haines Jonathan L.,
Pericak-Vance Margaret A.
Publication year - 2006
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2006.05.740
Subject(s) - cdkn2a , genetics , locus (genetics) , single nucleotide polymorphism , biology , candidate gene , allele , genetic heterogeneity , gene , genetic linkage , genotype , phenotype
responsible for the LOD peak in this region of the chromosome 8, using variance-component procedure in SOLAR with increased sample size, and using Illumina Goldengate genotyping method. Methods: We genotyped four micro-satellite markers under this linkage region using additional 158 families with the same linkage analysis as in our previous study. We then followed up a 1-LOD score down region from the linkage peak using high density SNPs by genotyping 1536 Illumina Goldengate SNPs for association study to fine map the region. Results: We obtained an updated two-point LOD score of 2.34 at the marker D8S1179. In addition, the new analysis narrowed the peak region to about 20cM (between 128 to149cM; LOD 1.0). We are currently genotyping 1536 Illumina Goldengate SNP OPA to follow up the 24mb area between q23.3 to q24.23 in Chr8 under the new linkage peak. Conclusions: These data strengthen the evidence for a potential gene(s) in this region contributing to the genetic etiology of AAO in AD.