Presentation is loading. Please wait.

Presentation is loading. Please wait.

Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single- Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite.

Similar presentations


Presentation on theme: "Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single- Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite."— Presentation transcript:

1 Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single- Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite Marker Assays and Finding of Significant Linkage to Chromosome 6q22  F.A. Middleton, M.T. Pato, K.L. Gentile, C.P. Morley, X. Zhao, A.F. Eisener, A. Brown, T.L. Petryshen, A.N. Kirby, H. Medeiros, C. Carvalho, A. Macedo, A. Dourado, I. Coelho, J. Valente, M.J. Soares, C.P. Ferreira, M. Lei, M.H. Azevedo, J.L. Kennedy, M.J. Daly, P. Sklar, C.N. Pato  The American Journal of Human Genetics  Volume 74, Issue 5, Pages (May 2004) DOI: /420775 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Comparison of SNP call rate across 25 families used in the biopolar study. The mean ±SE of the SNP call rate for each of the families included in our study is shown. The order of the X-axis is arbitrary and reflects undisplayed family ID numbers. We note that 20 of the 25 families had a mean call rate of ⩾97%. Analysis of the families with the lowest call rates revealed a potential interaction of the sample age and/or handling with optimal assay performance. The American Journal of Human Genetics  , DOI: ( /420775) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Linkage signals obtained with 10-cM–spaced and 4-cM–spaced microsatellite assays, as well as the HMA10K SNP genotyping assay. These assays were performed on the same individuals from each of the same 12 families. Note the high correlation of the different assays in general, and that for both chromosomes 6 and 11, the SNP assay detected major linkage peaks at locations where the information content and coverage of the microsatellite panels were relatively low. Mb, megabase position; MSM, microsatellite markers. The American Journal of Human Genetics  , DOI: ( /420775) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

4 Figure 3 NPL analysis of 25 families with bipolar disorder from the Portuguese Island Collection. The number of each chromosome is shown at the top of each plot. The X-axis indicates the physical position (Mb) of the SNP marker. The Y-axis indicates the NPL Z score (black) or Kong and Cox LOD score (gray). For this scan, the empirical limit for genomewide significance was an NPL score of 3.85 and a LOD score of Note that only the peak on chromosome 6 at Mb was significant when both NPL Z and LOD thresholds were used. The American Journal of Human Genetics  , DOI: ( /420775) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Comparison of the 12-family (gray) and 25-family (black) genomewide linkage scans for selected chromosomes showing suggestive or significant linkage (see table 1). The X-axis indicates physical position (Mb). Note that for both scans, the signal on chromosome 6 at position Mb is the only genomic region that achieves genomewide significance (of NPL score and/or LOD score). The American Journal of Human Genetics  , DOI: ( /420775) Copyright © 2004 The American Society of Human Genetics Terms and Conditions


Download ppt "Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single- Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite."

Similar presentations


Ads by Google