Research
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
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* Corresponding author: Eden R Martin emartin1@med.miami.edu
1 Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, PO Box 019132 (M-860), Miami, FL 33101, USA
2 Center for Applied Genomics, Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA
3 School of Medicine, University of South Carolina, 6311 Garners Ferry Road, Columbia, SC, 29209, USA
4 Department of Pathology and Laboratory Medicine, University of Pennsylvania, 3620 Hamilton Walk, Philadelphia, PA, USA
5 Center for Human Genetics Research, Vanderbilt University Medical Center, 2215 Garland Ave, Nashville, TN, 37232, USA
Molecular Autism 2011, 2:18 doi:10.1186/2040-2392-2-18
Published: 4 November 2011Additional files
Additional file 1:
Detailed statistics for subphenotypes of the data sets. Additional file 1 contains detailed statistics for the subphenotype information for the John P Hussman Institute for Human Genomics/Center for Human Genetics Research (HIHG/CHGR) and Autism Genetic Resource Exchange (AGRE) data sets.
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Additional file 2:
A list of candidate genes for ASD used in the candidate gene analysis. Additional file 2 is a list of the 21 candidate genes for autism spectrum disorder used to calculate statistical significance in candidate genes on the X chromosome.
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Additional file 3:
Procedures for the statistical analyses. Additional file 3 describes the procedures used in the three analyses (that is, joint analysis, meta-analysis and replication analysis).
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Additional file 4:
Quality control steps. Additional file 4 lists the detailed statistics for the samples passing the quality control (QC) steps.
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Additional file 5:
LD pattern among SNPs in the TBL1X gene based on unrelated individuals. Additional file 4 gives the linkage disequilibrium (LD) measures (r2) for the significant SNPs and surrounding SNPs in the transducin β-like 1X-linked (TBL1X) gene.
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Additional file 6:
Allele and genotype frequencies of parents, cases and controls for significant SNPs. Additional file 6 shows the allele and genotype frequencies of parents, cases and controls for the significant SNPs reported in Tables 2 and 3.
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Additional file 7:
Power study results. Additional file 7 shows the power curves under different relative risks, minor allele frequencies and disease models, given the sample sizes in our study.
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Additional file 8:
Differences in missing data between males and females in the study. Additional file 8 describes the problem of differences in missing genotype data, with statistics and figures showing the problem.
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Additional file 9:
Missing genotype rates for the markers rs5934665, rs17321050 and rs2188766. Additional file 9 lists the missing genotype rates for males, females and overall samples for the significant markers in TBL1X.
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