Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16

Thomas H Wassink; Veronica J Vieland; Val C Sheffield; Christopher W Bartlett; Rhinda Goedken; Deborah Childress; Joseph Piven

doi:10.1097/YPG.0b013e3282f9b48e

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Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16

Journal article

Peer reviewed

Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16

Thomas H Wassink, Veronica J Vieland, Val C Sheffield, Christopher W Bartlett, Rhinda Goedken, Deborah Childress and Joseph Piven

Psychiatric genetics, Vol.18(2), pp.85-91

04/2008

DOI: 10.1097/YPG.0b013e3282f9b48e

PMCID: PMC4442314

PMID: 18349700

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Abstract

Objective: To apply phenotypic and statistical methods designed to account for heterogeneity to linkage analyses of the autism Collaborative Linkage Study of Autism (CLSA) affected sibling pair families. Method: The CLSA contains two sets of 57 families each; Set 1 has been analyzed previously, whereas this study presents the first analyses of Set 2. The two sets were analyzed independently, and were further split based on the degree of phrase speech delay in the siblings. Linkage analysis was carried out using the posterior probability of linkage (PPL), a Bayesian statistic that provides a mathematically rigorous mechanism for combining linkage evidence across multiple samples. Results: Two-point PPLs from Set 1 led to the follow-up genotyping of 18 markers around linkage peaks on 1q, 13p, 13q, 16q, and 17q in both sets of families. Multipoint PPLs were then calculated for the entire CLSA sample. These analyses identified four regions with at least modest evidence in support of linkage: 1q at 173 cM, PPL=0.12; 13p at 21 cM, PPL=0.16; 16q at 63 cM, PPL=0.36; Xq at 40 cM, PPL=0.11. Conclusion: We find strengthened evidence for linkage of autism to chromosomes 1q, 13p, 16q, and Xq, and diminished evidence for linkage to 7q and 13q. The verity of these findings will be tested by continuing to update our PPL analyses with data from additional autism datasets.

Genetics

Autism

positional cloning

language delay

linkage

heterogeneity

Details

Title: Subtitle: Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16
Creators: Thomas H Wassink - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Veronica J Vieland - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Val C Sheffield - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Christopher W Bartlett - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Rhinda Goedken - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Deborah Childress - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Joseph Piven - Department of Neurodevelopmental Disorders, Research Center and Department of Psychiatry, University of North Carolina, North Carolina, USA
Resource Type: Journal article
Publication Details: Psychiatric genetics, Vol.18(2), pp.85-91
DOI: 10.1097/YPG.0b013e3282f9b48e
PMID: 18349700
PMCID: PMC4442314
NLM abbreviation: Psychiatr Genet
ISSN: 0955-8829
eISSN: 1473-5873
Publisher: Ovid Technologies (Wolters Kluwer Health)
Language: English
Date published: 04/2008
Academic Unit: Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984004181402771

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