Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.

ABSTRACT:

Background

It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD.

Methods

HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniE

SUBMITTER: Woodbury-Smith M 

PROVIDER: S-EPMC5304400 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature