Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families

Autism Genetic Resource Exchange Consortium

Research output: Contribution to journalArticlepeer-review

Abstract

Autism is a syndrome characterized by deficits in language and social skills and by repetitive behaviors. We hypothesized that potential quantitative trait loci (QTLs) related to component autism endophenotypes might underlie putative or significant regions of autism linkage. We performed nonparametric multipoint linkage analyses, in 152 families from the Autism Genetic Resource Exchange, focusing on three traits derived from the Autism Diagnostic Interview: "age at first word," "age at first phrase," and a composite measure of "repetitive and stereotyped behavior." Families were genotyped for 335 markers, and multipoint sib pair linkage analyses were conducted. Using nonparametric multipoint linkage analysis, we found the strongest QTL evidence for age at first word on chromosome 7q (nonparametric test statistic [Z] 2.98; P =. 001), and subsequent linkage analyses of additional markers and association analyses in the same region supported the initial result (Z = 2.85, P =. 002; x2 = 18.84, df 8, P =. 016). Moreover, the peak fine-mapping result for repetitive behavior (Z = 2.48; P =. 007) localized to a region overlapping this language QTL. The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with the disorder.

Original languageEnglish (US)
Pages (from-to)60-71
Number of pages12
JournalAmerican journal of human genetics
Volume70
Issue number1
DOIs
StatePublished - 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families'. Together they form a unique fingerprint.

Cite this