Evidence for a Language Quantitative Trait Locus on Chromosome 7q (abstract)

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Am J Hum Genet 2002 Jan;70(1):60-71

Evidence for a Language Quantitative Trait Locus on Chromosome 7q in

Multiplex Autism Families.

Alarcon M, Cantor RM, Liu J, Gilliam TC, Geschwind DH.

Center for Neurobehavioral Genetics and Neuropsychiatric Research Institute,

and Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA.

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; chi2=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.

PMID: 11741194 [PubMed - as supplied by publisher]