Abstract
BackgroundAutism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours. Several cell adhesion transmembrane leucine-rich repeat (LRR) proteins are highly expressed in the nervous system and are thought to be key regulators of its development. Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs.MethodsIn order to gain a better understanding of how the genetic variation within these four gene regions may influence susceptibility to ASDs, a family-based association study was undertaken in 661 families of European ancestry selected from four different ASD cohorts. In addition, a case-control study was undertaken across the four LRR genes, using logistic regression in probands with ASD of each population against 295 ECACC controls.ResultsSignificant results were found for LRRN3 and LRRTM3 (P < 0.005), using both single locus and haplotype approaches. These results were further supported by a case-control analysis, which also highlighted additional SNPs in LRRTM3.ConclusionsOverall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.
Highlights
Autism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/ behaviours
Additional file 1 transmission disequilibrium test (TDT) results for the single nucleotide polymorphisms genotyped across LRRTM1, LRRN1, LRRN3 and LRRTM3 genes in the singleton families of the International Molecular Genetic Study of Autism Consortium population
Additional file 2 TDT results for the single nucleotide polymorphisms genotyped across LRRTM1, LRRN1, LRRN3 and LRRTM3 genes in the Northern Dutch population
Summary
Autism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/ behaviours. We present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs. Autism is a genetically complex neurodevelopmental disorder, characterized by impairments in reciprocal social interaction and communication, along with restricted and stereotyped patterns of interests and behaviours [1]. Autism is a genetically complex neurodevelopmental disorder, characterized by impairments in reciprocal social interaction and communication, along with restricted and stereotyped patterns of interests and behaviours [1] It is an extremely heterogeneous and highly heritable condition, affecting predominantly males (with an average sex ratio of 4:1), and with an onset before 3 years of age [2,3]. A recent study suggested that LRR variants could possibly be involved in ASD susceptibility [13]
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