Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.


Sousa, I; Clark, TG; Holt, R; Pagnamenta, AT; Mulder, EJ; Minderaa, RB; Bailey, AJ; Battaglia, A; Klauck, SM; Poustka, F; Monaco, AP; International Molecular Genetic Study of Autism Consortium (IMGS, ; (2010) Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Mol Autism, 1 (1). p. 7. ISSN 2040-2392 DOI: https://doi.org/10.1186/2040-2392-1-7

[img]
Preview
Text - Published Version
License:

Download (2MB) | Preview

Abstract

ABSTRACT: BACKGROUND: 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. 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. METHODS: In 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. RESULTS: Significant 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. CONCLUSIONS: Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Infectious Disease Epidemiology
Faculty of Infectious and Tropical Diseases > Dept of Pathogen Molecular Biology
PubMed ID: 20678249
Web of Science ID: 208808900007
URI: http://researchonline.lshtm.ac.uk/id/eprint/1926

Statistics


Download activity - last 12 months
Downloads since deposit
383Downloads
285Hits
Accesses by country - last 12 months
Accesses by referrer - last 12 months
Impact and interest
Additional statistics for this record are available via IRStats2

Actions (login required)

Edit Item Edit Item