In April 2016 Manchester eScholar was replaced by the University of Manchester’s new Research Information Management System, Pure. In the autumn the University’s research outputs will be available to search and browse via a new Research Portal. Until then the University’s full publication record can be accessed via a temporary portal and the old eScholar content is available to search and browse via this archive.

A genome-wide linkage and association scan reveals novel loci for autism.

Weiss, Lauren A; Arking, Dan E; , Weiss, LA, Arking, DE, The Gene Discovery Project of Johns Hopkins and the Autism Consortium ; Daly, Mark J; Chakravarti, Aravinda

Nature. 2009;461(7265):802-8.

Access to files

Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:

Full-text held externally

Abstract

Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 x 10(-7)). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Publication form:
Collaborator(s):
Published date:
Journal title:
Abbreviated journal title:
ISSN:
Place of publication:
England
Volume:
461
Issue:
7265
Pagination:
802-8
Digital Object Identifier:
10.1038/nature08490
Pubmed Identifier:
19812673
Pii Identifier:
nature08490
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:83363
Created by:
Hookway, Sue
Created:
18th June, 2010, 10:44:57
Last modified by:
Hookway, Sue
Last modified:
10th March, 2014, 19:31:18

Can we help?

The library chat service will be available from 11am-3pm Monday to Friday (excluding Bank Holidays). You can also email your enquiry to us.