Genome-Wide Scan for Autism Susceptibility Genes

TLDR

Family and twin studies suggest a genetic component in autism. The study screened 51 multiplex families with 264 microsatellite markers using non‑parametric linkage analysis, recruiting participants through a multinational clinical collaboration. Linkage analysis identified 11 nominally significant regions, including overlaps with previously reported loci on chromosomes 2q, 7q, 16p, 19p, and 15q11‑q13, and six novel regions on 4q, 5p, 6q, 10q, 18q, and Xp, with the strongest signal at marker D6S283 (LOD = 2.23, P = 0.0013).

Abstract

Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P -values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11-q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013).