SNP in TBL1X ID'd As Candidate Gene for Male Autism

Strong X-chromosome-wide association revealed on meta-, joint, replication analyses

TUESDAY, Nov. 8 (HealthDay News) -- A genome-wide association study on the X-chromosome shows that a single nucleotide polymorphism (SNP), rs17321050, in the transducin β-like 1X-linked (TBL1X) gene is significantly linked to autism spectrum disorder (ASD) in males, according to a study published online Nov. 4 in Molecular Autism.

Ren-Hua Chung, Ph.D., from the University of Miami, and colleagues examined the genome-wide association study data on the X-chromosome and ASD. Three independent autism data sets, including two family data sets and one case-control data set, were included in meta- and joint analyses of the data sets. In addition, a replication analysis was performed using the two family data sets as the discovery data set, and the case-control data set for validation of the results.

The investigators found that both meta- and joint analyses revealed chromosome-wide significance from one SNP (rs17321050) in the TBL1X gene [OMIM:300196]. In the discovery data set, the SNP had significance close to the replication threshold of 0.0025, and in the validation data set, it passed the replication threshold. In the meta-analysis, two different SNPs, which were in the same gene but in linkage disequilibrium with rs17321050, had significance close to the chromosome-wide threshold.

"We found one intronic SNP, rs17321050, in TBL1X that demonstrated chromosome-wide evidence of association in the meta- and joint analyses, strongly supporting TBL1X as a risk factor for ASD. This finding was further supported by the replication analysis," the authors write.

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