Gender-specific genetic score based on single nucleotide polymorphisms can predict risk
FRIDAY, May 18 (HealthDay News) -- For siblings of children with autism, a gender-specific genetic score based on single nucleotide polymorphisms (SNPs) in genes with biological and functional relevance to autism can predict the risk of developing an autism spectrum disorder (ASD), according to a study presented at the annual International Meeting for Autism Research, held from May 17 to 19 in Toronto.
Francois Liebaert, M.D., from IntegraGen in Evry, France, and colleagues performed a genome-wide association study to identify SNPs associated with autism in 544 families with more than one child diagnosed with an ASD (exploratory data set); these were then confirmed in an independent group of 668 families (reproduction data set). SNPs which correlated with autism were prioritized based on the relevant biological and functional data of the gene in which each SNP was located. A gender-specific genetic score was constructed based on the sum of individual risk-associated alleles.
The researchers identified 38 SNPs that were associated with autism in the exploratory and reproduction data sets. For 1,974 children with autism and 584 unaffected siblings, a genetic score was constructed. For males, a genetic score of 23 correlated with 90 percent specificity, 30 percent sensitivity, and a positive predictive value of 51 percent. For females, a genetic score of 28 was linked with 81 percent specificity, 50 percent sensitivity, and 22 percent positive predictive value.
"By looking at a combination of gender-specific, risk-associated, genetic common variants, we were able to identify siblings of children with ASD who have a significantly increased risk of developing autism," Liebaert said in a statement.
Several authors are employees of IntegraGen.