Abstract

BackgroundRecent studies have indicated that quantitative autistic traits (QATs) of parents reflect inherited liabilities that may index background genetic risk for clinical autism spectrum disorder (ASD) in their offspring. Moreover, preferential mating for QATs has been observed as a potential factor in concentrating autistic liabilities in some families across generations. Heretofore, intergenerational studies of QATs have focused almost exclusively on Caucasian populations—the present study explored these phenomena in a well-characterized Hispanic population.MethodsThe present study examined QAT scores in siblings and parents of 83 Hispanic probands meeting research diagnostic criteria for ASD, and 64 non-ASD controls, using the Social Responsiveness Scale-2 (SRS-2). Ancestry of the probands was characterized by genotype, using information from 541,929 single nucleotide polymorphic markers.ResultsIn families of Hispanic children with an ASD diagnosis, the pattern of quantitative trait correlations observed between ASD-affected children and their first-degree relatives (ICCs on the order of 0.20), between unaffected first-degree relatives in ASD-affected families (sibling/mother ICC = 0.36; sibling/father ICC = 0.53), and between spouses (mother/father ICC = 0.48) were in keeping with the influence of transmitted background genetic risk and strong preferential mating for variation in quantitative autistic trait burden. Results from analysis of ancestry-informative genetic markers among probands in this sample were consistent with that from other Hispanic populations.ConclusionsQuantitative autistic traits represent measurable indices of inherited liability to ASD in Hispanic families. The accumulation of autistic traits occurs within generations, between spouses, and across generations, among Hispanic families affected by ASD. The occurrence of preferential mating for QATs—the magnitude of which may vary across cultures—constitutes a mechanism by which background genetic liability for ASD can accumulate in a given family in successive generations.

Highlights

  • Recent studies have indicated that quantitative autistic traits (QATs) of parents reflect inherited liabilities that may index background genetic risk for clinical autism spectrum disorder (ASD) in their offspring

  • The primary aim of the present study is to characterize the aggregation of quantitative autistic traits in family members of Hispanic ASD-diagnosed individuals, among whom ancestral origin was specified by genotype, using methods for quantitative trait analysis that have been implemented in previous studies involving predominantly Caucasian family samples [10]

  • As has been observed in prior studies, QATs aggregated in the male siblings of ASD probands, though to a lower degree than in previousreports involving samples with higher proportions of multiplex families

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Summary

Introduction

Recent studies have indicated that quantitative autistic traits (QATs) of parents reflect inherited liabilities that may index background genetic risk for clinical autism spectrum disorder (ASD) in their offspring. Even in patients carrying specific deleterious ASD-associated mutations (e.g., the 16p11.2 deletion), significant variation in phenotypic expression is associated with variations in social responsiveness, intelligence, and other phenotypic markers among first-degree relatives [5]. These associations underscore the role of background genetic factors in risk for ASD. Significant associations between parents and their offspring for SRS-2 scores demonstrate the transmission of autistic traits between generations through heritable genetic factors

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