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The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

Prandini, Paolaa; Pasquali, Alessandraa; Malerba, Giovannia; Marostica, Andreaa; Zusi, Chiaraa; Xumerle, Lucianoa; Muglia, Pierandreab; Da Ros, Luciob; Ratti, Emiliangelob; Trabetti, Elisabettaa; Pignatti, Pier FrancoaThe Italian Autism Network (ITAN)

doi: 10.1097/YPG.0b013e32835185c9
Original Articles

Objective The objective of this study was to replicate an association study on a newly collected Italian autism spectrum disorder (ASD) cohort by studying the genetic markers associated with ASDs from recent genome-wide and candidate gene association studies.

Methods We have genotyped 746 individuals from 227 families of the Italian Autism Network using allelic discrimination TaqMan assays for seven common single-nucleotide polymorphisms: rs2292813 (SLC25A12 gene), rs35678 (ATP2B2 gene), rs4307059 (between CDH9 and CDH10 genes), rs10513025 (between SEMA5A and TAS2R1 genes), rs6872664 (PITX1 gene), rs1861972 (EN2 gene), and rs4141463 (MACROD2 gene). A family-based association study was conducted.

Results A significant association was found for two of seven markers: rs4307059 T allele (odds ratio: 1.758, SE=0.236; P-value=0.017) and rs35678 TC genotype (odds ratio: 0.528, SE=0.199; P-value=0.0013).

Conclusion A preferential allele transmission of two markers located at loci previously associated with social and verbal communication skill has been confirmed in patients of a new ASD family sample.

aDepartment of Life and Reproduction Sciences, University of Verona, Verona, Italy

bSmithKline Foundation, Rome, Italy

Paola Prandini and Alessandra Pasquali contributed equally to the writing of this article.

Correspondence to Paola Prandini, PhD, Department of Life and Reproduction Sciences, University of Verona, 37134 Verona, Italy Tel: +39 045 802 7183; fax: +39 045 802 7180; e-mail:;

Received June 17, 2011

Accepted October 3, 2011

© 2012 Lippincott Williams & Wilkins, Inc.