title: The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors: Department of Life and Reproduction Sciences, University of Verona, Verona, Italy. paola.prandini@univr.it
authors: Paola
authors: P
authors: Prandini
authors: Alessandra
authors: A
authors: Pasquali
authors: Giovanni
authors: G
authors: Malerba
authors: Andrea
authors: A
authors: Marostica
authors: Chiara
authors: C
authors: Zusi
authors: Luciano
authors: L
authors: Xumerle
authors: Pierandrea
authors: P
authors: Muglia
authors: Lucio
authors: L
authors: Da Ros
authors: Emiliangelo
authors: E
authors: Ratti
authors: Elisabetta
authors: E
authors: Trabetti
authors: Pier Franco
authors: PF
authors: Pignatti
mesh_terms: D016022:Case-Control Studies; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D005190:Family; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results