1. He Y, Xun G, Xia K, Hu Z, Lv L, Deng Z, Zhao J. {{No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population}}. {Psychiatry Res};2011 (May 30);187(3):462-464.

The present study genotyped four SNPs (rs736707, rs2229864, rs362691, and rs2073559) of the Reelin gene (RELN) in 165 autistic trios, 67 sporadic autistic children and 283 healthy controls with Chinese Han pedigree. Both case-control analysis and transmission disequilibrium test (TDT) found no evidence of significant association. The results do not support previous positive findings and suggest that the four single-nucleotide polymorphisms (SNP) of RELN are unlikely to be associated with childhood autism in Chinese Han population.

2. Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. {{Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorder}}. {Hum Mol Genet};2011 (May 30)

Autism spectrum disorders are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification of genes and copy number variants associated with syndromic autism, little is known to date about the etiology of idiopathic non-syndromic autism. Sanger sequencing of 21 known autism susceptibility genes in 339 individuals with high-functioning, idiopathic autism spectrum disorder revealed de novo mutations in at least one of these genes in 6 of 339 probands (1.8%). Additionally, multiple events of oligogenic heterozygosity were seen, affecting 23 of 339 probands (6.8%). Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2, and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (p<0.001) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of autism spectrum disorders.