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Analysis of the RELN gene as a genetic risk factor for autism.

Several genome-wide screens have indicated the presence of an autism susceptibility locus within the distal long arm of chromosome 7 (7q). Mapping at 7q22 within this region is the candidate gene reelin (RELN). RELN encodes a signaling protein that plays a pivotal role in the migration of several neuronal cell types and in the development of neural connections. Given these neurodevelopmental functions, recent reports that RELN influences genetic risk for autism are of significant interest. The total data set consists of 218 Caucasian families collected by our group, 85 Caucasian families collected by AGRE, and 68 Caucasian families collected at Tufts University were tested for genetic association of RELN variants to autism. Markers included five single-nucleotide polymorphisms (SNPs) and a repeat in the 5'-untranslated region (5'-UTR). Tests for association in Duke and AGRE families were also performed on four additional SNPs in the genes PSMC2 and ORC5L, which flank RELN. Family-based association analyses (PDT, Geno-PDT, and FBAT) were used to test for association of single-locus markers and multilocus haplotypes with autism. The most significant association identified from this combined data set was for the 5'-UTR repeat (PDT P-value=0.002). These analyses show the potential of RELN as an important contributor to genetic risk in autism.

Pubmed ID: 15558079


  • Skaar DA
  • Shao Y
  • Haines JL
  • Stenger JE
  • Jaworski J
  • Martin ER
  • DeLong GR
  • Moore JH
  • McCauley JL
  • Sutcliffe JS
  • Ashley-Koch AE
  • Cuccaro ML
  • Folstein SE
  • Gilbert JR
  • Pericak-Vance MA


Molecular psychiatry

Publication Data

June 27, 2005

Associated Grants

  • Agency: NICHD NIH HHS, Id: NIH R01 HD36701
  • Agency: NINDS NIH HHS, Id: NIH R01 NS36768
  • Agency: NINDS NIH HHS, Id: NS26630

Mesh Terms

  • 5' Untranslated Regions
  • Autistic Disorder
  • Cell Adhesion Molecules, Neuronal
  • Chromosomes, Human, Pair 7
  • European Continental Ancestry Group
  • Extracellular Matrix Proteins
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infant
  • Linkage Disequilibrium
  • Male
  • Nerve Tissue Proteins
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Serine Endopeptidases