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

D. A. Skaar, Y. Shao, J. L. Haines, J. E. Stenger, J. Jaworski, Eden R Martin, G. R. DeLong, J. H. Moore, Jacob L McCauley, J. S. Sutcliffe, A. E. Ashley-Koch, Michael Cuccaro, S. E. Folstein, John Gilbert, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

137 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)563-571
Number of pages9
JournalMolecular Psychiatry
Volume10
Issue number6
DOIs
StatePublished - Jun 1 2005
Externally publishedYes

Fingerprint

Autistic Disorder
Genes
5' Untranslated Regions
Single Nucleotide Polymorphism
Chromosomes, Human, Pair 7
Haplotypes
Genome
1-phenyl-3,3-dimethyltriazene
Proteins
Datasets

Keywords

  • Association
  • Autism
  • Candidate gene
  • Chromosome 7q
  • RELN

ASJC Scopus subject areas

  • Molecular Biology
  • Psychiatry and Mental health

Cite this

Analysis of the RELN gene as a genetic risk factor for autism. / Skaar, D. A.; Shao, Y.; Haines, J. L.; Stenger, J. E.; Jaworski, J.; Martin, Eden R; DeLong, G. R.; Moore, J. H.; McCauley, Jacob L; Sutcliffe, J. S.; Ashley-Koch, A. E.; Cuccaro, Michael; Folstein, S. E.; Gilbert, John; Pericak-Vance, Margaret A.

In: Molecular Psychiatry, Vol. 10, No. 6, 01.06.2005, p. 563-571.

Research output: Contribution to journalArticle

Skaar, DA, Shao, Y, Haines, JL, Stenger, JE, Jaworski, J, Martin, ER, DeLong, GR, Moore, JH, McCauley, JL, Sutcliffe, JS, Ashley-Koch, AE, Cuccaro, M, Folstein, SE, Gilbert, J & Pericak-Vance, MA 2005, 'Analysis of the RELN gene as a genetic risk factor for autism', Molecular Psychiatry, vol. 10, no. 6, pp. 563-571. https://doi.org/10.1038/sj.mp.4001614
Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER et al. Analysis of the RELN gene as a genetic risk factor for autism. Molecular Psychiatry. 2005 Jun 1;10(6):563-571. https://doi.org/10.1038/sj.mp.4001614
Skaar, D. A. ; Shao, Y. ; Haines, J. L. ; Stenger, J. E. ; Jaworski, J. ; Martin, Eden R ; DeLong, G. R. ; Moore, J. H. ; McCauley, Jacob L ; Sutcliffe, J. S. ; Ashley-Koch, A. E. ; Cuccaro, Michael ; Folstein, S. E. ; Gilbert, John ; Pericak-Vance, Margaret A. / Analysis of the RELN gene as a genetic risk factor for autism. In: Molecular Psychiatry. 2005 ; Vol. 10, No. 6. pp. 563-571.
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