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

Publication ,  Journal Article
Skaar, DA; Shao, Y; Haines, JL; Stenger, JE; Jaworski, J; Martin, ER; DeLong, GR; Moore, JH; McCauley, JL; Sutcliffe, JS; Ashley-Koch, AE ...
Published in: Mol Psychiatry
June 2005

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.

Duke Scholars

Published In

Mol Psychiatry

DOI

ISSN

1359-4184

Publication Date

June 2005

Volume

10

Issue

6

Start / End Page

563 / 571

Location

England

Related Subject Headings

  • White People
  • Serine Endopeptidases
  • Reelin Protein
  • Psychiatry
  • Polymorphism, Single Nucleotide
  • Pedigree
  • Nerve Tissue Proteins
  • Male
  • Linkage Disequilibrium
  • Infant
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Skaar, D. A., Shao, Y., Haines, J. L., Stenger, J. E., Jaworski, J., Martin, E. R., … Pericak-Vance, M. A. (2005). Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry, 10(6), 563–571. https://doi.org/10.1038/sj.mp.4001614
Skaar, D. A., Y. Shao, J. L. Haines, J. E. Stenger, J. Jaworski, E. R. Martin, G. R. DeLong, et al. “Analysis of the RELN gene as a genetic risk factor for autism.Mol Psychiatry 10, no. 6 (June 2005): 563–71. 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. Mol Psychiatry. 2005 Jun;10(6):563–71.
Skaar, D. A., et al. “Analysis of the RELN gene as a genetic risk factor for autism.Mol Psychiatry, vol. 10, no. 6, June 2005, pp. 563–71. Pubmed, doi:10.1038/sj.mp.4001614.
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. Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry. 2005 Jun;10(6):563–571.

Published In

Mol Psychiatry

DOI

ISSN

1359-4184

Publication Date

June 2005

Volume

10

Issue

6

Start / End Page

563 / 571

Location

England

Related Subject Headings

  • White People
  • Serine Endopeptidases
  • Reelin Protein
  • Psychiatry
  • Polymorphism, Single Nucleotide
  • Pedigree
  • Nerve Tissue Proteins
  • Male
  • Linkage Disequilibrium
  • Infant