| pubmed-article:12399956 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12399956 | lifeskim:mentions | umls-concept:C0012655 | lld:lifeskim |
| pubmed-article:12399956 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:12399956 | lifeskim:mentions | umls-concept:C1510586 | lld:lifeskim |
| pubmed-article:12399956 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:12399956 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:12399956 | pubmed:dateCreated | 2002-10-25 | lld:pubmed |
| pubmed-article:12399956 | pubmed:abstractText | A polymorphic trinucleotide repeat (CGG/GCC) within the human Reelin gene (RELN) was examined as a candidate gene for autism spectrum disorders (ASDs). This gene encodes a large extracellular matrix protein that orchestrates neuronal positioning during corticogenesis. The CGG-repeat within the 5' untranslated region of RELN exon 1 was examined in 126 multiple-incidence families. The number of CGG repeats varied from three to 16 in affected individuals and controls, with no expansion or contraction observed during maternal (n = 291) or paternal (n = 287) transmissions in families with autistic probands. Although the frequencies of the RELN alleles and genotypes in affected children were not different from those in the comparison group, a family-based association test (FBAT) showed that the larger RELN alleles (> or = 11 repeats) were transmitted more often than expected to affected children (S = 43, E(S) = 34.5, P = 0.035); this was particularly the case for the 13-repeat RELN allele (S = 22, E(S) = 16, P = 0.034). Affected sib-pair (ASP) analysis found no evidence of excess sharing of RELN alleles in affected siblings. The impact of genotypes with large alleles (> or = 11 repeats) on the phenotypes in individuals with ASD was analyzed by ANOVA in a subset of the families for which results of the Autism Diagnostic Interview-Revised were available. Children with large RELN alleles did not show any difference in scores for questions related to the core symptoms of autistic disorder, but there was a tendency for children with at least one large RELN allele to have an earlier age at first phrase (chi(2) = 3.538, P = 0.06). Thus, although the case-control and affected sib-pair findings did not support a role for RELN in susceptibility to ASD, the more powerful family-based association study demonstrated that RELN alleles with larger numbers of CGG repeats may play a role in the etiology of some cases of ASD, especially in children without delayed phrase speech. | lld:pubmed |
| pubmed-article:12399956 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12399956 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12399956 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12399956 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12399956 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12399956 | pubmed:issn | 1359-4184 | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:MundtBB | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:LimPP | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:ZhangHH | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:MacciardiFF | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:ZhangCC | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:GraysonD RDR | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:GuidottiA RAR | lld:pubmed |
| pubmed-article:12399956 | pubmed:author | pubmed-author:HoldenJ J AJJ | lld:pubmed |
| pubmed-article:12399956 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12399956 | pubmed:volume | 7 | lld:pubmed |
| pubmed-article:12399956 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12399956 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12399956 | pubmed:pagination | 1012-7 | lld:pubmed |
| pubmed-article:12399956 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:12399956 | pubmed:meshHeading | pubmed-meshheading:12399956... | lld:pubmed |
| pubmed-article:12399956 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:12399956 | pubmed:articleTitle | Reelin gene alleles and susceptibility to autism spectrum disorders. | lld:pubmed |
| pubmed-article:12399956 | pubmed:affiliation | Department of Physiology, Queens University, Kingston, ON, Canada. | lld:pubmed |
| pubmed-article:12399956 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12399956 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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