Linked Life Data

15274049

Source:http://linkedlifedata.com/resource/pubmed/id/15274049

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2004-7-26
pubmed:abstractText
Molecular genetic studies have suggested a reading disability (RD, dyslexia) susceptibility locus on chromosome 15q. We have previously mapped this locus by association to the region surrounding D15S994. Very little is known about the neurobiological processes involved in RD, and therefore selecting positional candidate genes for analysis based upon function is difficult. Nevertheless we were able to identify two functional candidates based upon existing hypotheses. Both were phospholipase genes, phospholipase C beta 2 (PLCB2) and phospholipase A2, group IVB (cytosolic; PLA2G4B). D15S944 is located within PLCB2 and is 1.6 Mb from PLA2G4B. We examined each gene for association using a mixed direct and indirect association approach, a case (n = 164)/control (n = 174) sample, and a partially overlapping sample of 178 RD parent-proband trios from South Wales and England. Mutation analysis revealed 14 sequence variants in PLCB2 and 33 variants in PLA2G4B. All non-synonymous SNPs were genotyped as were SNPs across each gene with maximum distance between SNPs of 6 kb. Case-control analyses revealed modest evidence (0.01 < P < 0.05) for association between a single variant in PLCB2 and two variants in PLA2G4B. However, association was not confirmed in the family based sample. As the latter sample has previously generated replicated significant evidence for association between RD and markers/haplotypes surrounding D15S944, it should have sufficient power to detect association to variants in susceptibility gene itself. We conclude that neither gene accounts for the association signal we previously observed. As these are the only clear cut functional candidate genes in the region, identification of the putative susceptibility locus for RD on 15q will require more methodical non-hypothesis driven positional cloning approaches.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1552-4841
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
129B
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
97-103
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed-meshheading:15274049-Alleles, pubmed-meshheading:15274049-Case-Control Studies, pubmed-meshheading:15274049-Chromosome Mapping, pubmed-meshheading:15274049-Chromosomes, Human, Pair 15, pubmed-meshheading:15274049-DNA, pubmed-meshheading:15274049-DNA Mutational Analysis, pubmed-meshheading:15274049-Dyslexia, pubmed-meshheading:15274049-Female, pubmed-meshheading:15274049-Gene Frequency, pubmed-meshheading:15274049-Genetic Predisposition to Disease, pubmed-meshheading:15274049-Genotype, pubmed-meshheading:15274049-Humans, pubmed-meshheading:15274049-Isoenzymes, pubmed-meshheading:15274049-Male, pubmed-meshheading:15274049-Mutation, pubmed-meshheading:15274049-Nuclear Family, pubmed-meshheading:15274049-Phospholipase C beta, pubmed-meshheading:15274049-Phospholipases, pubmed-meshheading:15274049-Phospholipases A, pubmed-meshheading:15274049-Phospholipases A2, pubmed-meshheading:15274049-Polymorphism, Single Nucleotide, pubmed-meshheading:15274049-Type C Phospholipases
pubmed:year
2004
pubmed:articleTitle
Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability.
pubmed:affiliation
Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't