Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-12-22
pubmed:abstractText
The number and frequency of susceptibility alleles at loci associated to most psychiatric disorders is largely unknown, in spite of its relevance for the design of studies aiming to find these alleles. Both, common polymorphisms and rare mutations may contribute to the genetic susceptibility to complex psychiatric disorders, being the relative relevance of each type of variation currently under debate. Here, we confirmed the existence of a common protective haplotype against schizophrenia at the dopamine D(3) receptor (DRD3) gene, by replication and pooled analysis with previous data (Mantel-Haenszel chi(2) P value = 0.00227; OR = 0.79, 95% CI 0.68-0.92, based on 794 cases and 1,078 controls from three independent populations of European origin). This protective haplotype is at very low frequency in Sub-Saharan Africans (median 0.06) and at intermediate frequencies in other populations (median 0.25). We also revealed, by examining the patterns of linkage disequilibrium around this gene, that the protective haplotype has reached high frequency in non-African populations due to selection acting, most probably, on a linked functional polymorphism, the non-synonymous single nucleotide polymorphism Ser9Gly (rs6280), also at DRD3. Thus, this finding shows that the natural selection may play a role in the existence of common alleles conferring different susceptibility to schizophrenia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1432-1203
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
607-13
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:18987889-Adolescent, pubmed-meshheading:18987889-Adult, pubmed-meshheading:18987889-Case-Control Studies, pubmed-meshheading:18987889-European Continental Ancestry Group, pubmed-meshheading:18987889-Female, pubmed-meshheading:18987889-Gene Frequency, pubmed-meshheading:18987889-Genetic Predisposition to Disease, pubmed-meshheading:18987889-Haplotypes, pubmed-meshheading:18987889-Humans, pubmed-meshheading:18987889-Linkage Disequilibrium, pubmed-meshheading:18987889-Male, pubmed-meshheading:18987889-Middle Aged, pubmed-meshheading:18987889-Polymorphism, Single Nucleotide, pubmed-meshheading:18987889-Receptors, Dopamine D3, pubmed-meshheading:18987889-Schizophrenia, pubmed-meshheading:18987889-Selection, Genetic, pubmed-meshheading:18987889-Spain, pubmed-meshheading:18987889-Young Adult
pubmed:year
2009
pubmed:articleTitle
A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia.
pubmed:affiliation
Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, University of Santiago Hospital Complex, Santiago de Compostela, Spain. javier.costas@usc.es
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't