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1.
Hum Hered ; 67(3): 163-73, 2009.
Article in English | MEDLINE | ID: mdl-19077434

ABSTRACT

BACKGROUND/AIMS: Recent studies have implicated a region on chromosome 1q21-23, including the NOS1AP gene, in susceptibility to schizophrenia. However, replication studies have been inconsistent, a fact that could partly relate to the marked psychopathological heterogeneity of schizophrenia. The aim of this study is to evaluate association of polymorphisms in the NOS1AP gene region to schizophrenia, in patients from a South American population isolate, and to assess if these variants are associated with specific clinical dimensions of the disorder. METHODS: We genotyped 24 densely spaced SNPs in the NOS1AP gene region in a schizophrenia trio sample. The transmission disequilibrium test (TDT) was applied to single marker and haplotype data. Association to clinical dimensions (identified by factor analysis) was evaluated using a quantitative transmission disequilibrium test (QTDT). RESULTS: We found significant association between eight SNPs in the NOS1AP gene region to schizophrenia (minimum p value = 0.004). The QTDT analysis of clinical dimensions revealed an association to a dimension consisting mainly of negative symptoms (minimum p value 0.001). CONCLUSIONS: Our findings are consistent with a role for NOS1AP in susceptibility to schizophrenia, especially for the 'negative syndrome' of the disorder.


Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Schizophrenia/genetics , Adult , Base Sequence , Factor Analysis, Statistical , Female , Genetic Markers , Genetic Predisposition to Disease , Genome-Wide Association Study , Haplotypes , Humans , Linkage Disequilibrium , Male , Middle Aged , Odds Ratio , Polymorphism, Single Nucleotide , Sequence Analysis, DNA , South America , Young Adult
2.
Hum Mol Genet ; 15(21): 3146-53, 2006 Nov 01.
Article in English | MEDLINE | ID: mdl-16984960

ABSTRACT

We performed a whole genome microsatellite marker scan in six multiplex families with bipolar (BP) mood disorder ascertained in Antioquia, a historically isolated population from North West Colombia. These families were characterized clinically using the approach employed in independent ongoing studies of BP in the closely related population of the Central Valley of Costa Rica. The most consistent linkage results from parametric and non-parametric analyses of the Colombian scan involved markers on 5q31-33, a region implicated by the previous studies of BP in Costa Rica. Because of these concordant results, a follow-up study with additional markers was undertaken in an expanded set of Colombian and Costa Rican families; this provided a genome-wide significant evidence of linkage of BPI to a candidate region of approximately 10 cM in 5q31-33 (maximum non-parametric linkage score=4.395, P<0.00004). Interestingly, this region has been implicated in several previous genetic studies of schizophrenia and psychosis, including disease association with variants of the enthoprotin and gamma-aminobutyric acid receptor genes.


Subject(s)
Bipolar Disorder/genetics , Chromosomes, Human, Pair 5/genetics , Genetic Predisposition to Disease , Colombia , Costa Rica , Female , Founder Effect , Genome, Human , Humans , Lod Score , Male , Microsatellite Repeats , Pedigree , Statistics, Nonparametric
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