Linkage analysis of a large swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23

Lindholm, Eva; Ekholm, Birgit; Balciuniene, Jorune; Johansson, Gunnel; Castensson, Anja; Koisti, Markus; Nylander, Per-Olof; Pettersson, Ulf; Adolfsson, Rolf; Jazin, Elena

doi:10.1002/(sici)1096-8628(19990820)88:4<369::aid-ajmg14>3.0.co;2-9

Cited by 51 publications

(19 citation statements)

References 31 publications

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“…A series of immunohistochemical experiments similarly found reductions in GABA B immunolabeling in hippocampus, prefrontal cortex, inferior temporal cortex, and the entorhinal cortex of subjects with schizophrenia (Ishikawa et al, 2005; Mizukami et al, 2000, 2002). The loci of both the GABBR1 gene (6p21.3) and GABBR2 gene (5q34) have been established as susceptibility loci for schizophrenia (Lindholm et al, 1999; Petryshen et al, 2005). However, one study has found a weak linkage between the GABBR1 gene and schizophrenia (Zai et al, 2005), while two other studies have found no connection (Imai et al, 2002; Zhao et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Deficits in GABAB receptor system in schizophrenia and mood disorders: A postmortem study

Fatemi

Folsom

Thuras

2011

Schizophrenia Research

115

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Postmortem and genetic studies have clearly demonstrated changes in GABAB receptors in neuropsychiatric disorders such as autism, bipolar disorder, major depression, and schizophrenia. Moreover, a number of recent studies have stressed the importance of cerebellar dysfunction in these same disorders. In the current study, we examined protein levels of the two GABAB receptor subunits GABBR1 and GABBR2 in lateral cerebella from a well-characterized cohort of subjects with schizophrenia (n=15), bipolar disorder (n=14), major depression (n=13) and healthy controls (n=12). We found significant reductions in protein for both GABBR1 and GABBR2 in lateral cerebella from subjects with schizophrenia, bipolar disorder and major depression when compared with controls. These results provide further evidence of GABAergic dysfunction in these three disorders as well as identify potential targets for therapeutic intervention.

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Section: Introductionmentioning

confidence: 99%

Deficits in GABAB receptor system in schizophrenia and mood disorders: A postmortem study

Fatemi

Folsom

Thuras

2011

Schizophrenia Research

115

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“…Since Straub et al (1995) and Kendler et al (1996) initially reported the linkage of markers mapped to chromosome 6p24-21 to schizophrenia spectrum disorders, there have been at least 15 additional linkage studies; of these, at least 7 provided supportive evidence for susceptibility loci on chromosome 6p (Schwab et al 1995; Levinson et al 1996; Maziade et al 1997; Lindholm et al 1999; Turecki et al 1997; Straub et al 2002a; Lewis et al 2003). These susceptibility loci span a broad region of 25Mb between D6S296 and D6S291, including four possibly distinct subregions: 6p25-24, 6p24, 6p23-22, and 6p21 (reviewed by Straub et al 2002b).…”

Section: Introductionmentioning

confidence: 99%

Association study of DTNBP1 with schizophrenia in a US sample

Zuo¹,

Luο²,

Kranzler³

et al. 2009

Psychiatric Genetics

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Background Straub et al. (2002b) located a susceptibility region for schizophrenia at the DTNBP1 locus. At least 40 studies (including one study in US populations) attempted to replicate this original finding, but the reported findings are highly diverse and at least five pathways by which dysbindin protein might be involved in schizophrenia have been proposed. The present study aimed to test the association in two common US populations by using powerful analytic methods. Methods Six markers at DTNBP1 were genotyped by mass spectroscopy (“MassARRAY” technique) in a sample of 663 subjects, including 346 healthy subjects [298 European-Americans (EAs) and 48 African-Americans (AAs)] and 317 subjects with schizophrenia (235 EAs and 82 AAs). Thirty-eight ancestry-informative markers (AIMs) were genotyped in this sample to infer the ancestry proportions. Diplotype, haplotype, genotype, and allele frequency distributions were compared between cases and controls, controlling for possible population stratification, admixture, and sex-specific effects, and taking interaction effects into account, using a logistic regression analysis (an extended structured association (SA) method). Results Conventional case-control comparisons showed that genotypes of the markers P1578 (rs1018381) and P1583 (rs909706) were nominally associated with schizophrenia in EAs and in AAs, respectively. These associations became less or non-significant after controlling for population stratification and admixture effects (using SA or regression analysis), and became non-significant after correction for multiple testing. However, regression analysis demonstrated that the common diplotypes (ACCCTT/GCCGCC or GCCGCC/GCCGCC) and the interaction effects of haplotypes GCCGCC × GCCGCC significantly affected risk for schizophrenia in EAs, effects that were modified by sex. Fine-mapping using δ or J statistics located the specific markers (δ: P1328; J: P1333) closest to the putative risk sites in EAs. Conclusions The present study shows that DTNBP1 is a risk gene for schizophrenia in EAs. Variation at DTNBP1 may modify risk for schizophrenia in this population.

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“…Associations have also been found for other genetic loci linked to the short arm of chromosome 6. These include the rs111602326 and rs113663679 loci within the ARVD8 gene (MIM 607450) [49], the HLA-DRB1 gene (MIM 142857) [50], and the rs113785696 and rs111341380 loci associated with schizophrenia type 3 (MIM 600511) [51, 52]. …”

Section: Discussionmentioning

confidence: 99%

Association betweenANKK1(rs1800497) andLTA(rs909253) Genetic Variants and Risk of Schizophrenia

Arab

Elhawary

2015

BioMed Research International

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Limited research has assessed associations between schizophrenia and genetic variants of the ankyrin repeat and kinase domain containing 1 (ANKK1) and lymphotoxin-alpha (LTA) genes among individuals of Middle Eastern ancestry. Here we present the first association study investigating the ANKK1 rs1800497 (T>C) and LTA rs909253 (A>G) single-nucleotide polymorphisms in an Egyptian population. Among 120 patients with DSM-IV and PANSS (Positive and Negative Syndrome Scale) assessments of schizophrenia and 100 healthy controls, we determined the genotypes for the polymorphisms using endonuclease digestion of amplified genomic DNA. Results confirmed previous findings from different ethnic populations, in that the rs1800497 and rs909253 polymorphisms were both associated with risk of schizophrenia. Differences between the genotypes of cases and controls were strongly significant (P = 0.0005 for rs1800497 and P = 0.001 for rs909253). The relative risk to schizophrenia was 1.2 (P = 0.01) for the C allele and 0.8 (P = 0.04) for the G allele. The CC, GG, and combined CC/AA genotypes were all more frequent in cases than in controls. These results support an association between ANKK1 and LTA genetic markers and vulnerability to schizophrenia and show the potential influence of just one copy of the mutant C or G allele in the Egyptian population.

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Linkage analysis of a large swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23

Cited by 51 publications

References 31 publications

Deficits in GABAB receptor system in schizophrenia and mood disorders: A postmortem study

Deficits in GABAB receptor system in schizophrenia and mood disorders: A postmortem study

Association study of DTNBP1 with schizophrenia in a US sample

Association betweenANKK1(rs1800497) andLTA(rs909253) Genetic Variants and Risk of Schizophrenia

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