Suggestion of linkage between manic‐depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p

Eiberg, Hans; Ewald, Henrik; Mors, Ole

doi:10.1111/j.1399-0004.1993.tb03892.x

Cited by 10 publications

(1 citation statement)

References 29 publications

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“…First, the PRKCB1 gene was located in the chromosome 16p11.2 in humans. There exists linkage evidence implicating the chromosome 16p region in mood disorder (Byerley and Badner, 2011;Eiberg et al, 1993;Savonenko et al, 2008) and autism (Philippi et al, 2005). Secondly, the protein encoded by PRKCB1 gene belongs to the Protein kinase C (PKC) family, whose members phosphorylate a wide variety of protein targets.…”

Section: Discussionmentioning

confidence: 99%

Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression

Guo¹,

Li²,

Zhang³

et al. 2015

Journal of Psychiatric Research

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Section: Discussionmentioning

confidence: 99%

Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression

Guo¹,

Li²,

Zhang³

et al. 2015

Journal of Psychiatric Research

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Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22

et al. 1997

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As part of the four-center NIMH Genetics Initiative on Bipolar Disorder we carried out a genomic scan of chromosomes 3, 5, 15, 16,17, and 22. Genotyping was performed on a set of 540 DNAs from 97 families, enriched for affected relative pairs and parents where available. We report here the results of the initial 74 markers that have been typed on this set of DNAs. The average distance between markers (theta) was 12.3 cM. Nonparametric analysis of excess allele sharing among affected sibling pairs used the SIBPAL program of the S.A.G.E. package to test three hierarchical models of affected status. D16S2619 gave some evidence of linkage to bipolar disorder, with P = 0.006 for Model II (in which bipolar 1, bipolar 2 and schizoaffective-bipolar type individuals are considered affected). Nearby markers also showed increased allele sharing. A second interesting region was toward the telomere of chromosome 5q, where D5S1456 and nearby markers showed increased allele sharing; for D5S1456, P = 0.05, 0.015 and 0.008 as the models of affected status become more broad. MOD score analysis also supported the possible presence of a susceptibility locus in this region of chromosome 5. A pair of adjacent markers on chromosome 3, D3S2405 and D3S3038, showed a modest increased allele sharing in the broad model. Several isolated markers had excess allele sharing at the P < 0.05 level under a single model. D15S217 showed a MOD score of 2.37 (P < 0.025). Multipoint analysis flagged the region of chromosome 22 around D22S533 as the most interesting. Thus, several regions showed modest evidence for linkage to bipolar disorder in this initial genomic scan of these chromosomes, including broad regions near previous reports of possible linkage.

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Exclusion of Linkage Between Bipolar Affective Disorder and Chromosome 16 in 12 Australian Pedigrees

et al. 1997

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Several recent reports of possible susceptibility loci for bipolar affective disorder (BAD) have identified sites on a number of chromosomes. Specifically, two Danish studies have suggested the presence of a susceptibility locus for BAD on chromosome 16p13. As the first step of a whole genome scan, we screened 12 Australian families with markers at 16p13 and also a number of markers spanning the entirety of chromosome 16. Linkage analysis was undertaken using both the parametric lod score method (two- and multipoint) with different models and diagnostic thresholds, and the nonparametric affected pedigree member (APM) method. Results of lod score analysis convincingly excluded the 16p13 region from linkage to BAD in these families, while APM provided no support for linkage. Furthermore, using the broad definition of BAD, with individuals affected by bipolar I and II and recurrent unipolar disorders included, the entire chromosome was excluded from linkage to BAD with autosomal-dominant transmission at a maximum age-specific penetrance of 60%, and with autosomal-dominant and recessive modes of transmission at a maximum age-specific penetrance level of 90%. Diagnostic thresholds which did not include unipolar affected individuals were somewhat less informative. However, a majority (between 63-96%, depending upon the model) of the chromosome was clearly excluded using narrow diagnostic thresholds. Moreover, no positive lod scores were obtained at theta = 0.00 for any tested model or diagnostic threshold. Our results indicate that no linkage exists between BAD and chromosome 16 markers in this group of Australian families.

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Suggestion of linkage between manic‐depressive illness and the enzyme phosphoglycolate phosphatase (PGP) on chromosome 16p

Cited by 10 publications

References 29 publications

Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression

Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression

Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22

Exclusion of Linkage Between Bipolar Affective Disorder and Chromosome 16 in 12 Australian Pedigrees

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