Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3

Henriette Nørmolle Buttenchon; Leslie Foldager; Tracey J. Flint; Inger Marie L. Olsen; Thomas Deleuran; Mette Nyegaard; Mette M. Hansen; Pekka Kallunki; Kenneth V. Christensen; Douglas H. Blackwood; Walter J. Muir; Steen E. Straarup; Thomas Damm Als; Merete Nordentoft; Anders D. Borglum; Ole Mors

doi:10.1097/YPG.0b013e32833a2066

Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3

Henriette Nørmolle Buttenchon, Leslie Foldager, Tracey J. Flint, Inger Marie L. Olsen, Thomas Deleuran, Mette Nyegaard, Mette M. Hansen, Pekka Kallunki, Kenneth V. Christensen, Douglas H. Blackwood, Walter J. Muir, Steen E. Straarup, Thomas Damm Als, Merete Nordentoft, Anders D. Borglum, Ole Mors

Research output: Contribution to journal › Journal article › Research › peer-review

Abstract

Objective Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest.Methods To investigate this region further, we conducted an association study of 22 DNA markers within a 1.14 Mb region in a Danish sample of 166 patients with BAD and 311 control individuals. Two-hundred and four Danish patients with schizophrenia were also included in the study.Results We observed highly significant allelic and genotypic association between BAD and two highly correlated markers. The risk allele of both markers considered separately conferred an odds ratio of 2 to an individual carrying one risk allele and an odds ratio of 4 for individuals carrying both risk alleles assuming an additive genetic model. These findings were supported by the haplotype analysis. In addition, we obtained a replication of four markers associated with BAD in an earlier UK study.The most significantly associated marker was also analyzed in a Scottish case-control sample and was earlier associated with BAD in the UK cohort. The association of that particular marker was strongly associated with BAD in a meta-analysis of the Danish, Scottish and UK sample (P=0.0003).The chromosome region confined by our most distant markers is gene-poor and harbours only a few predicted genes. This study implicates the Slynar locus. We confirmed one annotated Slynar transcript and identified a novel transcript in human brain cDNA.Conclusion This study confirms 12q24.3 as a region of functional importance in the pathogenesis of BAD and highlights the importance of focused genotyping. Psychiatr Genet 20:93-101 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Original language	English
Journal	Psychiatric Genetics
Volume	20
Issue number	3
Pages (from-to)	93-101
ISSN	0955-8829
DOIs	https://doi.org/10.1097/YPG.0b013e32833a2066
Publication status	Published - 2010
Externally published	Yes

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Buttenchon, H. N., Foldager, L., Flint, T. J., Olsen, I. M. L., Deleuran, T., Nyegaard, M., Hansen, M. M., Kallunki, P., Christensen, K. V., Blackwood, D. H., Muir, W. J., Straarup, S. E., Als, T. D., Nordentoft, M., Borglum, A. D., & Mors, O. (2010). Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3. Psychiatric Genetics, 20(3), 93-101. https://doi.org/10.1097/YPG.0b013e32833a2066

@article{3500f46d42ea46c7b8ddcff3cbcb25f9,

title = "Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3",

abstract = "Objective Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest.Methods To investigate this region further, we conducted an association study of 22 DNA markers within a 1.14 Mb region in a Danish sample of 166 patients with BAD and 311 control individuals. Two-hundred and four Danish patients with schizophrenia were also included in the study.Results We observed highly significant allelic and genotypic association between BAD and two highly correlated markers. The risk allele of both markers considered separately conferred an odds ratio of 2 to an individual carrying one risk allele and an odds ratio of 4 for individuals carrying both risk alleles assuming an additive genetic model. These findings were supported by the haplotype analysis. In addition, we obtained a replication of four markers associated with BAD in an earlier UK study.The most significantly associated marker was also analyzed in a Scottish case-control sample and was earlier associated with BAD in the UK cohort. The association of that particular marker was strongly associated with BAD in a meta-analysis of the Danish, Scottish and UK sample (P=0.0003).The chromosome region confined by our most distant markers is gene-poor and harbours only a few predicted genes. This study implicates the Slynar locus. We confirmed one annotated Slynar transcript and identified a novel transcript in human brain cDNA.Conclusion This study confirms 12q24.3 as a region of functional importance in the pathogenesis of BAD and highlights the importance of focused genotyping. Psychiatr Genet 20:93-101 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.",

author = "Buttenchon, {Henriette N{\o}rmolle} and Leslie Foldager and Flint, {Tracey J.} and Olsen, {Inger Marie L.} and Thomas Deleuran and Mette Nyegaard and Hansen, {Mette M.} and Pekka Kallunki and Christensen, {Kenneth V.} and Blackwood, {Douglas H.} and Muir, {Walter J.} and Straarup, {Steen E.} and Als, {Thomas Damm} and Merete Nordentoft and Borglum, {Anders D.} and Ole Mors",

year = "2010",

doi = "10.1097/YPG.0b013e32833a2066",

language = "English",

volume = "20",

pages = "93--101",

journal = "Psychiatric Genetics",

issn = "0955-8829",

publisher = "Lippincott Williams & Wilkins",

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Buttenchon, HN, Foldager, L, Flint, TJ, Olsen, IML, Deleuran, T, Nyegaard, M, Hansen, MM, Kallunki, P, Christensen, KV, Blackwood, DH, Muir, WJ, Straarup, SE, Als, TD, Nordentoft, M, Borglum, AD & Mors, O 2010, 'Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3', Psychiatric Genetics, vol. 20, no. 3, pp. 93-101. https://doi.org/10.1097/YPG.0b013e32833a2066

TY - JOUR

T1 - Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3

AU - Buttenchon, Henriette Nørmolle

AU - Foldager, Leslie

AU - Flint, Tracey J.

AU - Olsen, Inger Marie L.

AU - Deleuran, Thomas

AU - Nyegaard, Mette

AU - Hansen, Mette M.

AU - Kallunki, Pekka

AU - Christensen, Kenneth V.

AU - Blackwood, Douglas H.

AU - Muir, Walter J.

AU - Straarup, Steen E.

AU - Als, Thomas Damm

AU - Nordentoft, Merete

AU - Borglum, Anders D.

AU - Mors, Ole

PY - 2010

Y1 - 2010

N2 - Objective Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest.Methods To investigate this region further, we conducted an association study of 22 DNA markers within a 1.14 Mb region in a Danish sample of 166 patients with BAD and 311 control individuals. Two-hundred and four Danish patients with schizophrenia were also included in the study.Results We observed highly significant allelic and genotypic association between BAD and two highly correlated markers. The risk allele of both markers considered separately conferred an odds ratio of 2 to an individual carrying one risk allele and an odds ratio of 4 for individuals carrying both risk alleles assuming an additive genetic model. These findings were supported by the haplotype analysis. In addition, we obtained a replication of four markers associated with BAD in an earlier UK study.The most significantly associated marker was also analyzed in a Scottish case-control sample and was earlier associated with BAD in the UK cohort. The association of that particular marker was strongly associated with BAD in a meta-analysis of the Danish, Scottish and UK sample (P=0.0003).The chromosome region confined by our most distant markers is gene-poor and harbours only a few predicted genes. This study implicates the Slynar locus. We confirmed one annotated Slynar transcript and identified a novel transcript in human brain cDNA.Conclusion This study confirms 12q24.3 as a region of functional importance in the pathogenesis of BAD and highlights the importance of focused genotyping. Psychiatr Genet 20:93-101 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

AB - Objective Linkage and association studies of bipolar affective disorder (BAD) point out chromosome 12q24 as a region of interest.Methods To investigate this region further, we conducted an association study of 22 DNA markers within a 1.14 Mb region in a Danish sample of 166 patients with BAD and 311 control individuals. Two-hundred and four Danish patients with schizophrenia were also included in the study.Results We observed highly significant allelic and genotypic association between BAD and two highly correlated markers. The risk allele of both markers considered separately conferred an odds ratio of 2 to an individual carrying one risk allele and an odds ratio of 4 for individuals carrying both risk alleles assuming an additive genetic model. These findings were supported by the haplotype analysis. In addition, we obtained a replication of four markers associated with BAD in an earlier UK study.The most significantly associated marker was also analyzed in a Scottish case-control sample and was earlier associated with BAD in the UK cohort. The association of that particular marker was strongly associated with BAD in a meta-analysis of the Danish, Scottish and UK sample (P=0.0003).The chromosome region confined by our most distant markers is gene-poor and harbours only a few predicted genes. This study implicates the Slynar locus. We confirmed one annotated Slynar transcript and identified a novel transcript in human brain cDNA.Conclusion This study confirms 12q24.3 as a region of functional importance in the pathogenesis of BAD and highlights the importance of focused genotyping. Psychiatr Genet 20:93-101 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

U2 - 10.1097/YPG.0b013e32833a2066

DO - 10.1097/YPG.0b013e32833a2066

M3 - Journal article

SN - 0955-8829

VL - 20

SP - 93

EP - 101

JO - Psychiatric Genetics

JF - Psychiatric Genetics

IS - 3

ER -

Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3

Abstract

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