An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males

P Koefoed; T V O Hansen; D P D Woldbye; T Werge; O Mors; T Hansen; K D Jakobsen; M Nordentoft; A Wang; T G Bolwig; J F Rehfeld; P Koefoed; T V O Hansen; D P D Woldbye; T Werge; O Mors; Thomas Folkmann Hansen; Klaus Damgaard Jakobsen; M Nordentoft; A Wang; T G Bolwig; J F Rehfeld

An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males

P Koefoed, T V O Hansen, D P D Woldbye, T Werge, O Mors, T Hansen, K D Jakobsen, M Nordentoft, A Wang, T G Bolwig, J F Rehfeld, P Koefoed, T V O Hansen, D P D Woldbye, T Werge, O Mors, Thomas Folkmann Hansen, Klaus Damgaard Jakobsen, M Nordentoft, A WangT G Bolwig, J F Rehfeld

15 Citations (Scopus)

Abstract

OBJECTIVE: To identify whether a genetic variation (rs1800857; IVS1-5T>C) in the neuropeptide cholecystokinin-A receptor (CCKAR) gene is a risk factor in the pathogenesis of schizophrenia. METhod: The variation was analysed in a case-control design comprising 508 patients with schizophrenia and 1619 control subjects. A possible functional impact of this variant on CCKAR protein synthesis through alterations in splicing was analysed in an exon-trapping assay. RESULTS: In males only, the risk variant, IVS1-5C, was associated with a significantly increased risk of schizophrenia. Carrying one risk allele was associated with an increased risk of 1.74 (Odds Ratio, OR) and homozygosity (CC) was associated with an OR of 3.19. The variation had no impact on protein synthesis of CCKAR. CONCLUSION: This is the first report associating the CCKAR gene variant with schizophrenia specifically in men. Our study strengthens the conclusion that a CCKAR dysfunction could be involved in the aetiology of schizophrenia.

Original language	English
Journal	Acta Psychiatrica Scandinavica
Volume	120
Issue number	4
Pages (from-to)	281-7
Number of pages	6
ISSN	0001-690X
Publication status	Published - 2009

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Koefoed, P., Hansen, T. V. O., Woldbye, D. P. D., Werge, T., Mors, O., Hansen, T., Jakobsen, K. D., Nordentoft, M., Wang, A., Bolwig, T. G., Rehfeld, J. F., Koefoed, P., Hansen, T. V. O., Woldbye, D. P. D., Werge, T., Mors, O., Hansen, T. F., Jakobsen, K. D., Nordentoft, M., ... Rehfeld, J. F. (2009). An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males. Acta Psychiatrica Scandinavica, 120(4), 281-7.

Koefoed, P, Hansen, TVO, Woldbye, DPD , Werge, T, Mors, O, Hansen, T, Jakobsen, KD, Nordentoft, M, Wang, A, Bolwig, TG, Rehfeld, JF, Koefoed, P, Hansen, TVO, Woldbye, DPD, Werge, T, Mors, O, Hansen, TF, Jakobsen, KD, Nordentoft, M , Wang, A, Bolwig, TG & Rehfeld, JF 2009, 'An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males', Acta Psychiatrica Scandinavica, vol. 120, no. 4, pp. 281-7.

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title = "An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males",

abstract = "OBJECTIVE: To identify whether a genetic variation (rs1800857; IVS1-5T>C) in the neuropeptide cholecystokinin-A receptor (CCKAR) gene is a risk factor in the pathogenesis of schizophrenia. METhod: The variation was analysed in a case-control design comprising 508 patients with schizophrenia and 1619 control subjects. A possible functional impact of this variant on CCKAR protein synthesis through alterations in splicing was analysed in an exon-trapping assay. RESULTS: In males only, the risk variant, IVS1-5C, was associated with a significantly increased risk of schizophrenia. Carrying one risk allele was associated with an increased risk of 1.74 (Odds Ratio, OR) and homozygosity (CC) was associated with an OR of 3.19. The variation had no impact on protein synthesis of CCKAR. CONCLUSION: This is the first report associating the CCKAR gene variant with schizophrenia specifically in men. Our study strengthens the conclusion that a CCKAR dysfunction could be involved in the aetiology of schizophrenia.",

author = "P Koefoed and Hansen, {T V O} and Woldbye, {D P D} and T Werge and O Mors and T Hansen and Jakobsen, {K D} and M Nordentoft and A Wang and Bolwig, {T G} and Rehfeld, {J F} and P Koefoed and Hansen, {T V O} and Woldbye, {D P D} and T Werge and O Mors and Hansen, {Thomas Folkmann} and Jakobsen, {Klaus Damgaard} and M Nordentoft and A Wang and Bolwig, {T G} and Rehfeld, {J F}",

note = "Keywords: Adult; Case-Control Studies; Chromosomes, Human, Pair 4; Denmark; Diagnostic and Statistical Manual of Mental Disorders; Female; Gene Expression; Humans; International Classification of Diseases; Introns; Male; Polymorphism, Single Nucleotide; RNA Splice Sites; RNA, Messenger; Receptor, Cholecystokinin A; Schizophrenia; Severity of Illness Index; Sex Distribution",

year = "2009",

language = "English",

volume = "120",

pages = "281--7",

journal = "Acta Psychiatrica Scandinavica",

issn = "0001-690X",

publisher = "Wiley",

number = "4",

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T1 - An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males

AU - Koefoed, P

AU - Hansen, T V O

AU - Woldbye, D P D

AU - Werge, T

AU - Mors, O

AU - Hansen, T

AU - Jakobsen, K D

AU - Nordentoft, M

AU - Wang, A

AU - Bolwig, T G

AU - Rehfeld, J F

AU - Koefoed, P

AU - Hansen, T V O

AU - Woldbye, D P D

AU - Werge, T

AU - Mors, O

AU - Hansen, Thomas Folkmann

AU - Jakobsen, Klaus Damgaard

AU - Nordentoft, M

AU - Wang, A

AU - Bolwig, T G

AU - Rehfeld, J F

N1 - Keywords: Adult; Case-Control Studies; Chromosomes, Human, Pair 4; Denmark; Diagnostic and Statistical Manual of Mental Disorders; Female; Gene Expression; Humans; International Classification of Diseases; Introns; Male; Polymorphism, Single Nucleotide; RNA Splice Sites; RNA, Messenger; Receptor, Cholecystokinin A; Schizophrenia; Severity of Illness Index; Sex Distribution

PY - 2009

Y1 - 2009

N2 - OBJECTIVE: To identify whether a genetic variation (rs1800857; IVS1-5T>C) in the neuropeptide cholecystokinin-A receptor (CCKAR) gene is a risk factor in the pathogenesis of schizophrenia. METhod: The variation was analysed in a case-control design comprising 508 patients with schizophrenia and 1619 control subjects. A possible functional impact of this variant on CCKAR protein synthesis through alterations in splicing was analysed in an exon-trapping assay. RESULTS: In males only, the risk variant, IVS1-5C, was associated with a significantly increased risk of schizophrenia. Carrying one risk allele was associated with an increased risk of 1.74 (Odds Ratio, OR) and homozygosity (CC) was associated with an OR of 3.19. The variation had no impact on protein synthesis of CCKAR. CONCLUSION: This is the first report associating the CCKAR gene variant with schizophrenia specifically in men. Our study strengthens the conclusion that a CCKAR dysfunction could be involved in the aetiology of schizophrenia.

AB - OBJECTIVE: To identify whether a genetic variation (rs1800857; IVS1-5T>C) in the neuropeptide cholecystokinin-A receptor (CCKAR) gene is a risk factor in the pathogenesis of schizophrenia. METhod: The variation was analysed in a case-control design comprising 508 patients with schizophrenia and 1619 control subjects. A possible functional impact of this variant on CCKAR protein synthesis through alterations in splicing was analysed in an exon-trapping assay. RESULTS: In males only, the risk variant, IVS1-5C, was associated with a significantly increased risk of schizophrenia. Carrying one risk allele was associated with an increased risk of 1.74 (Odds Ratio, OR) and homozygosity (CC) was associated with an OR of 3.19. The variation had no impact on protein synthesis of CCKAR. CONCLUSION: This is the first report associating the CCKAR gene variant with schizophrenia specifically in men. Our study strengthens the conclusion that a CCKAR dysfunction could be involved in the aetiology of schizophrenia.

M3 - Journal article

SN - 0001-690X

VL - 120

SP - 281

EP - 287

JO - Acta Psychiatrica Scandinavica

JF - Acta Psychiatrica Scandinavica

IS - 4

ER -

An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males

Abstract

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