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P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

Green, Elaine Karen, Grozeva, Detelina Valentinova, Raybould, Rachel, Elvidge, Gareth, Macgregor, Stuart, Craig, Ian, Farmer, Anne, McGuffin, Peter, Forty, Elizabeth, Jones, Lisa, Jones, Ian Richard, O'Donovan, Michael Conlon, Owen, Michael John, Kirov, George and Craddock, Nicholas John 2009. P2RX7: A bipolar and unipolar disorder candidate susceptibility gene? American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 150B (8) , pp. 1063-1069. 10.1002/ajmg.b.30931

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Abstract

The chromosomal region 12q24 has been previously implicated by linkage studies of both bipolar disorder and unipolar mood disorder and we have reported two pedigrees segregating both bipolar disorder and Darier's disease that show linkage across this region. The gene P2RX7 is located in this chromosomal region and has been recently reported as a susceptibility gene for bipolar disorder and unipolar depression. The non-synonymous SNP rs2230912 (resulting in amino-acid polymorphism Q460R) showed the strongest association and has been postulated to be pathogenically relevant. We have investigated this gene in a large UK case-control sample (bipolar I disorder N = 687, unipolar recurrent major depression N = 1,036, controls N = 1,204). Neither rs2230912 nor any of 8 other SNPs genotyped across P2RX7 was found to be associated with mood disorder in general, nor specifically with bipolar or unipolar disorder. Further, sequencing of our two chromosome 12-linked bipolar-Darier families showed no evidence of rare variants at P2RX7 that could explain the linkage. Our data do not provide support for rs2230912 or the other polymorphisms studied within the P2RX7 locus, being involved in susceptibility to mood disorders.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Uncontrolled Keywords: P2RX7; bipolar disorder; unipolar disorder; case–control study
Publisher: Wiley-Blackwell
ISSN: 1552-4841
Last Modified: 07 Nov 2017 02:31
URI: http://orca.cf.ac.uk/id/eprint/22122

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