{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T18:15:37Z","timestamp":1776190537012,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,1,21]],"date-time":"2009-01-21T00:00:00Z","timestamp":1232496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2009,12,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 <jats:italic>P2RX7<\/jats:italic> is located in this chromosomal region and has been recently reported as a susceptibility gene for bipolar disorder and unipolar depression. The non\u2010synonymous SNP rs2230912 (resulting in amino\u2010acid polymorphism Q460R) showed the strongest association and has been postulated to be pathogenically relevant. We have investigated this gene in a large UK case\u2010control sample (bipolar I disorder N\u2009=\u2009687, unipolar recurrent major depression N\u2009=\u20091,036, controls N\u2009=\u20091,204). Neither rs2230912 nor any of 8 other SNPs genotyped across <jats:italic>P2RX7<\/jats:italic> was found to be associated with mood disorder in general, nor specifically with bipolar or unipolar disorder. Further, sequencing of our two chromosome 12\u2010linked bipolar\u2010Darier families showed no evidence of rare variants at <jats:italic>P2RX7<\/jats:italic> 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. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30931","type":"journal-article","created":{"date-parts":[[2009,1,21]],"date-time":"2009-01-21T18:16:52Z","timestamp":1232561812000},"page":"1063-1069","source":"Crossref","is-referenced-by-count":57,"title":["<i>P2RX7<\/i>: A bipolar and unipolar disorder candidate susceptibility gene?"],"prefix":"10.1002","volume":"150B","author":[{"given":"Elaine 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