Study Report

Reference	Soronen, P.,2011 PMID: 21438144
Citation	Soronen, P., O. Mantere, et al. (2011). "P2RX7 gene is associated consistently with mood disorders and predicts clinical outcome in three clinical cohorts." Am J Med Genet B Neuropsychiatr Genet 156B(4): 435-447.
Disease Type	Bipolar Disorder & Major Depressive Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	178 BD and 272 MDD patients,1322 controls
SNP/Region/Marker Size	11 polymorphisms
Predominant Ethnicity	Caucasian
Population	Finnish

Sample Diagnosis	DSM
Sample Status	The study sample was gathered from three separate but comparable clinical cohorts collected from psychiatric in- and out-patients from the metropolitan area of southern Finland (Table II). The detailed methodology and clinical findings of the Jorvi Bipolar Study (JoBS) [Mantere et al., 2004; Mantere et al., 2008], the Vantaa Depression Study (VDS) [Melartin et al., 2002; Holma et al., 2008], and the Vantaa Primary Care Depression Study (PC-VDS) [Vuorilehto et al., 2005; Vuorilehto et al., 2009] have been reported elsewhere. All clinical cohorts have been collected in collaboration with the Mood Disorder Research Unit of the Department of Mental Health and Alcohol Research at the National Public Health Institute (at present the National Institute for Health and Welfare), Helsinki, Finland. In all studies, patient samplingwas based on screening: for BD (JoBS), MDD (VDS), and depressive disorders (PC-VDS). The cohorts were effectively collected from districts that provide secondary care psychiatric services for psychiatric patients (JoBS and VDS) or primary care (PC-VDS). The Ethics Committees of Helsinki University Central Hospital and the National Public Health Institute approved the study protocols in 1996 (VDS) and 2001 (JoBS and PC-VDS), and this investigation in 2002.
Technique	genotyping
Statistical Method	Allelic association analyses were performed by PLINKv1.06
Result Summary	The P2RX7 gene variants rs208294 and rs2230912 significantly elevated the risk for a familial mood disorder (OR_=_1.35, P_=_0.0013, permuted P_=_0.06, and OR_=_1.44, P_=_0.0031, permuted P_=_0.17, respectively). The results were consistent in all three cohorts. The same risk alleles predicted more time ill in all cohorts (OR 1.3, 95% CI 1.1-1.6, P_=_0.0069 and OR 1.7, 95% CI 1.3-2.3, P_=_0.0002 with rs208294 and rs2230912, respectively), so that homozygous carriers spent 12 and 24% more time ill. P2RX7 and its risk alleles predisposed to mood disorders consistently in three independent clinical cohorts. The same risk alleles resulted in clinically significant differences in outcome of patients with major depressive and bipolar disorder.