BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Study Report

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Basic Info

Reference	Severino, G.,2009 PMID: 19267705
Citation	Severino, G., M. Manchia, et al. (2009). Association study in a Sardinian sample between bipolar disorder and the nuclear receptor REV-ERBalpha gene, a critical component of the circadian clock system. Bipolar Disord 11(2): 215-220.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	300 unrelated patients with BP [181 bipolar I disorder (BPI), 74 schizoaffective bipolar,manic type (SAM), and 45 bipolar II disorder(BPII)], and 300 healthy controls.
SNP/Region/Marker Size	14 SNPs
Predominant Ethnicity	Caucasian
Population	Sardinian
Gender	110 males and 190 females in BP patients,140 males and 160 females in control
Age Group	Adults : Mean age(SD)(year):42.9 (14.8) in cases and 42 (12) in controls

Detail Info

Sample Diagnosis	RDC
Sample Status	Patients were recruited at the outpatient unit (Lithium Clinic) of the Clinical Psychopharmacology Center of the Section of Clinical Pharmacology, Department of Neurosciences, University of Cagliari, Cagliari,Italy. Lifetime consensus diagnoses according to RDC criteria were obtained by trained clinical psychopharmacologists using data from a personal semistructured interview and a systematic review of patients medical records. Age at interview was defined as the age at which subjects were first interviewed by a clinician in our outpatient unit.AAO was defined as the age at the first reliably diagnosed hypo ? manic or depressive episode according to RDC criteria, using all available medical records.The control group was recruited from anonymous blood donors, directly screened for Sardinian ethnic origin and the absence of family or personal history of any major affective disorder. Information on age and sex was ascertained.
Technique	genotyping
Statistical Method	Deviation from the Hardy-Weinberg equilibrium was examined in cases and controls by the X² test,assuming a significance level of 0.01. Allelic and genotypic distributions in cases and controls were compared using the X² or Monte Carlo tests.Linkage disequilibrium (LD) between markers was estimated by the standardized Lewontin coefficient(D') and the squared correlation (X²), using Haploview version 4.0.Examination of haplotype association was performed using CHAPLIN software, which,applying a likelihood approach, allowed for multiplicative,dominant, and recessive modeling of specific haplotype features on disease risk.
Result Summary	RESULTS: In the case-control comparison, single marker analysis showed no association for any of the SNPs tested. Haplotype analysis showed a nominally significant association for two haplotypes of SNPs 1-2. Comparing the early- and later-onset groups, nominal association was found for SNP1. Haplotype analysis showed that one haplotype was nominally associated with the later-onset group. CONCLUSIONS: Our results, indicating a nominal association of the REV-ERBalpha gene with BP, suggest a possible role of REV-ERBalpha in the pathogenesis of BP. Further investigation of larger independent samples and different populations is warranted.

SNPs reported by this study for BD (count: 2)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs12941497	NR1D1	A/G		Alelle association: X²=0.40, P-value = 0.52; Genotype association: X²=3.96, P-value = 0.13	Genotype and allele frequency distributions did not differ s...... Genotype and allele frequency distributions did not differ significantly between cases and controls. More...	Negative
rs939347	NR1D1	A/G		Alelle association: X²=1.15, P-value = 0.28; Genotype association: X²=1.07, P-value = 0.30	Genotype and allele frequency distributions did not differ s...... Genotype and allele frequency distributions did not differ significantly between cases and controls. More...	Negative

Haplotypes reported by this study for BD (count: 3)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs12941497 - rs939347	G-G	NR1D1	haplotype:Individual P-value =0.04	Significant association was found. Significant association was found.	Positive
rs12941497 - rs939347	A-G	NR1D1	haplotype:Individual P-value =0.012	Significant association was found. Significant association was found.	Positive
rs12941497 - rs939347	A-A	NR1D1	haplotype:Individual P-value =0.531	No significant association was found . No significant association was found .	Negative

Genes reported by this study for BD (count: 1)