BDgene

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

Search Gene with Disease Search Gene1 with Disease

Study Report

Comment on Study

View All Comments on Study

Basic Info

Reference	Goes, F. S., 2010 PMID: 19691043
Citation	Goes, F. S., V. L. Willour, et al. (2010). "Sex-specific association of the Reelin gene with bipolar disorder." Am J Med Genet B Neuropsychiatr Genet 153B(2): 549-553.
Disease Type	Bipolar Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	1188 individuals from 318 nuclear families, including 554 affected offspring.
SNP/Region/Marker Size	75 tagSNPs and 6 coding SNPs
Predominant Ethnicity
Population	American
Gender	335 affected females (60.5%) and 219 affected males (39.5%)

Detail Info

Sample Diagnosis	DSM-IV or Research Diagnostic Criteria
Sample Status	We selected nuclear families with affected offspring from three BP family studies: the Chicago, Hopkins, National Institute of Mental Health (NIMH) Intramural Program study; the Clinical Neurogenetics study; and the NIMH Genetics Initiative Bipolar Disorder Collaborative study. All subjects signed IRB approved informed consent forms prior to enrolling. Affected offspring (237 quads and 80 trios) were diagnosed with bipolar I disorder (N=489), schizoaffective disorder, bipolar type (N=26), and bipolar II disorder (N=39)
Technique	genotyping with Illumina BeadArray platform; genotyping rs7341475 using an ABI 7900HT and a TaqMan assay
Statistical Method	Quality control measures, transmission-disequilibrium tests (TDTs), and empirical simulations were performed in PLINK. TDT in STATA 9.2 with sex as a covariate were used. Likelihood ratio tests (LRTs) were used to test whether the model including the interaction term provided a betterfit to the data than a model without the interaction term. Using the Genetic Power Calculator for power calculations.
Result Summary	We found a significant overtransmission of the C allele of rs362719 to BP offspring (OR=1.47, P=5.9E-4); this withstood empirical correction for testing of multiple markers (empirical P=0.048). The association with rs362719 was almost entirely accounted for by overtransmission of the putative risk allele to affected females (OR_Female=1.79, P=8.9E-5 vs. OR_Male=1.12, P=0.63).

SNPs reported by this study for BD (count: 7)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2249372	RELN		A	TDT test: P-value = 0.039 OR=1.22[1.01-1.48] for all samples, P-value = 0.014 OR=1.36[1.06-1.73] for females, P-value = 0.82 OR=1.04[0.77-1.40] for males.	nominal significant, but not significant after empirical cor...... nominal significant, but not significant after empirical correction for testing of multiple markers. More...	Positive
rs362642	RELN		T	TDT test: P-value = 0.048 OR=1.19[1.00-1.41] for all samples, P-value = 0.009 OR=1.35[1.08-1.68] for females, P-value = 0.94 OR=0.99[0.75-1.30] for males.	nominal significant, but not significant after empirical cor...... nominal significant, but not significant after empirical correction for testing of multiple markers. More...	Positive
rs362719	RELN		C	TDT test: P-value = 5.95E-4 OR=1.47[1.18-1.82] for all samples, P-value = 8.95E-5 OR=1.79[1.33-2.44] for females, P-value = 0.49 OR=1.12[0.80-1.59] for males.	nominal significant and association remained significant aft...... nominal significant and association remained significant after empirical correction for testing of multiple markers; the strongest evidence of transmission distortion continued to be in affected females. More...	Positive
rs362726	RELN		T	TDT test: P-value = 0.040 OR=1.22[1.01-1.45] for all samples, P-value = 0.098 OR=1.22[0.96-1.54] for females, P-value = 0.22 OR=1.20[0.89-1.64] for males.	nominal significant, but not significant after empirical cor...... nominal significant, but not significant after empirical correction for testing of multiple markers. More...	Positive
rs17281921	RELN		G	TDT test: P-value = 0.030 OR=1.30[1.02-1.64] for all samples, P-value = 0.22 OR=1.14[0.89-1.64] for females, P-value = 0.052 OR=1.42[0.99-2.08] for males.	nominal significant, but not significant after empirical cor...... nominal significant, but not significant after empirical correction for testing of multiple markers. More...	Positive
rs362814	RELN		T	TDT test: P-value = 0.032 OR=1.24[1.02-1.51] for all samples, P-value = 0.025 OR=1.34[1.04-1.72] for females, P-value = 0.52 OR=1.11[0.81-1.51] for males.	nominal significant, but not significant after empirical cor...... nominal significant, but not significant after empirical correction for testing of multiple markers. More...	Positive
rs7341475	RELN			TDT test: P-value = 0.38 for all samples and P-value = 0.46 for female-stratified sample.	no evidence for transmission disequilibrium for rs7341475 no evidence for transmission disequilibrium for rs7341475	Negative

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