Study Report

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Basic Info

Reference	Crisafulli, C.,2012 PMID: 22386572
Citation	Crisafulli, C., D. S. Shim, et al. (2012). "Case-control association study of 14 variants of CREB1, CREBBP and CREM on diagnosis and treatment outcome in major depressive disorder and bipolar disorder." Psychiatry Res.
Disease Type	Bipolar Disorder & Major Depressive Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	145 MDD patients,132 BD patients and 170 healthy controls
SNP/Region/Marker Size	14 SNPs
Predominant Ethnicity	Mongloid
Population	Korean
Gender	52% males for MDD patients,66% males for BD patients and 62% males for controls
Age Group	Adults : Mean age(SD)(year):41.37(14.07) for MDD patients,36.35(11.60) for BD patients and 38.83(12.80) for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	The sample under investigation in the present study comprised 145 in-patients suffering from MDD and 132 in-patients with BD during an acute manic episode who were consecutively recruited at the Department of Psychiatry of the Catholic University of Korea College of Medicine, Seoul, Korea. Patients were eligible for inclusion if they had a documented clinical diagnosis of MDD or BD according to the DSM-IV criteria, as assessed by the Mini-International Neuropsychiatric Interview (M.I.N.I.) (Sheehan et al., 1998).A further sample of 170 Korean psychiatrically healthy subjects, who underwent the same assessment of psychiatric patients to exclude possible psychiatric disorders and who derived from the same location of the psychiatric patients included in the present study, was also included to compare genotype and allelic frequencies among the three populations of subjects under investigation.
Technique	Genotyping
Statistical Method	X² statistics
Result Summary	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD. However, taking into account the several limitations of our study, further research is needed to draw more definitive conclusions.

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 13)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs1148247	CREM	A/G	Association analysis: genotype P-value = 0.52, chi square=3.23; allele P-value = 0.68, chi square=0.77	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs12775799	CREM	C/T	Association analysis: genotype P-value = 0.11, chi square=10.47; allele P-value = 0.05, chi square=6.15	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs3025702	CREBBP	A/G	Association analysis: genotype P-value = 0.5, chi square=3.33; allele P-value = 0.46, chi square=1.53	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs4934735	CREM	A/G	Association analysis: genotype P-value = 0.11, chi square=7.57; allele P-value = 0.06, chi square=5.7	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs2239316	CREBBP	A/G	Association analysis: genotype P-value = 0.34, chi square=4.56; allele P-value = 0.2, chi square=3.18	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs2239317	CREBBP	C/G	Association analysis: genotype P-value = 0.81, chi square=2.95; allele P-value = 0.64, chi square=0.9	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs130021	CREBBP	A/G	Association analysis: genotype P-value = 0.34, chi square=4.55; allele P-value = 0.62, chi square=0.95	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs16935888	CREM	C/T	Association analysis: genotype P-value = 0.38, chi square=4.19; allele P-value = 0.16, chi square=3.66	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs129974	CREBBP	G/T	Association analysis: genotype P-value = 0.73, chi square=2.03; allele P-value = 0.83, chi square=0.36	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs130005	CREBBP	A/G	Association analysis: genotype P-value = 0.75, chi square=1.95; allele P-value = 0.63, chi square=0.92	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs9392	CREBBP	A/G	Association analysis: genotype P-value = 0.55, chi square=3.02; allele P-value = 0.36, chi square=2.06	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs6740584	CREB1	C/T	Association analysis: genotype P-value = 0.89, chi square=1.15; allele P-value = 0.64, chi square=0.88	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs6481941	CREM	A/G	Association analysis: genotype P-value = 0.24, chi square=7.95; allele P-value = 0.09, chi square=4.84	No significant association was observed in BD. No significant association was observed in BD.	Negative

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

Gene	Statistical Values/Author Comments	Result Category
CREBBP	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, ...... We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD. More...	Negative
CREM	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, ...... We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD. More...	Negative
CREB1	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, ...... We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD. More...	Negative

Genetic factors reported by this study for SZ and/or MDD

SNPs reported by this study for SZ/MDD

Disease	SNP	Related Gene(s)	Statistical Values	Description	Result Category
MDD	rs130021	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs16935888	CREM	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs129974	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs130005	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs3025702	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs4934735	CREM	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs2239316	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs2239317	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs9392	CREBBP	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs6481941	CREM	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs6740584	CREB1	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs12775799	CREM	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative
MDD	rs1148247	CREM	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
MDD	CREM	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD.	Negative
MDD	CREB1	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD.	Negative
MDD	CREBBP	We failed to observe any association of the 14 SNPs genotypes or alleles with clinical improvement, response and remission rates as well as final outcomes in any of such disorders. Our findings suggest that 14 SNPs under investigation in our study do not influence diagnosis and treatment response in patients with MDD and BD.	Negative