Study Report

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Basic Info

Reference	Lee, S. Y.,2010 PMID: 20577142
Citation	Lee, S. Y., S. L. Chen, et al. (2010). "The ALDH2 and DRD2/ANKK1 genes interacted in bipolar II but not bipolar I disorder." Pharmacogenet Genomics 20(8): 500-506.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	Seven hundred and fifty participants were recruited: 207 with bipolar I disorder, 277 with bipolar II disorder, and 266 healthy controls.
SNP/Region/Marker Size	2 variants
Predominant Ethnicity	Mongloid
Population	Chinese(Taiwan)
Gender	Male/female:96/111 in BD-I patients ,140/137 in BD-II patients and 210/56 in controls
Age Group	Adults : Mean age(SD)(year):33.67(11.67) in BD-I patients,32.25(11.21) in BD-II controls,36.07(9.80) in controls

Detail Info

Sample Diagnosis	DSM
Sample Status	BP-I and BP-II patients were recruited from outpatient and inpatient settings.The healthy control group consisted of 312 volunteers recruited from the community.All volunteers were free of major and minor mental illness (affective disorder, schizophrenia,anxiety disorder, personality disorder, and substance use disorders), and none had a family history of psychiatric disorder among their first-degree relatives.
Technique	genotyping
Statistical Method	One-way analysis of variance and Bonferroni post-hoc tests were used to analyze the mean age differences between BP-I patients, BP-II patients, and healthy controls. A X² test was used to analyze sex differences.All statistical analyses were performed using SPSS 16.0 for Windows (SPSS Inc.,Chicago, Illinois, USA).
Result Summary	RESULTS: No difference of genotype distribution or allele distribution was found in BPAD or UPAD. No statistically significant difference was observed for allele frequency and genotypes counts. In a genotype per genotype analysis in UPAD patients with a personal history of suicide attempt, the frequency of the C-C genotype (homozygosity for the short allele) was lower in UPAD patients (24%) than in control subjects (43%) (chi(2) = 4.67, p =.03). There was no difference in allele or genotype frequency between patients presenting violent suicidal behavior (n = 48) and their matched control subjects. CONCLUSIONS: We failed to detect an association between the A218C polymorphism of the TPH gene and BPAD and UPAD in a large European sample. Homozygosity for the short allele is significantly less frequent in a subgroup of UPAD patients with a history of suicide attempt than in control subjects.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1800497	ANKK1 DRD2			Genotype distributions: for BP-I, X²=0.639, P-value = 0.727; for BP-II, X²=5.482, P-value = 0.065.Logistic regression analysis: DRD2 Taq-I A1/A1, for BP-I, OR=0.635, 95%CI=0.278-1.448, P-value = 0.28; for BP-II, OR=0.471, 95%CI=0.214-1.035, P-value = 0.061; DRD2 Taq-I A1/A2, for BP-I, OR=0.876, 95%CI=0.466-1.644, P-value = 0.679; for BP-II, OR=1.304, 95%CI=0.755-2.252, P-value = 0.341	No significant association was observed in BD. No significant association was observed in BD.	Negative

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
ALDH2_1/2 - rs1800497	(ALDH2_11)-(DRD2 Taq-I A1/A2)	ALDH2 DRD2	Logistic regression analysis:for BP-I, OR=1.201, 95%CI=0.519-2.779, P-value = 0.669; for BP-II, OR=1.353, 95%CI=0.531-2.502, P-value = 0.719	No significant association was found . No significant association was found .	Negative
ALDH2_1/2 - rs1800497	(ALDH2_11)-(DRD2Taq-I A1/A1)	ALDH2 DRD2	Logistic regression analysis:for BP-I, OR=2.043, 95%CI=0.622-6.710, P-value = 0.239; for BP-II, OR=4.534, 95%CI=1.455-14.129, P-value = 0.009	Significant association was found in BD-II. Significant association was found in BD-II.	Positive

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
ALDH2 1/2	ALDH2	point mutation	1/2		Genotype distributions:for BP-I, X²=5.697, P-value = 0.017;for BP-II, X²=0.4, P-value = 0.842.Logistic regression analysis:ALDH2_1/1, for BP-I, OR=1.28, 95%CI=0.709-2.310, P-value = 0.413;for BP-II, OR=0.742, 95%CI=0.420-1.309, P-value = 0.302	Significant associations were found in BP-I. Significant associations were found in BP-I.	Positive

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

Gene	Statistical Values/Author Comments	Result Category
ALDH2	Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific s...... Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders. Our findings also suggest a unique genetic distinction between bipolar I and bipolar II disorders. More...	Positive
DRD2	Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific s...... Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders. Our findings also suggest a unique genetic distinction between bipolar I and bipolar II disorders. More...	Positive

Gene-gene interactions reported by this study for BD (count: 1)

Gene Group	Markers	Statistical Values	Author Comments	Result Category
ALDH2 DRD2	ALDH2_1/2 - rs1800497	Logistic regression analysis: For haplotype "(ALDH2_11) - (DRD2Taq-I A1/A1)", for BP-I, OR = 2.043, 95%CI = [0.622-6.710], P-value = 0.239; for BP-II, OR = 4.534, 95%CI = [1.455-14.129], P-value = 0.009; For haplotype" (ALDH2_11) - (DRD2 Taq-I A1/A2)", for BP-I, OR = 1.201, 95%CI = [0.519-2.779], P-value = 0.669; for BP-II, OR = 1.353, 95%CI = [0.531-2.502], P-value = 0.719.	Significant association was found in BD-II. Significant association was found in BD-II.	Positive