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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Basic Info

Reference	Zhang, J.,2009 PMID: 19194776
Citation	Zhang, J., X. Li, et al. (2009). Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population. J Neural Transm 116(3): 357-361.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	506 unrelated bipolar patients and 507 unrelated controls
SNP/Region/Marker Size	6 SNPs
Predominant Ethnicity	Mongloid
Population	Chinese
Gender	284 male and 222 female in bipolar patients,287 male and 220 female in controls
Age Group	Adults : Mean age(SD)(year):37.8 (11.4) in cases and 36.4 (8.7) in controls

Detail Info

Sample Diagnosis	DSM
Sample Status	In total, 506 unrelated bipolar patients (male 284, female 222, age 37.8 (SD= 11.4) years, age of onset 26.7(SD=10.6) years) and 507 unrelated controls (male 287, female 220, age 36.4 (SD=8.7) years) were recruited. All the subjects were from Anhui and were of Han origin. Among the 506 bipolar patients, 419 (82.8%) were diagnosed as type I Bipolar.DSM-IV was used as the diagnostic criterion. Two independent psychiatrists made a final diagnosis on the basis of interview data and hospital case notes. All participating subjects signed an informed consent.
Technique	genotyping
Statistical Method	Hardy-Weinberg equilibrium, genotypic association, and odds ratio were calculated on http://202.120.31.177/myanalysis.php (Shi and He 2005), a user-friendly platform with integrated analysis tools particularly suited to association studies. Allele distribution and linkage disequilibrium were analyzed using Haploview 4.0RC1 (Barrett et al. 2005). Haplotype frequencies were calculated initially on UNPHASED (Dudbridge 2003) using all window sizes and all marker combinations. Then, the p value of the positive haplotype was corrected using the 10,000 permutations on UNPHASED or on Haploview 4.0RC1.
Result Summary	The haplotype consisting of rs6506640 (-342G > A) and rs906807 (86C > T) was found to be associated with bipolar disorder (global p = 0.012 before corrected, p = 0.030 after 10,000 permutations; individual p (A-T of rs6506640-rs906807) = 0.014 after 100,000 permutations (p = 0.0065 before corrected). The genotype frequency of rs906807 differed between bipolar female patients and female controls (p = 0.012, uncorrected). No other individual associations of SNPs with bipolar were detected. Our study indicated that the regions spanning from the promoter to the exon 2 may contain susceptible polymorphisms which predispose to bipolar disorder.

SNPs reported by this study for BD (count: 5)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs4148965	NDUFV2	G/T	T	Allelic association: Odds ratio=0.971, P-value = 0.887; Genotypic association: P-value = 0.143	No significant association was observed No significant association was observed	Negative
rs1156044	NDUFV2	A/G	G	Allelic association: Odds ratio=0.908, P-value = 0.399; Genotypic association: P-value = 0.489	No significant association was observed No significant association was observed	Negative
rs906807	NDUFV2	C/T	C	Allelic association: Odds ratio=1.071, P-value = 0.553; Genotypic association: P-value = 0.255	No significant association was observed No significant association was observed	Negative
rs6506640	NDUFV2	A/G	A	Allelic association: Odds ratio=1.008, P-value = 0.77; Genotypic association: P-value = 0.668	No significant association was observed No significant association was observed	Negative
rs977581	NDUFV2	G/T	G	Allelic association: Odds ratio=1.019, P-value = 0.899; Genotypic association: P-value = 0.463	No significant association was observed No significant association was observed	Negative

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs6506640 - rs906807	A-T	NDUFV2	Haplotypic association:Global P-value = 0.012, Global P-value(permutation)=0.03, Individual P-value = 0.0065, Individual P-value(permutation)=0.014	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs6506640 - rs906807	G-T	NDUFV2	Haplotypic association:Global P-value = 0.012, Global P-value(permutation)=0.03, Individual P-value = 1.000	Significant association was found in global P-value. Significant association was found in global P-value.	Positive
rs6506640 - rs906807	A-C	NDUFV2	Haplotypic association:Global P-value = 0.012, Global P-value(permutation)=0.03, Individual P-value = 0.625	Significant association was found in global P-value. Significant association was found in global P-value.	Positive

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