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	Chen, S., 2014 PMID: 25152196
Citation	Chen, S., et al. (2014). "Association study of TPH2 polymorphisms and bipolar disorder in the Han Chinese population." Prog Neuropsychopharmacol Biol Psychiatry 56C: 97-100.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	506 bipolar patients and 507 healthy controls
SNP/Region/Marker Size	6 SNPs
Predominant Ethnicity	Mongloid
Population	Chinese
Gender	cases: 284 males and 222 females; controls: 287 males and 220 females
Age Group	adult : cases: mean=37.8, SD=11.4; controls: mean=36.4, SD=8.7.

Detail Info

Sample Diagnosis	DSM-IV
Sample Status	All the patients were diagnosed according to the DSM-IV criteria. The final diagnosis on every patient was made by two independent psychiatrists on the basis of interview data and hospital case notes. There are 419 bipolar I disorders, 83 Bipolar II disorders and 4 Cyclothymic disorders.
Technique	Genotyped using TaqManÂ® technology
Statistical Method	SHEsis was used to analyze Hardy-Weinberg equilibrium, allelic and genotypic distributions and pairwise linkage disequilibrium (LD). Linkage disequilibrium of all pairs of SNPs was estimated with D' according to the standardized measurement. Haplotype distribution was initially performed on Haploview 4.0RC1 and further analysis was carried out on SHEsis. For all analyses, p values were two tailed and the significance level was set at p<0.05.
Result Summary	rs10784941 was not in the Hardy-Weinberg equilibriumand therefore excluded from further analysis. rs1386486 and rs1872824 showed statistically significant differences between cases and controls in genotype frequencies (rs1386486: P-value=0.043351; rs1872824: P-value=0.016563), but no association in allele frequencies. Strong LD was found among rs1386494, rs2171363 and rs4760816, but no positive association with BPD was found for haplotypes.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2171363	TPH2	C/T		Allele frequency: P-value=0.827183, Permutated P-value=0.9995; Genotype frequency: P-value=0.212909, H-W P-value=0.551496(case), H-W P-value=0.061565(control).	No significant associations were observed. No significant associations were observed.	Negative
rs4760816	TPH2	A/G		Allele frequency: P-value=0.357523, Permutated P-value=0.8082; Genotype frequency: P-value=0.438200, H-W P-value=0.625436(case), H-W P-value=0.439436(control).	No significant associations were observed. No significant associations were observed.	Negative
rs1386494	TPH2	A/G		Allele frequency: P-value=0.277428, Permutated P-value=0.6982; Genotype frequency: P-value=0.440348, H-W P-value=0.603372(case), H-W P-value=0.643185(control).	No significant associations were observed. No significant associations were observed.	Negative
rs1386486	TPH2	C/T		Allele frequency: P-value=0.201646, Permutated P-value=0.5609; Genotype frequency: P-value=0.04335, H-W P-value=0.041142(case), H-W P-value=0.303095(control).	Rs1386486 showed statistically marginal differences between ...... Rs1386486 showed statistically marginal differences between cases and controls in genotype frequencies (P-value=0.043351), but no significant differences in allele distribution. More...	Positive
rs1872824	TPH2	A/G		Allele frequency: P-value=0.053764, Permutated P-value=0.1891; Genotype frequency: P-value=0.01656, H-W P-value=0.201857(case), H-W P-value=0.086564(control).	Rs1872824 showed statistically marginal differences between ...... Rs1872824 showed statistically marginal differences between cases and controls in genotype frequencies (P-value=0.016563), but no significant differences in allele distribution. More...	Positive

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs1386494 - rs2171363 - rs4760816	C-A-C	TPH2	Global P-value=0.706, Chi²=0.001, P-value=0.973735.	No significant association between this block and BD was obs...... No significant association between this block and BD was observed. More...	Negative
rs1386494 - rs2171363 - rs4760816	C-G-T	TPH2	Global P-value=0.706, Chi²=0.134, P-value=0.713896.	No significant association between this block and BD was obs...... No significant association between this block and BD was observed. More...	Negative
rs1386494 - rs2171363 - rs4760816	T-A-C	TPH2	Global P-value=0.706, Chi²=0.666, P-value=0.414522.	No significant association between this block and BD was obs...... No significant association between this block and BD was observed. More...	Negative

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