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	Gonzalez SD, 2013 PMID: 23715300
Citation	Gonzalez, S. D., C. Xu, et al. (2013). "Family-based association of an ANK3 haplotype with bipolar disorder in Latino populations." Transl Psychiatry 3: e265.
Disease Type	bipolar disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	215 Latino pedigrees
SNP/Region/Marker Size	38 SNPs
Predominant Ethnicity
Population	Latino

Detail Info

Sample Diagnosis	DSM-IV
Sample Status	Inclusion criteria required a proband with a bipolar disorder type I (BPI) diagnosis with at least one sibling with a clinical diagnosis of BPI or schizoaffective bipolar disorder (SABP), and a minimum of two additional first-degree relatives willing to participate. Additional family members with a history of affective or psychotic disorders were included when possible. The sample consisted of 157 case-parent trios and 258 affected subjects with one parent genotyped. Of the 929 individuals in this study, 466 were diagnosed with BPI and 16 were diagnosed with SABP.
Technique	genotyped using a custom-designed Illumina GoldenGate SNP assay
Statistical Method	Analyses of individual SNPs and haplotypes were completed with the Family Based Association Test (FBAT) version 2.0.3,8 using an additive genetic model.
Result Summary	SNPs rs1380455 and rs3808943 were nominally associated with BP; however, the associations did not meet the Bonferroni threshold of significance. No other genotyped SNPs were in high LD with the rs9804190 risk allele and were therefore dropped from further analysis. Haplotype analyses were performed on the six-locus haploblock encompassing the rs10994336 BP risk variant. The TCCTTT haplotype showed an over-transmission in BP, which was statistically significant after permutation test with 10 000 simulations. Interestingly, the rs10994336 (T) BP risk allele was also present in the TCCTTT haplotype showing increased risk. The whole marker permutation test was also significant.

SNPs reported by this study for BD (count: 6)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs16914968	ANK3			FBAT P-value=0.1, Bonferroni-adjusted P-value=0.47, Z-score=1.643	No significant association was observed. No significant association was observed.	Negative
rs1380455	ANK3			FBAT P-value=0.035, Bonferroni-adjusted P-value=0.193, Z-score=2.108	SNPs rs1380455 and rs3808943 were nominally associated with ...... SNPs rs1380455 and rs3808943 were nominally associated with BP; however, the associations did not meet the Bonferroni threshold of significance. More...	Positive
rs3808942	ANK3			FBAT P-value=0.925, Bonferroni-adjusted P-value=1, Z-score=0.094	No significant association was observed. No significant association was observed.	Negative
rs1551684	ANK3			FBAT P-value=0.267, Bonferroni-adjusted P-value=0.844, Z-score=1.111	No significant association was observed. No significant association was observed.	Negative
rs10994336	ANK3			FBAT P-value=0.053, Bonferroni-adjusted P-value=0.276, Z-score=1.939	No significant association was observed. No significant association was observed.	Negative
rs3808943	ANK3			FBAT P-value=0.015, Bonferroni-adjusted P-value=0.087, Z-score=2.43	SNPs rs1380455 and rs3808943 were nominally associated with ...... SNPs rs1380455 and rs3808943 were nominally associated with BP; however, the associations did not meet the Bonferroni threshold of significance. More...	Positive

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336	T-T-C-T-C-C	ANK3	FBAT P-value=0.082, Permutation P-value=0.079, Z-score=1.737	No significant association was observed. No significant association was observed.	Negative
rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336	T-C-T-T-C-C	ANK3	FBAT P-value=0.436, Permutation P-value=0.396, Z-score=-0.778	No significant association was observed. No significant association was observed.	Negative
rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336	T-C-C-C-C-C	ANK3	FBAT P-value=0.572, Permutation P-value=0.552, Z-score=-0.565	No significant association was observed. No significant association was observed.	Negative
rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336	G-C-C-T-C-C	ANK3	FBAT P-value=0.116, Permutation P-value=0.126, Z-score=-1.572	No significant association was observed. No significant association was observed.	Negative
rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336	T-C-C-T-T-T	ANK3	FBAT P-value=0.023, Permutation P-value=0.035, Z-score=2.266	The TCCTTT haplotype showed an over-transmission in BP, whic...... The TCCTTT haplotype showed an over-transmission in BP, which was statistically significant after permutation test with 10 000 simulations. More...	Positive

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