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	Goldstein, I.,2009 PMID: 19058785
Citation	Goldstein, I., E. Lerer, et al. (2009). Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. Biol Psychiatry 65(11): 985-991.
Disease Type	Bipolar I Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	118 families,126 patients with BD(120 patients with BD-I,6 patients with BD-II)
SNP/Region/Marker Size	16 SNPs
Predominant Ethnicity
Population	Palestinian Arabs
Gender	male/female:73/53 in cases

Detail Info

Sample Diagnosis	DSM
Sample Status	Altogether, 126 subjects (Palestinian Arabs) with BD (73 men and 53 women) and their parents (88 mothers and 88 fathers) and unaffected siblings (19) were recruited. In total,118 families, out of which 22 families had two or more children diagnosed with BD, were included in the research group. Exclusion criteria included absence of both parents and non-Palestinian ancestry (two generations). All patients were interviewed by two experienced psychiatrists using the Structured Clinical Interview for DSM Disorders (SCID) interview and diagnosis as BD was assigned according to DSM-IV criteria.Cumulative years of illness were 7.2(SD=0.744) (1-28 years). The average number of hospitalizations was 4.9(SD=0.53) (1-24 episodes).
Technique	genotyping
Statistical Method	The multivariate family-based association test (MFBAT),the transmission disequilibrium test (TDT),the extended transmission disequilibrium test (ETDT) and Permutation test
Result Summary	Significant nominal association with BD was observed for six single SNPs (alpha1: rs11805078; alpha2: rs2070704, rs1016732, rs2854248, and rs2295623; alpha3: rs919390) in the three genes of Na+, K+-ATPase alpha isoforms. Haplotype analysis of the alpha2 isoform (ATP1A2 gene) showed a significant association with two loci haplotypes with BD (rs2295623: rs2070704; global p value = .0198, following a permutation test). CONCLUSIONS: This study demonstrates for the first time that genetic variations in Na+, K+-ATPase are associated with BD, suggesting a role of this enzyme in the etiology of this disease.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1016732	ATP1A2 ATP1A1	A/G		Single SNP association: additive model: FBAT P-value = 0.0393; dominant model: FBAT P-value = 0.006; recessive model: FBAT P-value = 0.0066	The SNP was significantly associated with BD in several mode...... The SNP was significantly associated with BD in several modes. More...	Positive
rs11805078	ATP1A1	C/T		Single SNP association: additive model: FBAT P-value = 0.0184	The SNP was significantly associated with BD only in the add...... The SNP was significantly associated with BD only in the additive mode. More...	Positive
rs2070704	ATP1A2	A/G		Single SNP association: additive model: FBAT P-value = 0.0236; dominant model: FBAT P value=0.0158; recessive model: FBAT P-value = 0.0158; heterozygote model: FBAT P-value = 0.022	The SNP was significantly associated with BD in several mode...... The SNP was significantly associated with BD in several modes. More...	Positive
rs2295623	ATP1A2	A/C		Single SNP association: dominant model: FBAT P-value = 0.0208; recessive model: FBAT P-value = 0.0208; heterozygote model: FBAT P-value = 0.0014	The SNP was significantly associated with BD in several mode...... The SNP was significantly associated with BD in several modes. More...	Positive
rs919390	ATP1A3	C/G		Single SNP association: additive model: FBAT P-value = 0.0163; dominant model: FBAT P-value = 0.0268; recessive model: FBAT P-value = 0.0268	The SNP was significantly associated with BD in several mode...... The SNP was significantly associated with BD in several modes. More...	Positive
rs2854248	ATP1A2 ATP1A1	A/T		Single SNP association: dominant model: FBAT P-value = 0.0110; recessive model: FBAT P-value = 0.0110; heterozygote model: FBAT P-value = 0.0031	The SNP was significantly associated with BD in several mode...... The SNP was significantly associated with BD in several modes. More...	Positive

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

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs2070704 - rs2295623		ATP1A2	multimarker association analysis:P-value = 0.0918 after Permutation test	This haplotype block in the ATP1A2 gene (rs2070704 -rs229562...... This haplotype block in the ATP1A2 gene (rs2070704 -rs2295623) was significantly associated with BD . More...	Positive

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

Gene	Statistical Values/Author Comments	Result Category
ATP1A2	In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in th...... In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in the three genes of isoforms of Na<sup>+</sup , K<sup>+</sup> -ATPase are associated with BD and suggest the role of this enzyme in the etiology of BD. More...	Positive
ATP1A3	In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in th...... In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in the three genes of isoforms of Na<sup>+</sup , K<sup>+</sup> -ATPase are associated with BD and suggest the role of this enzyme in the etiology of BD. More...	Positive
ATP1A1	In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in th...... In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in the three genes of isoforms of Na<sup>+</sup , K<sup>+</sup> -ATPase are associated with BD and suggest the role of this enzyme in the etiology of BD. More...	Positive