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	Xu, C.,2012 PMID: 22920719
Citation	Xu, C., J. E. Mullersman, et al. (2012). "Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: Evidence of genexgender interaction." J Affect Disord.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	605 BD-I cases and 1396 controls
SNP/Region/Marker Size	118 SNPs
Predominant Ethnicity	Caucasian
Population	American

Detail Info

Sample Diagnosis	DSM
Sample Status	Available data from the Whole Genome Association Study of Bipolar Disorder,Study Accession:phs000017.v3.p1;available from the related Genome-Wide Associatio nStudy of Schizophrenia: Study Accession:phs000021.v2.p1.
Technique	Genotyping
Statistical Method	The logistic model in PLINKv1.07(Purcell et al.,2007) was used to test for genexgender interactions for the risk of BD-I as a binary trait,to detect associations with BD-I,and to obtain regression coefficients and Wald test a symptotic p-values fo rmale and female samples.P-values for tests of allelic association were conservatively corrected for multiple testing using the Bonferroni method.
Result Summary	16 SNPs showed significant gene x gender interactions influencing BD-I (P<0.01). In addition, significant differences in the distribution of the alleles for these 16 SNPs were observed between the female BD-I patients and healthy controls (P<0.015) but no significant associations were found for the male sample (P>0.05). The SNP rs4822691 showed the strongest association with BD-I in the female sample (P=2.18x10(-4)) and the strongest genexgender interaction in influencing BD-I (P=9.16x10(-5)). LIMITATIONS: The findings of this study need to be replicated in independent samples. CONCLUSIONS: This is the first demonstration that genetic variants in the SEZ6L gene are associated with BD-I in female patients and provides additional compelling evidence for genetic variation at 22q11-13 that influences BD-I risk. The present findings highlight the gene x gender interactions modifying BD-I susceptibility.

SNPs reported by this study for BD (count: 16)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2847316	SEZ6L		T	Gene-gender interaction:OR = 0.86,P-value = 0.0045;Male:OR = 1.01,P-value = 0.92;Female:OR = 0.76,P-value = 0.0026,P-value corrected = 0.042	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs2331245	SEZ6L		T	Gene-gender interaction:OR = 1.13,P-value = 0.0059;Male:OR = 1.23,P-value = 0.052;Female:OR = 0.67,P-value = 0.011,P-value corrected = 0.176	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs4822693	SEZ6L		T	Gene-gender interaction:OR = 0.81,P-value = 0.00016;Male:OR = 0.89,P-value = 0.36;Female:OR = 0.74,P-value = 0.0003,P-value corrected = 0.0048	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs4822691	SEZ6L		T	Gene-gender interaction:OR = 0.8,P-value = 0.000092;Male:OR = 0.87,P-value = 0.27;Female:OR = 0.62,P-value = 0.00022,P-value corrected = 0.0035	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs5761499	SEZ6L		G	Gene-gender interaction:OR = 0.88,P-value = 0.0011;Male:OR = 0.87,P-value = 0.17;Female:OR = 0.7,P-value = 0.004,P-value corrected = 0.064	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs4822697	SEZ6L		A	Gene-gender interaction:OR = 0.87,P-value = 0.0046;Male:OR = 0.9,P-value = 0.32;Female:OR = 0.77,P-value = 0.01,P-value corrected = 0.16	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs662329	SEZ6L		C	Gene-gender interaction:OR = 0.86,P-value = 0.0017;Male:OR = 0.96,P-value = 0.74;Female:OR = 1.29,P-value = 0.0018,P-value corrected = 0.029	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs5997055	SEZ6L		C	Gene-gender interaction:OR = 0.88,P-value = 0.0039;Male:OR = 0.98,P-value = 0.87;Female:OR = 0.75,P-value = 0.0032,P-value corrected = 0.051	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs12485236	SEZ6L		A	Gene-gender interaction:OR = 0.81,P-value = 0.00017;Male:OR = 0.88,P-value = 0.31;Female:OR = 0.63,P-value = 0.00033,P-value corrected = 0.005	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs16981987	SEZ6L		C	Gene-gender interaction:OR = 1.61,P-value = 0.0012;Male:OR = 1.56,P-value = 0.12;Female:OR = 2.58,P-value = 0.0031,P-value corrected = 0.049	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs16981495	SEZ6L		A	Gene-gender interaction:OR = 0.84,P-value = 0.0077;Male:OR = 1.1,P-value = 0.43;Female:OR = 0.62,P-value = 0.0013,P-value corrected = 0.021	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs17305959	SEZ6L		A	Gene-gender interaction:OR = 1.18,P-value = 0.00033;Male:OR = 1.21,P-value = 0.097;Female:OR = 1.47,P-value = 0.00028,P-value corrected = 0.0045	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs16981995	SEZ6L		A	Gene-gender interaction:OR = 1.68,P-value = 0.0041;Male:OR = 1.41,P-value = 0.32;Female:OR = 3.17,P-value = 0.004,P-value corrected = 0.064	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs2144350	SEZ6L		A	Gene-gender interaction:OR = 0.88,P-value = 0.0082;Male:OR = 0.91,P-value = 0.37;Female:OR = 0.72,P-value = 0.015,P-value corrected = 0.24	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs17306064	SEZ6L		C	Gene-gender interaction:OR = 1.18,P-value = 0.00046;Male:OR = 1.2,P-value = 0.11;Female:OR = 1.46,P-value = 0.00039,P-value corrected = 0.0062	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive
rs7511475	SEZ6L		T	Gene-gender interaction:OR = 0.81,P-value = 0.00012;Male:OR = 0.87,P-value = 0.28;Female:OR = 0.63,P-value = 0.00025,P-value corrected = 0.004	16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD...... 16 SNPsshowedsignificantgenexgenderinteractionsinfluencingBD-I(P<0.01). More...	Positive

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