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Comment on Study | View All Comments on Study |
Reference | Hamshere, M. L.,2009 PMID: 19567891 |
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Citation | Hamshere, M. L., E. K. Green, et al. (2009). Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. Br J Psychiatry 195(1): 23-29. |
Disease Type | Bipolar Disorder |
Study Design | case-control |
Study Type | Genome-wide association study |
Sample Size | 1868 individuals with bipolar disorder and 2938 controls |
SNP/Region/Marker Size | 276,122 SNPs |
Predominant Ethnicity | Caucasian |
Population | British |
Gender | females proportion:62% in patients,51% in controls |
Age Group | Adults |
Sample Diagnosis | RDC |
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Sample Status | Participants with bipolar disorder had experienced at least one episode of clinically significant elevated mood according to RDC: bipolar I disorder (n = 1316), schizoaffective disorder,bipolar type (n = 279), bipolar II disorder (n = 171) and manic disorder (n = 102). The diagnoses according to DSM-IV for the same set of participants were: bipolar I disorder (n = 1594), schizoaffective disorder, bipolar type (n = 98), bipolar II disorder (n = 134), bipolar disorder, not otherwise specified (n = 42).The controls, who were not screened for psychiatric illness, came from two sources: the UK 1958 birth cohort longitudinal epidemiological sample (n = 1458) and the UK Blood Donor Service (n = 1480). |
Technique | Affymetrix |
Statistical Method | Cochran-Armitage trend test of genotype distributions, |
Result Summary | RESULTS: The RDC schizoaffective disorder, bipolar type (v. controls) stood out from the other diagnostic subsets as having a significant excess of independent association signals (P<0.003) compared with that expected in samples of the same size selected randomly from the total bipolar disorder group data-set. The strongest association in this subset of participants with bipolar disorder was at rs4818065 (P = 2.42 x 10(-7)). Biological systems implicated included gamma amniobutyric acid (GABA)(A) receptors. Genes having at least one associated polymorphism at P<10(-4) included B3GALTS, A2BP1, GABRB1, AUTS2, BSN, PTPRG, GIRK2 and CDH12. CONCLUSIONS: Our findings show that individuals with broadly defined bipolar schizoaffective features have either a particularly strong genetic contribution or that, as a group, are genetically more homogeneous than the other phenotypes tested. The results point to the importance of using diagnostic approaches that recognise this group of individuals. Our approach can be applied to similar data-sets for other psychiatric and non-psychiatric phenotypes. |
SNP | Related Gene(s) | Allele Change | Risk Allele | Statistical Values | Author Comments | Result Category |
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rs1171115 | PRSS35 | lambda-corrected Cochran-Armitage trend test: P-value = 8.36E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs13154602 | ZBED3-AS1 | lambda-corrected Cochran-Armitage trend test: P-value = 2.99E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs4027132 | LPIN1 | lambda-corrected Cochran-Armitage trend test: P-value = 6.63E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs4279178 | GABRB1 ADM | lambda-corrected Cochran-Armitage trend test: P-value = 2.49E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs16942644 | ABHD2 | lambda-corrected Cochran-Armitage trend test: P-value = 1.38E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs2352974 | CAMKV TRAIP | lambda-corrected Cochran-Armitage trend test: P-value = 8.27E-07 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs7680321 | GABRB1 | lambda-corrected Cochran-Armitage trend test: P-value = 7.28E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs7990962 | FAM216B | lambda-corrected Cochran-Armitage trend test: P-value = 5.61E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs4786811 | RBFOX1 | lambda-corrected Cochran-Armitage trend test: P-value = 3.71E-06 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend | ||
rs4818065 | B3GALT5 | lambda-corrected Cochran-Armitage trend test: P-value = 2.32E-07 | one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
Gene | Statistical Values/Author Comments | Result Category |
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PRSS35 | the nearest gene of one independently associated SNP rs1171115 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs1171115 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
GABRB1 | the nearest gene of one independently associated SNP rs7680321 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs7680321 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
TRAIP | the nearest gene of one independently associated SNP rs2352974 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs2352974 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
B3GALT5 | the nearest gene of one independently associated SNP rs4818065 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs4818065 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
ABHD2 | the nearest gene of one independently associated SNP rs16942644 that exceed a significance threshold...... the nearest gene of one independently associated SNP rs16942644 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
FAM216B | the nearest gene of one independently associated SNP rs7990962 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs7990962 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
LPIN1 | the nearest gene of one independently associated SNP rs4027132 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs4027132 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
RBFOX1 | the nearest gene of one independently associated SNP rs4786811 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs4786811 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More... | Trend |
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
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Last update: March 31, 2016