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	Nyegaard, M.,2002 PMID: 12192619
Citation	Nyegaard, M., A. D. Borglum, et al. (2002). "Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder." Mol Psychiatry 7(7): 745-754.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	80 cases and 144 control subjects
SNP/Region/Marker Size	11 variants
Predominant Ethnicity	Caucasian
Population	Danish and British

Detail Info

Sample Diagnosis	DSM
Sample Status	The Danish patients were recruited from the Psychiatric Hospital in Aarhus. All cases were diagnosed as bipolar 1 according to DSM-IV.The 144 Danish control individuals were blood donors assigned through the blood bank in Odense.The British patients were recruited from three Lithium therapy clinics at the Institute of Psychiatry, London,Epsom General Hospital and Northern General Hospital,Sheffield.Control subjects were Caucasian volunteers from UK recruited from general practices and were screened with a brief semi-structured interview to ascertain the absence of psychiatric illness.
Replication Size	55 cases and 88 control subjects
Technique	PCR and sequencing
Statistical Method	Chi-square statistics were used to test the null hypothesis of no difference in the allele frequency for patients and controls.Fishers exact test was applied, and the twosided P-values were calculated using the program 2BY2 v.1.50.For interesting two-locus (SNP6-SNP11) haplotype, CLUMP v.1.6 was used to estimate significance.
Result Summary	For the Danish population, association was suggested between silent SNP G573A and BPAD (P = 0.008). For the British population we found association to BPAD with missense mutation Leu48Met (P = 0.003) and missense mutation Pro335Leu (P = 0.004). The statistical significance of the association was, however, greatly reduced after correcting for multiple testing. When combining genotypes from Leu48Met and Pro335Leu into haplotypes, association to BPAD was found in the British population (P = 0.0007). This haplotype association was not replicated in the Danish population. Our results may indicate that the SSTR5 gene is involved in the etiology of BPAD or may exist in linkage disequilibrium with a susceptibility gene close to SSTR5. However, given the marginal statistical significance and the potential for false-positive results in association studies with candidate genes, further studies are needed to clarify this hypothesis.

Other variants reported by this study for BD (count: 11)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
SSTR5 A-1665G	SSTR5	point mutation	A-1665G		Association analysis:P-value = 0.1 for Danish sample;P-value = 0.1 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 C155T	SSTR5	point mutation	C155T		Association analysis:P-value = 0.71 for Danish sample;P-value = 0.1 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 -2134delT	SSTR5	insertion/deletion	-2134delT/wt		Association analysis:P-value = 0.27 for Danish sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 C-801G	SSTR5	point mutation	C-801G		Association analysis:P-value = 0.75 for Danish sample;P-value = 0.38 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 T-2187G	SSTR5	point mutation	T-2187G		Association analysis:P-value = 0.29 for Danish sample;P-value = 0.12 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 C325T	SSTR5	point mutation	C325T		Association analysis:P-value = 0.4 for Danish sample;P-value = 0.19 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 C633T	SSTR5	point mutation	C633T		Association analysis:P-value = 0.74 for Danish sample;P-value = 0.51 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 C1004T	SSTR5	point mutation	C1004T		Association analysis:P-value = 0.86 for Danish sample;P-value = 0.004 for UK sample.	Significant associations were found in UK sample. Significant associations were found in UK sample.	Positive
SSTR5 C142A	SSTR5	point mutation	C142A		Association analysis:P-value = 0.31 for Danish sample;P-value = 0.003 for UK sample.	Significant associations were found in UK sample. Significant associations were found in UK sample.	Positive
SSTR5 T-461C	SSTR5	point mutation	T-461C		Association analysis:P-value = 0.37 for Danish sample;P-value = 0.23 for UK sample.	No significant association was observed in BD. No significant association was observed in BD.	Negative
SSTR5 G573A	SSTR5	point mutation	G573A		Association analysis:P-value = 0.008 for Danish sample;P-value = 0.67 for UK sample.	Significant associations were found in Danish sample. Significant associations were found in Danish sample.	Positive

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