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	Mansour, H. A.,2005 PMID: 16338761
Citation	Mansour, H. A., M. E. Talkowski, et al. (2005). Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter. Ann Med 37(8): 590-602.
Disease Type	Bipolar I Disorder
Study Design	case-control and family-based
Study Type	Candidate-gene association study
Sample Size	The first sample:135 US Caucasian nuclear families having a proband with bipolar I disorder and available parents. For case-control analyses, the patients from these families were compared with cord blood samples from local Caucasian live births(n=182). Our second, independent sample was recruited through the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD, 545 cases, 548 controls).
SNP/Region/Marker Size	2 polymorphisms
Predominant Ethnicity	Caucasian
Population	American(in Pittsburgh) and STEP-BD collections

Detail Info

Sample Diagnosis	DSM
Sample Status	Pittsburgh sample:Probands with bipolar I disorder (DSM IV Criteria),and available parents were included.The parents provided blood samples, but detailed diagnostic interviews were not conducted.Unscreened controls. Cord blood samples were obtained from live births at Magee-Women's Hospital, Pittsburgh and served as unscreened,population-based controls. No information apart from ethnicity was available for these samples.STEP-BD sample:Patients. We obtained genomic DNA samples from patients with a baseline diagnosis of bipolar I disorder (DSM IV criteria) recruited through the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD). This is a longitudinal study aimed at improving treatment for Bipolar Disorder. STEP-BD used a network of eighteen U.S. treatment centers for standardized evaluation and treatment of patients including interview schedules based on the Structured Clinical Interview for DSM-IV (SCID), as well as the Mini-International Neuropsychiatric Interview(MINI).Unscreened controls. Control samples were not collected as part of the STEP-BD cohort. For comparison with the STEP-BD cases, additional cord blood samples were obtained from Pittsburgh, independent of the unscreened 'Pittsburgh' samples described above.All participants reported Caucasian ethnicity (maternal report for neonatal samples).
Technique	genotyping
Statistical Method	The software program GENEHUNTER (GH) was used for TDT analysis. For family-based association analyses, we used the 'uncertain haplotypes' option in the TDTPHASE program to analyze SNP based and haplotype based data (software package UNPHASED). For case-control comparisons,we utilized the Armitage trends test to evaluate genotype frequency differences between our cases and unrelated controls.
Result Summary	No significant associations were detected at the individual polymorphism or haplotype level using the case-control or family-based analyses. Our analyses do not support association between SLC6A4 and BDI families. Further studies using sub-groups of BDI are worthwhile.

SNPs reported by this study for BD (count: 11)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs140701	SLC6A4	C/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.668; TDT T/NT=28/28; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.668; TDT T/NT=28/28	No significant association was observed. No significant association was observed.	Negative
rs2020935	SLC6A4	A/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.34; TDT T/NT= 5/5; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.34; TDT T/NT= 5/5	No significant association was observed. No significant association was observed.	Negative
rs2020934	SLC6A4	C/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.541; TDT T/NT=16/26; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 541; TDT T/NT=16/26	No significant association was observed. No significant association was observed.	Negative
rs2020933	SLC6A4	A/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.954; TDT T/NT= 4/4; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.954; TDT T/NT= 4/4	No significant association was observed. No significant association was observed.	Negative
rs2020930	SLC6A4	G/A		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.658; TDT T/NT= 4/3; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.658; TDT T/NT= 4/3	No significant association was observed. No significant association was observed.	Negative
rs25532	SLC6A4	C/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.483; TDT T/NT= 11/11	No significant association was observed. No significant association was observed.	Negative
rs6354	SLC6A4	G/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.839; TDT T/NT=16/17; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.839; TDT T/NT=16/17	No significant association was observed. No significant association was observed.	Negative
rs2020937	SLC6A4	A/T		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.64; TDT T/NT=26/25; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.64; TDT T/NT=26/25	No significant association was observed. No significant association was observed.	Negative
rs2020939	SLC6A4	G/A		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.91; TDT T/NT=29/28; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.91; TDT T/NT=29/28	No significant association was observed. No significant association was observed.	Negative
rs2020942	SLC6A4	G/A		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.586; TDT T/NT=25/26; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.586; TDT T/NT=25/26	No significant association was observed. No significant association was observed.	Negative
rs2066713	SLC6A4	G/A		Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.539; TDT T/NT=25/26; STEP-BD sample: trends test for case-control analysis, P-value = Pittsburgh BD1 sample: trends test for case-control analysis, P-value = 0.539; TDT T/NT=25/26	No significant association was observed. No significant association was observed.	Negative

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
5HTTLPR	SLC6A4	microsatellite	L/S		Pittsburgh BD1 sample:trends test for case-control analysis, P-value = 0.884;TDT T/NT=18/24;STEP-BD sample:trends test for case-control analysis, P-value = Pittsburgh BD1 sample:trends test for case-control analysis, P-value = 0.884;TDT T/NT=18/24	No significant association was observed. No significant association was observed.	Negative

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