Study Report

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Basic Info

Reference	Alaerts, M.,2009 PMID: 18792946
Citation	Alaerts, M., S. Ceulemans, et al. (2009). Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population. Am J Med Genet B Neuropsychiatr Genet 150B(4): 585-592.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	254 unrelated BPI patients and 364 control individuals
SNP/Region/Marker Size	28 polymorphisms
Predominant Ethnicity	Caucasian
Population	Northern Swedish

Detail Info

Sample Diagnosis	DSM
Sample Status	Samples were recruited from the Vasterbotten region in Northern Sweden and no population substructure was observed by analyzing 37 STR-markers with STRUCTURE.Diagnoses were made according to the DSM-IV criteria [American Psychiatry Association, 1994].
Technique	genotyping
Statistical Method	LD-measures were calculated using Haploview(http://www.broad.mit.edu/mpg/haploview) with the CEU population as reference.GENEPOP v3.3 (http://wbiomed.curtin.edu.au/genepop) was used to calculate Hardy-Weinberg equilibrium and investigate allelic and genotypic single marker association. Haplotype frequencies and associations were calculated using Haplo Stats v1.2.1 (http://mayoresearch.mayo.edu/mayo/research/biostat/schaid.cfm).
Result Summary	This analysis consisted of a HapMap LD-based association study including three widely investigated polymorphisms (5-HTTVNTR, 5-HTTLPR, and rs3813034), a copy-number variation (CNV) analysis and a mutation analysis of the complete coding sequence and the 3'-UTR of SLC6A4. No single marker showed statistically significant association with BPI, nor did any of the haplotypes. In the mutation analysis 13 novel variants were detected, including 2 amino acid substitutions M389V and I587L, but these are probably not implicated in risk for BP. No deletions or duplications were detected in the CNV analysis. We conclude that variation in the SLC6A4 gene or its regulatory regions does not contribute to the susceptibility for BP disorder in the Northern Swedish population.

SNPs reported by this study for BD (count: 24)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs8073965	SLC6A4	G/T	Allelic association P-value = 0.10; Genotypic association P-value = 0.11	No significant association was observed No significant association was observed	Negative
rs7215330	BLMH SLC6A4	C/T	Allelic association P-value = 0.52; Genotypic association P-value = 0.55	No significant association was observed No significant association was observed	Negative
rs4436830	RNY4P13 EFCAB5 SLC6A4	A/G	Allelic association P-value = 0.63; Genotypic association P-value = 0.62	No significant association was observed No significant association was observed	Negative
rs4392119	SLC6A4	C/T	Allelic association P-value = 1.00; Genotypic association P-value = 1.00	No significant association was observed No significant association was observed	Negative
rs4583306	SLC6A4	A/G	Allelic association P-value = 0.09; Genotypic association P-value = 0.10	No significant association was observed No significant association was observed	Negative
rs4567782	EFCAB5 SLC6A4	A/C	Allelic association P-value = 0.51; Genotypic association P-value = 0.51	No significant association was observed No significant association was observed	Negative
rs3813034	SLC6A4	A/C	Allelic association P-value = 0.33; Genotypic association P-value = 0.31	No significant association was observed No significant association was observed	Negative
rs3794808	SLC6A4	A/G	Allelic association P-value = 0.23; Genotypic association P-value = 0.23	No significant association was observed No significant association was observed	Negative
rs4251417	SLC6A4	A/G	Allelic association P-value = 0.58; Genotypic association P-value = 0.58	No significant association was observed No significant association was observed	Negative
rs3816828	BLMH SLC6A4	G/T	Allelic association P-value = 0.39; Genotypic association P-value = 0.40	No significant association was observed No significant association was observed	Negative
rs2020936	SLC6A4	C/T	Allelic association P-value = 0.16; Genotypic association P-value = 0.19	No significant association was observed No significant association was observed	Negative
rs2020942	SLC6A4	A/G	Allelic association P-value = 0.31; Genotypic association P-value = 0.34	No significant association was observed No significant association was observed	Negative
rs2020930	SLC6A4	A/G	Allelic association P-value = 0.86; Genotypic association P-value = 0.87	No significant association was observed No significant association was observed	Negative
rs2020933	SLC6A4	A/T	Allelic association P-value = 0.70; Genotypic association P-value = 0.71	No significant association was observed No significant association was observed	Negative
rs2628179	SSH2 SLC6A4	C/G	Allelic association P-value = 0.67; Genotypic association P-value = 0.69	No significant association was observed No significant association was observed	Negative
rs3794730	SSH2 SLC6A4	A/G	Allelic association P-value = 0.80; Genotypic association P-value = 0.80	No significant association was observed No significant association was observed	Negative
rs2066713	SLC6A4	C/T	Allelic association P-value = 0.39; Genotypic association P-value = 0.40	No significant association was observed No significant association was observed	Negative
rs2129785	BLMH SLC6A4	A/G	Allelic association P-value = 0.26; Genotypic association P-value = 0.28	No significant association was observed No significant association was observed	Negative
rs1050565	BLMH SLC6A4	A/G	Allelic association P-value = 0.71; Genotypic association P-value = 0.72	No significant association was observed No significant association was observed	Negative
rs11080123	BLMH RNU6-1267P SLC6A4	C/T	Allelic association P-value = 0.51; Genotypic association P-value = 0.52	No significant association was observed No significant association was observed	Negative
rs140700	SLC6A4	A/G	Allelic association P-value = 0.83; Genotypic association P-value = 0.91	No significant association was observed No significant association was observed	Negative
rs140701	SLC6A4	A/G	Allelic association P-value = 0.18; Genotypic association P-value = 0.18	No significant association was observed No significant association was observed	Negative
rs12150214	SLC6A4	C/G	Allelic association P-value = 0.14; Genotypic association P-value = 0.18	No significant association was observed No significant association was observed	Negative
rs12601963	SSH2 SLC6A4	A/G	Allelic association P-value = 0.63; Genotypic association P-value = 0.65	No significant association was observed No significant association was observed	Negative

Haplotypes reported by this study for BD (count: 4)

Markers	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs3813034-5 - HTTVNTR - 5HTTLPR	SLC6A4	Global simulated P-value = 0.48	No statistically significant association was found. No statistically significant association was found.	Negative
rs3813034-5 - HTTLPR	SLC6A4	Global simulated P-value = 0.22	No statistically significant association was found. No statistically significant association was found.	Negative
rs3813034-5 - HTTVNTR	SLC6A4	Global simulated P-value = 0.66	No statistically significant association was found. No statistically significant association was found.	Negative
5-HTTVNTR - 5-HTTLPR	SLC6A4	Global simulated P-value = 0.22	No statistically significant association was found. No statistically significant association was found.	Negative

Other variants reported by this study for BD (count: 2)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
5HTTLPR	SLC6A4	microsatellite	short/long		Allelic association P-value = 0.41;Genotypic association P-value = 0.40	no significant associations were found no significant associations were found	Negative
SLC6A4 intron2 VNTR	SLC6A4	VNTR	9-10-12 repeat		Allelic association P-value = 0.70;Genotypic association P-value = 0.72	no significant associations were found no significant associations were found	Negative

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