Study Report

Basic Info

Reference	Stober, G.,1996 PMID: 8950409
Citation	Stober, G., M. M. Nothen, et al. (1996). "Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders." Am J Med Genet 67(6): 523-532.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	103 patients with bipolar affective disorder, in 228 schizophrenia patients and in 187 controls
SNP/Region/Marker Size	5 variants
Predominant Ethnicity	Caucasian
Population	German

Detail Info

Sample Diagnosis	DSM
Technique	Genotyping
Statistical Method	Fisher's exact test
Result Summary	In a case-control study distribution of missense substitutions was found to be similar in 103 patients with bipolar affective disorder, in 228 schizophrenia patients and in 187 controls, indicating that presence of these variants is not causally related to major psychiatric diseases. The detection of a highly polymorphic silent 1287G/A polymorphism was utilized to demonstrate biallelic expression of the NET in adult human brain.

Genetic factors reported by this study for BD

Other variants reported by this study for BD (count: 5)

Variant Name	Related Gene	Type	Allele Change	Statistical Values	Author Comments	Result Category
SLC6A2 Gly478Ser	SLC6A2	point mutation	Gly478Ser	Fisher's exact test:all P-value >0.05	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
SLC6A2 Val245Ile	SLC6A2	point mutation	Val245Ile	Fisher's exact test:all P-value >0.05	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
SLC6A2 Val449Ile	SLC6A2	point mutation	Val449Ile	Fisher's exact test:all P-value >0.05	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
SLC6A2 Val69Ile	SLC6A2	point mutation	Val69Ile	Fisher's exact test:all P-value >0.05	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative
SLC6A2 Thr99Ile	SLC6A2	point mutation	Thr99Ile	Fisher's exact test:all P-value >0.05	No significant differences were found in bipolar groups. No significant differences were found in bipolar groups.	Negative

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

Gene	Statistical Values/Author Comments	Result Category
SLC6A2	The results indicated that presence of these variants is not causally related to major psychiatric d...... The results indicated that presence of these variants is not causally related to major psychiatric diseases. More...	Negative

Genetic factors reported by this study for SZ and/or MDD

Other variants reported by this study for SZ/MDD

Disease	Variant Name	Related Gene	Type	Statistical Values	Description	Result Category
SZ	SLC6A2 Val69Ile	SLC6A2	point mutation	chi square tests:all P-value >0.05	No significant differences were found in SCZ groups.	Negative
SZ	SLC6A2 Gly478Ser	SLC6A2	point mutation	chi square tests:all P-value >0.05	No significant differences were found in SCZ groups.	Negative
SZ	SLC6A2 Val449Ile	SLC6A2	point mutation	chi square tests:all P-value >0.05	No significant differences were found in SCZ groups.	Negative
SZ	SLC6A2 Val245Ile	SLC6A2	point mutation	chi square tests:all P-value >0.05	No significant differences were found in SCZ groups.	Negative
SZ	SLC6A2 Thr99Ile	SLC6A2	point mutation	chi square tests:all P-value >0.05	No significant differences were found in SCZ groups.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	SLC6A2	The results indicated that presence of these variants is not causally related to major psychiatric diseases.	Negative