BDgene

Other Variant Report

Basic Info
Name SLC6A4 intron2 VNTR
Type VNTR
Location intron2
Related Gene SLC6A4
No. of Study 16 (Positive: 4; Negative 12; Trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES

Variant related studies (count: 16)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Mellerup, E.,2001 9, 10 or 12 repeats Association analysis:allele P-value > 0.05, genotype P-value > 0.05 No significant association was observed in BD. Negative
Sun, H. S., 2004 10/12 repeated units Fisher's exact test, allelic P-value = 1, genotypic P-value = 1
No association can be obtained between any of the SLC6A4 gen..... More
Negative
Cho, H. J.,2005 9-10-12 repeat meta-analysis:the pooled estimate using the fixed-effects model(OR 1.12, 95% CI 1.02-1.22, P=0.016) Significant associations were found in BP. Positive
Ikeda, M., 2006 allelic P-value = 0.93, genotypic P-value = 0.993, Power calculation GRR=1.99 No associations of 'tagging' marker with BP was found. Negative
Kirov, G.,1999(c) multi-alleles TDT:chi2 = 2.0, 1 df, P = 0.16 for all samples;chi2 = 3.85, 1 df, P < 0.05 after excluding overlaps
If we exclude 24 families in which the proband was a case in..... More
Positive
Alaerts, M.,2009 9-10-12 repeat Allelic association P-value = 0.70;Genotypic association P-value = 0.72 no significant associations were found Negative
Saleem, Q.,2000 12-10bp Association analysis:allele frequency, P-value > 0.4; genotype P-value > 0.5 No significant association was observed in BD. Negative
Kunugi, H.,1997(a) multi-alleles Chi-square tests:homozygosity for STin12 allele,chi square = 6.4, d.f. = 1, P = 0.01; odds ratio 2.2,95% CI 1.2–4.0;allele chi square = 3.9, d.f. = 1, P = 0.05; odds ratio 1.7, 95% CI 1.0–3.0.
The STin12 allele was found to be significantly more common ..... More
Positive
Soronen, P.,2011 9Rt10R/12R For BD, allele, P-value = 0.5695 No significant association was observed. Negative
Battersby, S.,1996 multi-alleles For the risk of bipolar disorder given a single STin2.9 allele, the odds ratio was 3.22 (95% Cl, 1.15-9.09),P-value < 0.05
There was a significant difference between patients with bip..... More
Positive
Kumar, H. B., 2007 not given in the original text The BPAD group did not differ from controls, Negative
Dimitrova, A.,2002 Allele9/Allele10/Allele12 Association analysis:TDT, for allele10, T/NT=54/53, P-value = 0.92;for allele12, T/NT=54/58, P-value = 0.7 No significant association was observed in BD. Negative
Masoliver, E., 2006 10, 12 repeat P-value = NS (not significant) of allele frequencies and distribution of genotypes in individuals with bipolar disorder, unipolar disorder and controls
No significant differences in the genotype distribution were..... More
Negative
Mynett-Johnson, L.,2000 12-10bp Assocaition analysis:TDT, Independent trios(N=92), chi square=0.52, 1df, P-value = 0.471;all trios(N=106), chi square=0.74, 1df, P-value = 0.389 No significant association was observed in BD. Negative
Lotrich, F. E., 2004 X2 (df=2)=3.8, P-value = 0.15 in European/American populations. X2 (df=2)=1.8, P-value = 0.18 in the Asian population.
There were no significant allele frequency associations with..... More
Negative
Lasky-Su, J. A.,2005 9-10-12 repeat meta-analysis:OR=1.05, z=1.06, 95% CI (OR): [0.96, 1.14], P-value = 0.29 No significant associations were found in BPD. Negative

Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Ikeda, M., 2006 allelic P-value = 0.583, genotypic P-value = 0.35, Power calculation GRR=1.78 No associations of 'tagging' marker with SCZ was found. Negative
Dimitrova, A.,2002 Association analysis:TDT, for allele9, T/NT=10/9, P-value = 0.82;for allele10, T/NT=116/125, P-value = 0.56;for allele12, T/NT=128/122, P-value = 0.7 No significant association was observed in SZ. Negative

Overlap with MDD from cross-disorder studies (count: 6)
Reference Statistical Result Description Result Category
Lotrich, F. E., 2004 X2 (df=2)=0.14, P-value = 0.14 in European/American populations. X2 (df=2)=2.6, P-value = 0.11 in the Asian population None of the three alleles (Stin2.9, Stin2.10, Stin2.12) were associated with MDD. Negative
Mellerup, E.,2001 Association analysis:allele P-value > 0.05, genotype P-value > 0.05 No significant association was observed in MDD. Negative
Lasky-Su, J. A.,2005 meta-analysis:OR=0.99, z=0.29, P-value = 0.77, CI (OR): [0.92-1.06] No significant associations were found in MDD. Negative
Battersby, S.,1996 For the risk of unipolar disorder given a single STin2.9 allele, the odds ratio was 4.44 (95% Cl, 1.65-11.95),P-value < 0.05 There was a significant difference between patients with unipolar disorder and controls in the proportion of individuals carrying the STin2.9 allele. Positive
Kunugi, H.,1997(a) chi square tests:all P-value >0.05 No significant differences were found in unipolar groups. Negative
Soronen, P.,2011 For MDD, allele, P-value = 0.0017;For Mood, allele, P-value = 0.0067, OR=1.248, P-value(perm)=0.282 Significant associations were found in MDD. Positive