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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Basic Info

Name	5-HTT intron 2 VNTR
Type	VNTR
Related Gene	SLC6A4
No. of Study	5 (Positive: 1; Negative 4; Trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Variant related studies (count: 5)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Bellivier, F., 1998 (b)			Fisher exact test between STin 2.9/others and others genotypes pooled: P-value = 0.542, n.s. (a) vs. (c): exact probability, P-value = 0.73; (b) vs. (c): exact probability, P-value = 0.72; (d) vs. (f): exact probability, P-value = 0.89; (e) vs. (f): exact probability, P-value = 1. Comparison of genotype distributions (exact probabilities): (a) vs. (d): P = 0.049; (b) vs. (d): P = 0.0016; (c) vs. (d): P = 0.015.	For the VNTR polymorphism, genotype and allele distributions..... More For the VNTR polymorphism, genotype and allele distributions did not differ between bipolar patients and controls or between unipolar patients and controls. Less	Negative
Rees, M., 1997			12 allele, P-value=0.031, X²=3.48, 1 d.f., one-tail; odds ratio, OR=1.38, 95% confidence interval, CI = 0.98-1.93; genotypic P-value=0.20, X²=3.22, 2 d.f.	There is a significant increase in frequency of the 12 allel..... More There is a significant increase in frequency of the 12 allele in probands compared with controls. The difference between genotype distributions does not reach conventional levels of statistical significance, but there is a suggestion of a dosage effect. Less	Positive
Furlong, R. A., 1998 (a)			P-value>0.05; meta-analysis of VNTR Alleles: test of association, P-value=0.12, X²=4.29, 2df, OR (95% CI)=0.88 (0.41-1.91) of allele 9, OR (95% CI)=0.82 (0.68-0.99) of allele 10 in the bipolar sample; P-value=0.23, X²=2.92, 2df, OR (95% CI)=1.05 (0.56-1.95) of allele 9, OR (95% CI)=0.90 (0.77-1.05) of allele 10 in the combined sample.	Allele and genotype frequencies were not significantly diffe..... More Allele and genotype frequencies were not significantly different from the controls in either of the patient groups or in the combined unipolar and bipolar group. We found no significant allelic association of the VNTR polymorphism with affective disorder. Less	Negative
Hoehe, M. R., 1998	9, 10, 12 allele		Fisherâ€™s exact test, P-value>0.999 between controls and BD patients of allele 9; P-value=0.453 between controls and combined patients of allele 9	the frequency of the second intron allele 9 did not differ b..... More the frequency of the second intron allele 9 did not differ between controls and combined patients nor between controls and BD patients Less	Negative
Gutierrez, B., 1998			for alleles: X²=0.27, df=1, P-value=0.606; for genotypes: X²=0.84, df=2, P-value=0.657; for allele STin.10: OR=1.32 (95% CI 0.72-2.42); for allele STin.12: OR=1.03 (0.40-2.70)	No significant differences were found between bipolar patien..... More No significant differences were found between bipolar patients and controls when allele and genotype distributions were analyzed. In our sample, none of these alleles was found to involve any susceptibility for bipolar affective disorder. Less	Negative

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with MDD from cross-disorder studies (count: 3)

Reference	Statistical Result	Description	Result Category
Hoehe, M. R., 1998	Fisherâ€™s exact test, P-value>0.999 between controls and MDD patients of allele 9; P-value=0.453 between controls and combined patients of allele 9	the frequency of the second intron allele 9 did not differ between controls and combined patients nor between controls and MDD patients	Negative
Rees, M., 1997	genotypes bearing the 9 allele in the out-patient, non lithium unipolars: P-value=0.041, Fisherâ€™s exact test, one-tail; P-value=0.056, Fisherâ€™s exact test, one-tail, when compared against the lithium clinic unipolar probands.	The frequency of the rare 9 allele was greater in unipolars (0.04) than controls (0.02) although comparing the combined sample of unipolars against controls reveals no statistically significant difference in allele or genotype distributions. However, the frequency was greater in the out-patient, non-lithium unipolars (0.08) and the overrepresentation of genotypes bearing the 9 allele amongst these probands achieves statistical signifiance when compared against the controls and approaches significance when compared against the lithium clinic unipolar probands.	Positive
Furlong, R. A., 1998 (a)	P-value>0.05; meta-analysis of VNTR Alleles: test of association, P-value=0.92, X²=0.16, 2df, OR (95% CI)=1.16 (0.55-2.50) of allele 9, OR (95% CI)=1.01 (0.83-1.23)) of allele 10 in the unipolar sample; P-value=0.23, X²=2.92, 2df, OR (95% CI)=1.05 (0.56-1.95) of allele 9, OR (95% CI)=0.90 (0.77-1.05) of allele 10 in the combined sample.	Allele and genotype frequencies were not significantly different from the controls in either of the patient groups or in the combined unipolar and bipolar group. We found no significant allelic association of the VNTR polymorphism with affective disorder.	Negative