Study Report
Reference
| Citation | Soria, 2010 PubMed |
| Full Info | Soria, V., Martinez-Amoros, E., Escaramis, G., Valero, J., Crespo, J.M., Gutierrez-Zotes, A., Bayes, M., Martorell, L., Vilella, E., Estivill, X. et al. (2010) Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility. J Pineal Res, 49, 35-44.
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Study
| Hypothesis or Background |
Circadian rhythms disruptions, including abnormalities of circadian phase position and melatonin secretion, have been described in major depression (MD). Arylalkylamine N-acetyltransferase (AANAT) is a key enzyme of the melatonin pathway involved in circadian oscillations of melatonin levels.
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| Sample Information | 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects |
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| Method Detail | We assessed the contribution of AANAT gene variability to susceptibility to MD considering common and rare genetic variations through a sequential sequencing and single nucleotide polymorphism (SNP)-based genotyping approach in a sample of 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects. |
| Method Keywords | genotyping |
| Result | We identified 17 sequence changes, thirteen of which represented novel sequence variations. We did not observe an over-representation of patients carrying rare variants compared with the healthy controls. Common variants (MAF > 2%) were included in a case-control association analysis that showed significant association after multiple testing correction of two SNPs located in the promoter region of AANAT with MD: rs3760138 (P = 0.00006) and rs4238989 (P = 0.005). Multimarker analysis found significant associations between two three-marker protective haplotypes and a susceptibility three-marker haplotype containing the rare alleles of rs3760138-rs4238989-rs8150 and MD. We present evidence of the association of genetic variability in the AANAT gene with susceptibility to MD. |
Relationships reported by
Soria, 2010
| Component A Approved Name (Name in Paper) |
Component A Type |
Component B Approved Name (Name in Paper) |
Component B Type |
Statistical Result |
Relationship Description |
Result Category (Positive/Negative)) |
|
MDD
|
syndrome |
rs3760138 (rs3760138) |
SNP |
P-value = 0.00006 |
Common variants (MAF > 2%) were included in a case-control association analysis that showed significant association after multiple testing correction of two SNPs located in the promoter region of AANAT with MD: rs3760138 (P = 0.00006) and rs4238989 (P = 0.005) |
Positive
|
|
MDD
|
syndrome |
rs4238989 (rs4238989) |
SNP |
P-value = 0.005 |
Common variants (MAF > 2%) were included in a case-control association analysis that showed significant association after multiple testing correction of two SNPs located in the promoter region of AANAT with MD: rs3760138 (P = 0.00006) and rs4238989 (P = 0.005) |
Positive
|
|
MDD
|
syndrome |
AANAT (AANAT) |
gene |
P-value<0.01 |
Common variants (MAF > 2%) were included in a case-control association analysis that showed significant association after multiple testing correction of two SNPs located in the promoter region of AANAT with MD: rs3760138 (P = 0.00006) and rs4238989 (P = 0.005) |
Positive
|
