PP95. HAPLOTYPE ANALYSIS OF THE SEROTONIN TRANSPORTER GENE WITH MAJOR DEPRESSIVE DISORDER IN BASHKORTOSTAN
T. NOSKOVA, D. Gaysina, A. Zainullina, E. Khusnutdinova
Department of Human Genomics, Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia
e-mail: tatiana248@inbox.ru
*Corresponding Author:
page: 89
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Abstract
Substantial evidence supports a role for dysfunction of the serotonin transporter in the pathogenesis of major depressive disorder (MDD). Polymorphisms in the promoter region (5-HTTLPR) and a variable number of tandem repeats polymorphism in the intron 2 (Stin2 VNTR) of the serotonin transporter gene (SLC6A4) have been widely studied in depressive subjects with conflicting results. We analyzed both polymorphisms using PCR technique in Russian sample of patients diagnosed with MDD (n = 96) and healthy volunteers (n = 224). Maximum likelihood analysis of haplotype distribution demonstrated the presence of linkage disequilibrium between the two polymorphisms both in control subjects (χ2 = 22.14, p < 0.0001), and in cases (χ2 = 26.40, p < 0.0001). Analysis of distribution of the estimated haplotype frequencies did not reveal significant difference between depressive subjects and controls (χ2 =10.62, df = 5, p = 0.062). Further analysis showed overrepresentation of the haplotype L10 (χ2 = 13.19, df = 1, p < 0.001, OR = 2.53, 95%CI 1.48-4.31) in depressive group compared to control one. The L12 haplotype had lower frequency in depressive group compared to that in control group (χ2 = 4.62, df = 1, p = 0.034, OR = 0.59, 95%CI 0.35-0.98). Our findings indicate the contribution of the SLC6A4 gene to susceptibility for major depressive disorder. Because of the limitations of our sample and the weak statistical significance of our findings, further investigations of this gene on different phenotypic groups are necessary.
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