The role of the N363S polymorphism of the human glucocorticoid receptor gene (NR3C1) in Turkish patients with major depressive disorder (MDD)
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Дата
2016-09-04Автор
Bayramci, N. S.
Benli, I.
Oran Demi, M.
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Glucocorticoid receptor (GR) is one of the involved receptors and
its gene has been recognized as a candidate gene for major depressive
disorder and bipolar disorder. The involvement of the GR gene
(NR3C1) locus on human chromosome 5q31-q32. The N363S
(rs6195) is located within exon 2 and changes the second base of
codon 363, leading to asparagine to serine substitution in the transactivation
domain of GR. In this study, we aimed to examine the
role of NR3C1 N363S polymorphisms in genetic susceptibility to
MDD development in a Turkish population. A total of 100 consecutive
unrelated adult patients with documented medical records of
MDD were from outpatient Psychiatry Clinic in Gaziosmanpas a
University Research and Training Hospital, Tokat, Turkey by referral
from the treating physician, after obtaining initial verbal consent
to participate in the study. In addition, 100 control subjects from the
same area as the patients, and comprising blood donors, healthy volunteers
were enrolled this study. DNA was isolated from peripheral
blood samples and the N363S variant was screened by the RT-PCR
technique. 99 out of the 100 MDD patients were found to be AA
genotype at the N363S (AA genotype frequency 0.99; A-allele frequency
0.995). Also, 1 out of the 100 MDD patients was found to
be AG genotype (AG genotype frequency 0.01; G-allele frequency
0.005). No homozygote for the rare G-allele was seen. Significantly
more frequent occurrence of allele-A in N363S polymorphism was
observed in the group of the patients with MDD in comparison with
the control group (OR: 4.061, 95% CI: 0.449–36.660, v2
: 1.823, p:
0.177). For genotype AG versus AA, no significant correlation was
demonstrated between patients and the control group with respect
to the investigated SNP (OR: 0.242, 95% CI: 0.027–2.208, v2
: 1.846,
p: 0.1742). This study was supported by the Gaziosmanpas a University
Scientific Research Fund (GOU BAP2013/8).