Structure of a variable number tandem repeat of the serotonin transporter gene and association with affective disorder
Structure of a variable number tandem repeat of the serotonin transporter gene and association with affective disorder
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DOI：
10.1097/00041444-199624000-00001
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发表时间：
1996-12-01
影响因子：
0.9
通讯作者：
Harmar, AJ
中科院分区：
文献类型：
--
作者：
Battersby, S;Ogilvie, AD;Harmar, AJ
我们最近报道了5-羟色胺转运体基因的可变数目串联重复序列（VNTR）区域的多态性与抑郁症易感性之间的关联。我们鉴定了三个等位基因，分别含有9个（STin2.9）、10个（STin2.10）和12个（STin2.12）拷贝的重复元件。我们在这里报告了这三个等位基因的序列。重复元件符合共有序列GGCTGYGACCY（R）GRRTG，其中Y=T/C，R=G/A，其中一个重复元件中的第12个碱基对丢失。我们还扩大了研究中病例和对照的数量。比较了119例单次或复发性抑郁症患者、128例双相情感障碍患者和346例对照组中这三种等位基因的频率。情感性精神障碍患者和对照组之间携带STin2.9等位基因的个体比例存在显著差异。对于单STin2.9等位基因的单相障碍的风险，比值比为4.44（95%CI，1.65-11.95），双相障碍为3.22（95%CI，1.15-9.09）。这些发现支持了一个假设，即5-羟色胺转运体基因的等位基因变异可能导致抑郁症和双相情感障碍的易感性。
We have recently reported an association between a polymorphism of a variable number tandem repeat (VNTR) region of the serotonin transporter gene and susceptibility to major depressive disorder. We identified three alleles containing respectively 9 (STin2.9), 10 (STin2.10) and 12 (STin2.12) copies of a repetitive element. We report here the sequences of the three alleles. The repetitive element conformed to the consensus sequence, GGCTGYGACCY(R)GRRTG, where Y=T/C, R=G/A, with loss of the 12th base pair in one of the repeating elements. We have also extended the numbers of cases and controls in the study. The frequencies of the three alleles in 119 individuals with single or recurrent major depressive episodes, 128 individuals with bipolar disorder and a group of 346 controls were compared. There was a significant difference between patients with affective disorder and controls in the proportion of individuals carrying the STin2.9 allele. For the risk of unipolar disorder given a single STin2.9 allele, the odds ratio was 4.44 (95% Cl, 1.65-11.95) and for bipolar disorder 3.22 (95% Cl, 1.15-9.09). The findings support the hypothesis that allelic variation in the serotonin transporter gene may contribute to susceptibility for both major depression and bipolar disorder.