A rare short allele of the serotonin transporter promoter region (5-HTTLPR) found in an aggressive schizophrenic patient of Jewish Libyan origin
A rare short allele of the serotonin transporter promoter region (5-HTTLPR) found in an aggressive schizophrenic patient of Jewish Libyan origin
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DOI：
10.1097/00041444-200010040-00005
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发表时间：
2000-12-01
影响因子：
0.9
通讯作者：
Weizman, R
中科院分区：
文献类型：
--
作者：
Frisch, A;Finkel, B;Weizman, R
5-羟色胺转运体基因（SLC 6A 4）在大脑中的多巴胺能通路中起关键作用，是介导各种精神疾病遗传易感性的候选基因。在该基因的多态性启动子区[5-HT转运体基因连锁多态性区（5-HTTLPR）]中有两个主要等位基因：分别具有16和14个重复单位的长和短等位基因。短等位基因具有较低的活性，与几种精神疾病和人格特征有关。我们发现并测序了一个新的等位基因，有13个重复单位，比常见的短等位基因短23个碱基对。这种独特的等位基因被检测到的精神分裂症患者的犹太利比亚血统。患者表现出极端的攻击性行为，并在几次尝试后自杀。在172例健康对照组和361例各种精神障碍患者中均未检测到该新的短等位基因。一个非常短的独特的等位基因在一个严重的侵略性精神分裂症患者的存在可能反映了特定的表型的特定影响，虽然它是不太可能的，这个等位基因有一个主要的贡献精神分裂症的易感性。该等位基因在5-羟色胺转运中的作用以及与疾病表型的可能联系有待进一步研究。Psychiatr Genet 10：179-183（C）2000 Lippincott威廉姆斯&威尔金斯。
The serotonin transporter gene (SLC6A4), which plays a key role in the serotonergic pathway in the brain, is a candidate for mediating genetic susceptibility to various psychiatric disorders. There are two predominant alleles in the polymorphic promotor region [5-HT transporter gene-linked polymorphic region (5-HTTLPR)] of this gene: a long and a short allele with 16 and 14 repeat units, respectively. The short allele has lower activity and is associated with several psychiatric disorders and personality traits. We identified and sequenced a novel allele with 13 repeat units, 23 base pairs shorter than the common short allele. This unique allele was detected in a schizophrenic patient of Jewish Libyan origin. The patient exhibited extreme aggressive behavior and committed suicide after several attempts. The novel short allele was not detected in 172 healthy control subjects and 361 patients with various mental disorders. The presence of a very short unique allele in a severely aggressive schizophrenic patient may reflect a specific effect on the particular phenotype, although it is unlikely that this allele has a major contribution to susceptibility to schizophrenia. The role of the allele in serotonin transport and possible association with disease phenotype should be further investigated. Psychiatr Genet 10:179-183 (C) 2000 Lippincott Williams & Wilkins.