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首页> 外文期刊>Psychiatric genetics >The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.
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The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.

机译：WFS1（Wolfram综合征1）不是导致精神疾病的主要易感基因。

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BACKGROUND: Wolfram syndrome is a neurodegenerative disorder that is inherited in an autosomal recessive mode and characterized by the presence of diabetes mellitus and optic atrophy. Patients and heterozygote carriers are at an increased risk of suffering psychiatric disorders. Mutations in the Wolfram gene (WFS1 ) (4p16.1) are responsible for the development of the disease, and mRNA and protein expression of WFS1 have recently been found in areas of the rat brain that can be related to the psychiatric symptoms. OBJECTIVE: To test the hypothesis that WFS1 mutations in heterozygote carriers or other variants of WFS1 can predispose to mental illness. METHODS: Stage 1: Exons 2, 4 and 8 of that harbour mutations in Spanish Wolfram syndrome families were examined by Single Strand Conformation Polymorphism and sequencing analysis in 43 patients with affective disorder to identify variants and mutations. Stage 2: two variants identified in stage 1 were analysed in 152 psychiatric patients (118 schizophrenia and 34 affective disorder) and 177 control subjects. RESULTS: Six variants (I333V Ile-->Val, F341, N500, R708, K774, K811) and a WFS1 mutation (R818C, Arg-->Cys) were found in the 43 patients analysed in stage 1 of the study. In stage 2, the R818C mutation was not found in the group of psychiatric patients but it was present in one control subject. The association study conducted with the I333V variant did not find significant differences in allele or genotype frequencies between patients and control subjects. CONCLUSIONS: Our results suggest that WFS1 is not a major susceptibility gene for the development of psychiatric disorders in our population.
机译：背景：Wolfram综合征是一种以常染色体隐性遗传的遗传性神经退行性疾病，其特征是存在糖尿病和视神经萎缩。患者和杂合子携带者患精神病的风险增加。 Wolfram基因（WFS1）（4p16.1）的突变与疾病的发展有关，最近在大鼠脑区域发现了WFS1的mRNA和蛋白质表达，这些区域可能与精神症状有关。目的：检验杂合子携带者或其他WFS1变体中WFS1突变易患精神疾病的假说。方法：第1阶段：通过单链构象多态性和测序分析，对43例情感障碍患者进行了西班牙Wolfram综合征家族第2、4和8个外显子突变检测，以鉴定变异和突变。阶段2：在152位精神病患者（118位精神分裂症和34位情感障碍）和177位对照受试者中分析了在1期中发现的两种变异。结果：在研究的第一阶段中分析的43例患者中发现了六个变体（I333V Ile-> Val，F341，N500，R708，K774，K811）和WFS1突变（R818C，Arg-> Cys）。在第2阶段，在精神病患者组中未发现R818C突变，但在一个对照受试者中存在。用I333V变异体进行的关联研究未发现患者与对照组之间等位基因或基因型频率的显着差异。结论：我们的结果表明，WFS1不是我们人群中精神疾病发展的主要易感基因。

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