Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort

ChenY.; BurgunderJ.-M.; SongW.; HuangR.; ShangH.-F.

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Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort

机译：中国原发性肌张力障碍患者队列中D216H DYT1基因多态性的评估

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Background: The D216H single-nucleotide polymorphism (SNP) (rs1801968) in DYT1 exon 4 has been suggested to be a genetic modifier in primary dystonia. Methods: To further explore this question, we assessed rs1801968 variations in a cohort of 210 Chinese patients with primary dystonia devoid of DYT1 mutations. Results: We found that focal dystonia, specifically cervical dystonia, was the most common form of dystonia, with 8.1% of all the patients having a positive family history of dystonia. No association of the D216H SNP with primary dystonia was identified. In a subsequent subgroup analysis, the 216H allele was found to occur more frequently in patients with writer's cramp, but no correlation was found between the allele and other forms of dystonia or age of onset. Conclusions: Our findings do not confirm that the allele contributes to the risk of D216H SNP primary dystonia.

机译：背景：DYT1外显子4中的D216H单核苷酸多态性（rs1801968）已被认为是原发性肌张力障碍的遗传修饰因子。方法：为了进一步探讨这个问题，我们评估了210例缺乏DYT1突变的中国原发性肌张力障碍患者的rs1801968变异。结果：我们发现局灶性肌张力障碍，特别是宫颈肌张力障碍是最常见的肌张力障碍形式，所有患者中有8.1％的肌张力障碍家族史为阳性。未发现D216H SNP与原发性肌张力障碍相关。在随后的亚组分析中，发现216H等位基因在作家抽筋的患者中更常见，但在等位基因与其他形式的肌张力障碍或发病年龄之间未发现相关性。结论：我们的发现并未证实等位基因有助于D216H SNP原发性肌张力障碍的风险。

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《European journal of neurology: the official journal of the European Federation of Neurological Societies》 |2012年第6期|共3页
作者
ChenY.; BurgunderJ.-M.; SongW.; HuangR.; ShangH.-F.;
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正文语种 eng
中图分类神经病学;
关键词
D216H SNP; Dystonia; DYT1 gene;

机译：D216H SNP;肌张力障碍;DYT1基因;

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1. Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort [J] . ChenY., BurgunderJ.-M., SongW., European journal of neurology: the official journal of the European Federation of Neurological Societies . 2012,第6期

机译：中国原发性肌张力障碍患者队列中D216H DYT1基因多态性的评估
2. Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population [J] . Chen,Y., Chen,K., Burgunder,J.-M., Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2012,第1a2期

机译：DYT1基因的rs1182多态性与中国人群原发性肌张力障碍的相关性
3. D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia. [J] . Herzfeld T, Korinthenberg R, Muller U Movement disorders . 2011,第1期

机译：TOR1A内的D216H多态性不会影响DRD的渗透性，也不是原发性肌张力障碍的一般修饰剂。
4. Association between +1059G/C CRP Polymorphism and Acute Myocardial Infarction in a Cohort of Patients from Sicily A Pilot Study [C] . CARMELA RITA BALISTRERI, SONYA VASTO, FLORINDA LISTI, International Association of Biomedical Gerontology International . 2006

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6. Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients [O] . Subhajit Giri, Arindam Biswas, Shyamal Kumar Das, 2014

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Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort

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