کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8478788 | 1551173 | 2016 | 44 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetics of Parkinson's disease
ترجمه فارسی عنوان
ژنتیک بیماری پارکینسون
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کلمات کلیدی
Interaction - اثر متقابلGenetic association - ارتباط ژنتیکیEpidemiology - اپیدمیولوژی(همهگیرشناسی)Parkinson's disease - بیماری پارکینسونEnvironment - محیط زیستGenome-wide association study - مطالعه مرتبط با ژنومGWAS - مطالعهٔ همخوانی سراسر ژنومgenetic risk score - نمره خطر ژنتیکیPrediction - پیش بینی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
چکیده انگلیسی
Almost two decades after the identification of SNCA as the first causative gene in Parkinson's disease (PD) and the subsequent understanding that genetic factors play a substantial role in PD development, our knowledge of the genetic architecture underlying this disease has vastly improved. Approximately 5-10% of patients suffer from a monogenic form of PD where autosomal dominant mutations in SNCA, LRRK2, and VPS35 and autosomal recessive mutations in PINK1, DJ-1, and Parkin cause the disease with high penetrance. Furthermore, recent whole-exome sequencing have described autosomal recessive DNAJC6 mutations in predominately atypical, but also cases with typical PD. In addition, several other genes have been linked to atypical Parkinsonian phenotypes. However, the vast majority of PD is genetically complex, i.e. it is caused by the combined action of common genetic variants in concert with environmental factors. By the application of genome-wide association studies, 26 PD risk loci have been established to date. Similar to other genetically complex diseases, these show only moderate effects on PD risk. Increasing this etiologic complexity, many of the involved genetic and environmental risk factors likely interact in an intricate fashion. This article aims to provide a comprehensive overview of the current knowledge in PD genetics.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular and Cellular Probes - Volume 30, Issue 6, December 2016, Pages 386-396
Journal: Molecular and Cellular Probes - Volume 30, Issue 6, December 2016, Pages 386-396
نویسندگان
Christina M. Lill,