Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

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• 作者：Shangxi Xiao ; Christine Sato ; Toshitaka Kawarai ; Emily F. Goodall ; Hardev S. Pall ; Lorne H. Zinman ; Janice Robertson ; Karen Morrison ; Ekaterina Rogaeva
• 关键词：Amyotrophic lateral sclerosis ; Single nucleotide polymorphism ; Progranulin ; Risk factor
• 刊名：Neurobiology of Aging
• 出版年：2008
• 出版时间：August 2008
• 年：2008
• 卷：29
• 期：8
• 页码：1279-1282
• 全文大小：97 K

文摘

There is increasing evidence of a clinical, neuropathological and genetic overlap between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We conducted a case–control study using a UK dataset to test the hypothesis that polymorphisms in two FTD-related genes (GRN and FT74) are associated with increased susceptibility to ALS. We evaluated the majority of known genetic variability in IFT74 and GRN. The results revealed that the common variations in IFT74 and GRN neither constitute strong ALS risk factors nor modify the age-at-onset. However, the possibility of a modest risk effect remains to be assessed in large datasets.