C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China
GGGGCC repeat expansions in the C9orf72 gene have been identified as a major contributing factor in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the overlapping of clinical phenotypes and pathological characteristics between these two diseases and Alzhei...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2013-09-01
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| Series: | Frontiers in Cellular Neuroscience |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fncel.2013.00164/full |
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| author | Bin eJiao Ji-feng eGuo Ji-feng eGuo Ji-feng eGuo Ya-qin eWang Xin-xiang eYan Xin-xiang eYan Lin eZhou Lin eZhou Xiao-yan eLiu Fu-feng eZhang Fu-feng eZhang Ya-fang eZhou Ya-fang eZhou Kun eXia Kun eXia Bei-sha eTang Bei-sha eTang Bei-sha eTang Lu eShen Lu eShen Lu eShen |
| author_facet | Bin eJiao Ji-feng eGuo Ji-feng eGuo Ji-feng eGuo Ya-qin eWang Xin-xiang eYan Xin-xiang eYan Lin eZhou Lin eZhou Xiao-yan eLiu Fu-feng eZhang Fu-feng eZhang Ya-fang eZhou Ya-fang eZhou Kun eXia Kun eXia Bei-sha eTang Bei-sha eTang Bei-sha eTang Lu eShen Lu eShen Lu eShen |
| author_sort | Bin eJiao |
| collection | DOAJ |
| description | GGGGCC repeat expansions in the C9orf72 gene have been identified as a major contributing factor in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the overlapping of clinical phenotypes and pathological characteristics between these two diseases and Alzheimer’s disease (AD), Parkinson’s disease (PD) and essential tremor (ET), we speculated regarding whether C9orf72 repeat expansions also play a major role in these three diseases. Using the repeat-primed polymerase chain reaction method, we screened for C9orf72 in three groups of patients with PD (n=911), AD (n=279), and ET (n=152) in the Chinese Han population. There were no pathogenic repeats (>30 repeats) detected in either the patients or controls (n=314), which indicated that the pathogenic expansions of C9orf72 might be rare in these three diseases. However, the analysis of the association between the number of repeats (p=0.001), short/intermediate genotype (short: <7 repeats; intermediate: ≥7 repeats) (odds ratio 1.37 [1.05, 1.79]), intermediate/intermediate genotype (Odds ratio 2.03 [1.17, 3.54]) and PD risks indicated that intermediate repeat alleles could act as contributors to PD. To the best of our knowledge, this study is the first to reveal the correlation between C9orf72 and Chinese PD, AD or ET patients. Additionally, the results of this study suggest the novel idea that the intermediate repeat allele in C9orf72 is most likely a risk factor for PD. |
| first_indexed | 2024-12-23T21:08:14Z |
| format | Article |
| id | doaj.art-d112c803e90e496b80ab1ecd560e7caa |
| institution | Directory Open Access Journal |
| issn | 1662-5102 |
| language | English |
| last_indexed | 2024-12-23T21:08:14Z |
| publishDate | 2013-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cellular Neuroscience |
| spelling | doaj.art-d112c803e90e496b80ab1ecd560e7caa2022-12-21T17:31:09ZengFrontiers Media S.A.Frontiers in Cellular Neuroscience1662-51022013-09-01710.3389/fncel.2013.0016462069C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in ChinaBin eJiao0Ji-feng eGuo1Ji-feng eGuo2Ji-feng eGuo3Ya-qin eWang4Xin-xiang eYan5Xin-xiang eYan6Lin eZhou7Lin eZhou8Xiao-yan eLiu9Fu-feng eZhang10Fu-feng eZhang11Ya-fang eZhou12Ya-fang eZhou13Kun eXia14Kun eXia15Bei-sha eTang16Bei-sha eTang17Bei-sha eTang18Lu eShen19Lu eShen20Lu eShen21Department of Neurology, Xiangya Hospital, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityState Key Laboratory of Medical GeneticsKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityState Key Laboratory of Medical GeneticsKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityState Key Laboratory of Medical GeneticsKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityDepartment of Neurology, Xiangya Hospital, Central South UniversityState Key Laboratory of Medical GeneticsKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South UniversityGGGGCC repeat expansions in the C9orf72 gene have been identified as a major contributing factor in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the overlapping of clinical phenotypes and pathological characteristics between these two diseases and Alzheimer’s disease (AD), Parkinson’s disease (PD) and essential tremor (ET), we speculated regarding whether C9orf72 repeat expansions also play a major role in these three diseases. Using the repeat-primed polymerase chain reaction method, we screened for C9orf72 in three groups of patients with PD (n=911), AD (n=279), and ET (n=152) in the Chinese Han population. There were no pathogenic repeats (>30 repeats) detected in either the patients or controls (n=314), which indicated that the pathogenic expansions of C9orf72 might be rare in these three diseases. However, the analysis of the association between the number of repeats (p=0.001), short/intermediate genotype (short: <7 repeats; intermediate: ≥7 repeats) (odds ratio 1.37 [1.05, 1.79]), intermediate/intermediate genotype (Odds ratio 2.03 [1.17, 3.54]) and PD risks indicated that intermediate repeat alleles could act as contributors to PD. To the best of our knowledge, this study is the first to reveal the correlation between C9orf72 and Chinese PD, AD or ET patients. Additionally, the results of this study suggest the novel idea that the intermediate repeat allele in C9orf72 is most likely a risk factor for PD.http://journal.frontiersin.org/Journal/10.3389/fncel.2013.00164/fullEssential TremorParkinson’s diseaseAlzheimer’s diseaseC9orf72risk factor |
| spellingShingle | Bin eJiao Ji-feng eGuo Ji-feng eGuo Ji-feng eGuo Ya-qin eWang Xin-xiang eYan Xin-xiang eYan Lin eZhou Lin eZhou Xiao-yan eLiu Fu-feng eZhang Fu-feng eZhang Ya-fang eZhou Ya-fang eZhou Kun eXia Kun eXia Bei-sha eTang Bei-sha eTang Bei-sha eTang Lu eShen Lu eShen Lu eShen C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China Frontiers in Cellular Neuroscience Essential Tremor Parkinson’s disease Alzheimer’s disease C9orf72 risk factor |
| title | C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China |
| title_full | C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China |
| title_fullStr | C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China |
| title_full_unstemmed | C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China |
| title_short | C9orf72 mutation is rare in Alzheimer’s disease, Parkinson's disease and essential tremor in China |
| title_sort | c9orf72 mutation is rare in alzheimer s disease parkinson 39 s disease and essential tremor in china |
| topic | Essential Tremor Parkinson’s disease Alzheimer’s disease C9orf72 risk factor |
| url | http://journal.frontiersin.org/Journal/10.3389/fncel.2013.00164/full |
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