Huntington's disease(HD)is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E(APOE)gene is thought to be associated with many neurode...Huntington's disease(HD)is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E(APOE)gene is thought to be associated with many neurodegenerative diseases.Here,we enrolled a cohort of 223 unrelated Han Chinese patients with HD and1241 unrelated healthy controls in Southeastern China and analyzed the correlation between APOE genotypes and HD phenotypes.The results showed that the frequency of the E4 allele(7.1%)in HD patients was statistically less than that in controls(12.0%)(P =0.004).In addition,we divided patients into motor-onset and non-motor-onset groups,and analyzed the relationship with APOE genotypes.The results,however,were negative.Furthermore,the age at onset(AAO),defined as the age at the onset of motor symptoms,was compared in each APOE genotype subgroup and multivariate regression analysis was used to exclude the interference of CAG repeat length on AAO,but no association was found between APOE genotypes and AAO.Finally,we analyzed adult-onset HD to exclude the interference caused by juvenile HD(n = 13),and the results were negative.Therefore,our study suggests that APOE may not be a genetic modifier for HD,especially for adult-onset HD among Chinese of Han ethnicity.To the best of our knowledge,this is the first study of the correlation between APOE genotypes and HD phenotypes in a Han Chinese population.展开更多
Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral changes.It is caused by unstable expande...Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral changes.It is caused by unstable expanded CAG trinucleotide repeats in exon 1 of the huntingtin (HTT)gene,located on chromosome 4p16.3 [1].展开更多
Identifying gene names is an attractive research area of biology computing.However,accurate extraction of gene names is a challenging task with the lack of conventions for describing gene names.We devise a systematica...Identifying gene names is an attractive research area of biology computing.However,accurate extraction of gene names is a challenging task with the lack of conventions for describing gene names.We devise a systematical architecture and apply the model using conditional random fields(CRFs)for extracting gene names from Medline.In order to improve the performance,biomedical ontology features are inserted into the model and post processing including boundary adjusting and word filter is presented to solve name overlapping problem and remove false positive single words.Pure string match method,baseline CRFs,and CRFs with our methods are applied to human gene names and HIV gene names extraction respectively in 1100 abstracts of Medline and their performances are contrasted.Results show that CRFs are robust for unseen gene names.Furthermore,CRFs with our methods outperforms other methods with precision 0.818 and recall 0.812.展开更多
基金supported by a grant from the National Natural Science Foundation of China (81125009)the Key Research and Development Project of Zhejiang Province, China (2018C03G2011218)the Research Foundation for Distinguished Scholars of Zhejiang University (188020193810101/089)
文摘Huntington's disease(HD)is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E(APOE)gene is thought to be associated with many neurodegenerative diseases.Here,we enrolled a cohort of 223 unrelated Han Chinese patients with HD and1241 unrelated healthy controls in Southeastern China and analyzed the correlation between APOE genotypes and HD phenotypes.The results showed that the frequency of the E4 allele(7.1%)in HD patients was statistically less than that in controls(12.0%)(P =0.004).In addition,we divided patients into motor-onset and non-motor-onset groups,and analyzed the relationship with APOE genotypes.The results,however,were negative.Furthermore,the age at onset(AAO),defined as the age at the onset of motor symptoms,was compared in each APOE genotype subgroup and multivariate regression analysis was used to exclude the interference of CAG repeat length on AAO,but no association was found between APOE genotypes and AAO.Finally,we analyzed adult-onset HD to exclude the interference caused by juvenile HD(n = 13),and the results were negative.Therefore,our study suggests that APOE may not be a genetic modifier for HD,especially for adult-onset HD among Chinese of Han ethnicity.To the best of our knowledge,this is the first study of the correlation between APOE genotypes and HD phenotypes in a Han Chinese population.
基金supported by the Key Research and Development Project of Zhejiang Province,China (2019C03039)the Research Foundation for Distinguished Scholars of Zhejiang University,China(188020193810101/089)。
文摘Dear Editor,Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by movement disorder,progressive dementia,and psychiatric and behavioral changes.It is caused by unstable expanded CAG trinucleotide repeats in exon 1 of the huntingtin (HTT)gene,located on chromosome 4p16.3 [1].
基金supported by China Scholarship Council under Grant No 2007104897UESTC Youth Foundation under Grant No JX05007
文摘Identifying gene names is an attractive research area of biology computing.However,accurate extraction of gene names is a challenging task with the lack of conventions for describing gene names.We devise a systematical architecture and apply the model using conditional random fields(CRFs)for extracting gene names from Medline.In order to improve the performance,biomedical ontology features are inserted into the model and post processing including boundary adjusting and word filter is presented to solve name overlapping problem and remove false positive single words.Pure string match method,baseline CRFs,and CRFs with our methods are applied to human gene names and HIV gene names extraction respectively in 1100 abstracts of Medline and their performances are contrasted.Results show that CRFs are robust for unseen gene names.Furthermore,CRFs with our methods outperforms other methods with precision 0.818 and recall 0.812.
