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GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease:a two-cohort case-control study

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Translational Neurodegeneration 2020年第3期9卷 409-420页

作者： Hong-xu Pan Yu-wen Zhao Jun-pu Mei Zheng-huan Fang Yige Wang Xun Zhou Yang-jie Zhou Rui Zhang Kai-lin Zhang Li Jiang Qian Zeng Yan He Zheng Wang Zhen-hua Liu Qian Xu Qi-ying Sun Yang Yang Ya-cen Hu Ya-se Chen Juan Du Li-fang Lei Hai-nan Zhang Chun-yu Wang Xin-xiang Yan Lu Shen Hong Jiang Jie-qiong Tan Jin-chen Li Bei-sha Tang Ji-feng Guo Department of Neurology Xiangya HospitalCentral South UniversityChangsha 410008China National Clinical Research Center for Geriatric Disorders Xiangya HospitalCentral South UniversityChangsha 410008China Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics School of Life SciencesCentral South UniversityChangsha 410008China Department of Geriatrics Xiangya HospitalCentral South UniversityChangsha 410008China Department of Neurology The Third Xiangya HospitalCentral South UniversityChangsha 410013China Department of Neurology The Second Xiangya HospitalCentral South UniversityChangsha 410011China Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangsha 410008China

Background:Common and rare variants of guanosine triphosphate cyclohydrolase 1(GCH1)gene may play important roles in Parkinson's disease(PD).However,there is a lack of comprehensive analysis of GCH1 genotypes,especially in non-coding *** aim of this study was to explore the genetic characteristics of GCH1,including rare and common variants in coding and non-coding regions,in a large population of PD patients in Chinese mainland,as well as the phenotypic characteristics of GCH1 variant ***:In the first cohort of this case-control study,we performed whole-exome sequencing in 1555 patients with early-onset or familial PD and 2234 healthy controls;then in the second cohort,whole-genome sequencing was performed in sporadic late-onset PD samples(1962 patients),as well as 1279 *** at target GCH1 regions were extracted,and then genetic and detailed phenotypic data were analyzed using regression models and the sequence kernel association *** also performed a meta-analysis to correlate deleterious GCH1 variants with age at onset(AAO)in PD ***:For coding variants,we identified a significant burden of GCH1 deleterious variants in early-onset or familial PD cases compared to controls(1.2%VS 0.1%,Ponset in GCH1 deleterious variant carriers(P=0.0009).Conclusions:The results

关键词： Parkinson's disease age at onset GCH1 Deleterious variants Non-coding variants

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Smoking increases the risk of extraintestinal manifestations in Crohn's disease

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World Journal of Gastroenterology 2014年第34期20卷 12269-12276页

作者： Claudia Ott Angela Takses Florian Obermeier Elisabeth Schnoy Martina Müller Department of Internal Medicine I University of Regensburg93042 RegensburgGermany

AIM:To demonstrate a high prevalence of extraintestinal manifestations(EIMs)in a prospective populationbased cohort of inflammatory bowel disease(IBD)patients at first diagnosis as well as during the early course of the ***:EIMs are common in patients with *** on the frequency of EIMs have mostly been assessed in patients from tertiary centers;however,data about the prevalence of EIMs at first diagnosis as well as factors influencing their incidence during the early course of disease from prospective population-based cohorts are *** present data of patients of our population-based"Oberpfalz cohort"(Bavaria,Germany)from first diagnosis(up to 3 mo after first diagnosis)as well as during the early course of the *** risk factors were assessed by calculating the relative risk(RR)as well as using logistic regression ***:In total,data of 257 newly diagnosed patients with IBD were evaluated[161 Crohn’s disease(CD),96 ulcerative colitis(UC)].Median duration of follow-up was 50 mo after first *** 63.4%of all patients(n=163),an EIM was diagnosed at any point during the observation *** first diagnosis,patients with CD had a significantly increased risk of an EIM[n=69(42.9%)]compared with UC patients[n=21(21.9%);Page at first diagnosis were identified as risk factors for the development of an EIM in CD *** association with EIMs was found for the factors sex,localization of the disease and positive family history of *** contrast,no key factors which increased the risk of development of an EIM could be identified in UC ***:We found a high prevalence of EIM in this cohort at first diagnosis and during th

关键词： Extraintestinal manifestations Crohn's disease Ulcerative colitis Smoking Surgery age at onset

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Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations:A literature reanalysis

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Translational Neurodegeneration 2017年第1期6卷 92-97页

作者： Guo-hua Zhao Xiao-min Liu Department of Neurology Second Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhou 310009China Department of Neurology Fourth Affiliated HospitalSchool of MedicineZhejiang UniversityYiwu 322000China Department of Neurology Qianfoshan HospitalShandong UniversityJinan 16766China

Background:The hereditary spastic paraplegias(HSPs)are a group of clinically and genetically heterogeneous *** 10% of the autosomal dominant(AD)HSPs(ADHSPs)have the spastic paraplegia 3A(SPG3A)genotype which is caused by ATL1 gene *** there are more than 60 reported ATL1 gene mutations and the genotype-phenotype correlation remains *** study aims to investigate the genotypephenotype correlation in SPG3A ***:We performed a reanalysis of the clinical features and genotype-phenotype correlations in 51 reported studies exhibiting an ATL1 gene ***:Most HSPs-SPG3A patients exhibited an early age at onset(AAO)of0.05).The mutational spectrum associated with ATL1 gene mutation is wide,and most mutations are missense mutations,but do not involve the functional motif of ATL1 gene encoded atlastin-1 ***:Our findings indicate that there is no clear genotype-phenotype correlation in HSPs-SPG3A *** also find that exons 4,7,8 and 12 are mutation hotspots in ATL1 gene.

关键词： Hereditary spastic paraplegia SPG3A age at onset ATL1 Mutation Genotype-phenotype correlation

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Earlier onset and multiple primaries in familial as opposed to sporadic esophageal cancer

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World Journal of Medical Genetics 2014年第2期4卷 39-45页

作者： Xiao-Duo Wen Deng-Gui Wen Yi Yang Bao-En Shan Shi-Jie Wang Department of Diagnosis and Image 4th Hospital of Hebei Medical University Cancer Center 4th Hospital of Hebei Medical University

AIM: To study the differences in onset age and multiple primary cancers between familial and sporadic esophageal squamous cell carcinoma(ESCC).METHODS: The differences in onset age and multiple primary cancers were analyzed between ESCC patients with(n = 766) and without(n = 1776) a family history of the cancer. The cases analyzed constituted all consecutive patients who had undergone cure-intent surgery at the Department of Thoracic Surgery of the 4th Hospital of Hebei Medical University from January 1 1975 to December 31 1989. Because we also originally aimed to examine the difference in survival time, only older subjects with a long follow-up period were ***: Overall, patients with ESCC and a positive family history of the cancer had a significantly younger age at onset and more multiple primary cancers than those without a positive family history(51.83 ± 8.39 vs 53.49 ± 8.23 years old, P = 0.000; 5.50% vs 1.70%, P = 0.000). Both of these differences were evident in subgroup analyses, however, no correlations were observed. While age at onset differed significantly by family history in males, smokers, and drinkers, the difference in multiple primary cancers by family history was significant in nonsmoking, nondrinking, and younger onset patients. In multivariate analysis, age over 50 years, tobacco smoking, and multiple primary cancers were found to be significant predictors of familial cancer: the corresponding OR(95%CI) and P-value were 0.974(0.963-0.985) and 0.000; 1.271(1.053-1.535) and 0.012; and 4.265(2.535-7.176) and 0.000, ***: Patients with ESCC and a positive family history of the cancer had a significantly younger onset age and more multiple primary cancers than those without a positive family history. Sub-group analyses indicated that younger onset age may be due to the interaction of genetic predisposition and environmental hazards, and multiple primary cancers may only be due to genetic predisposition.

关键词： Esophageal squamous cell carcinoma Familial cancer Sporadic cancer age at onset Synchronous primary carcinoma

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