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Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma

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Frontiers of Medicine 2021年第2期15卷 275-291页

作者： Na Qin yuancheng Li Cheng Wang Meng zhu Juncheng Dai Tongtong Hong Demetrius Albanes Stephen Lam Adonina Tardon Chu Chen Gary Goodman Stig EBojesen Maria Teresa Landi Mattias Johansson Angela Risch H-Erich Wichmann Heike Bickeboller Gadi Rennert Susanne Arnold paul Brennan John KField Sanjay Shete Loic Le Marchand Olle Melander Hans Brunnstrom Geoffrey Liu Rayjean JHung Angeline Andrew Lambertus AKiemeney Shan zienolddiny Kjell Grankvist Mikael Johansson Neil Caporaso penella Woll philip Lazarus Matthew BSchabath Melinda CAldrich Victoria LStevens Guangfu Jin David CChristiani zhibin Hu Christopher iAmos Hongxia Ma Hongbing Shen Department of Epidemiology Center for Global HealthSchool of Public HealthNanjing Medical UniversityNanjing 211166China State Key Laboratory of Reproductive Medicine Center for Global HealthNanjing Medical UniversityNanjing 211166China Department of Bioinformatics School of Biomedical Engineering and InformaticsNanjing Medical UniversityNanjing 211166China Jiangsu Key Lab of Cancer Biomarkers Prevention and TreatmentCollaborative Innovation Center for Cancer MedicineNanjing Medical UniversityNanjing 211166China China international Cooperation Center for Environment and Human Health School of Public HealthNanjing Medical UniversityNanjing 211166China Division of Cancer Epidemiology and Genetics National Cancer InstituteBethesdaMD 20892-9304USA Department of integrative Oncology British Columbia Cancer AgencyVancouverBC V5Z 1L3Canada Faculty of Medicine University of Oviedo and CIBERESPOviedo 33006Spain program in Epidemiology Public Health Sciences DivisionFred Hutchinson Cancer Research CenterSeattleWA 98109-1024USA public Health Sciences Division Swedish Cancer InstituteSeattleWA 98026USA Department of Clinical Biochemistry Copenhagen University HospitalCopenhagen DK-1017Denmark National Cancer institute BethesdaMD 20892-9304USA Genetic Epidemiology Group International Agency for Research on CancerLyon 69372France Cancer Center Cluster Salzburg at pLUS Department of Molecular BiologyUniversity of SalzburgHeidelberg 5020Austria institute of Medical informatics Biometry and EpidemiologyChair of EpidemiologyLudwig Maximilians UniversityMunichBavaria 80539Germany Department of Genetic Epidemiology University Medical Center GoettingenGoettingen 37075Germany Technion Faculty of Medicine Carmel Medical CenterHaifa 3448516Israel Markey Cancer Center University of KentuckyLexingtonKY 40506-0054USA Department of Molecular and Clinical Cancer Medicine Roy Castle Lung Cancer Research ProgrammeThe University of Liverpool Institute of Translational MedicineLiverpool L697Z

Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer(NSCLC)risk,biological mechanisms of these variants remain largely *** integrating a large-scale genotype data of 15581 lung adenocarcinoma(AD)cases,8350 squamous cell carcinoma(SqCC)cases,and 27355 controls,as well as multiple transcriptome and epigenomic databases,we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility *** identified 3064 credible risk variants for NSCLC,which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase i hypersensitive *** factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was *** annotation and genebased analysis implicated 894 target genes,including 274 specifics for AD and 123 for SqCC,which were overrepresented in somatic driver genes(ER=1.95,p=0.005).pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways,while SqCC genes were homologous recombination deficiency *** results illustrate the molecular basis of both wellstudied and new susceptibility loci of NSCLC,providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.

关键词： lung cancer genome-wide association study function annotation immune homologous recombination repair deficiency genetic heterogeneity

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冠状动脉快速千伏切换单源双能CT成像

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国际医学放射学杂志 2013年第6期 571-571页

作者： A.S.Jonathan J.M.O'Brien p.E.Earls J.K.Min T.M.LaBounty R.C.Cury 徐国萍 Department of Medical imaging St.Paul’s Hospital 1081 Burrard StVancouver BC Canada V6Z 1Y6

摘要目的评价双能CT降低冠状动脉CT血管成像束硬化(BH)伪影的能力,确定在双能CT中冠状动脉和心肌最佳的单色能量水平信噪比(SNR)和对比噪声比(CNR),并与

关键词：冠状动脉 CNR SNR 双能 CT

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血浆置换治疗儿童溶血尿毒综合征多中心流行病学调查

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中华实用儿科临床杂志 2018年第13期33卷 1022-1027页

作者：中国医师协会儿科医师分会血液净化专家委员会郑悦徐可雷晔飞冯仕品王墨郝志宏高岩李宇红周萍肖政辉赵凯妹夏正坤栾春丽刘雪梅赵丽君陆国平张育才陈朝英栾江威张建江刘翠华陈丽植赵成广吴玉斌姚勇曲强谢敏刘喜万俊丽焦佳石咏琪杨琴于力张瑶李颖杰许自川蒋新辉邵晓珊张思佳卢秀兰张岩马青山何旭史卓李倩孙书珍张洪霞潘艳艳仇三玲蔡小狄徐虹朱艳史婧奕耿海云祝高红戚畅贾莉敏刘俊梅厉洪江李广波蒋小云不详中国医科大学附属盛京医院小儿肾脏风湿免疫科沈阳110004 北京大学第一医院儿科 100034 郴州市第一人民医院儿科湖南郴州423000 成都市妇女儿童中心医院肾内科 610091 重庆医科大学附属儿童医院肾脏免疫科 400014 广州市第一人民医院儿科 510180 广州市妇女儿童医疗中心肾内科 510120 贵阳市儿童医院肾脏风湿科 550003 哈尔滨医科大学附属第二医院儿科 150086 湖南省儿童医院急救中心长沙410007 吉林大学白求恩第一医院儿童肾病科吉林130021 南京军区南京总医院儿科 210002 山东大学附属省立医院儿科肾脏风湿免疫科济南250021 山东大学齐鲁儿童医院肾内科济南250022 山西省儿童医院肾内科太原030013 复旦大学附属儿科医院重症医学科上海201102 上海市儿童医院重症医学科 200042 首都儿科研究所附属儿童医院肾内科 100020 武汉儿童医院肾内科 430016 郑州大学第一附属医院儿内科 450052 郑州大学附属儿童医院肾脏风湿科 450018 中山大学附属第一医院儿科广州510080

目的了解全国儿科血浆置换治疗溶血尿毒综合征（HUS）的现状，为进一步规范诊疗共识提供参考依据。方法中国医师协会儿科医师分会血液净化专家委员会讨论并制定调查表，以问卷调查的形式，收集22家单位2012年1月至2017年12月住院的146... 详细信息

目的了解全国儿科血浆置换治疗溶血尿毒综合征（HUS）的现状，为进一步规范诊疗共识提供参考依据。方法中国医师协会儿科医师分会血液净化专家委员会讨论并制定调查表，以问卷调查的形式，收集22家单位2012年1月至2017年12月住院的146例行血浆置换的HUS患儿的病历资料进行统计学分析。结果1．共收集数据146例，其中男91例，女55例；平均年龄5.68岁（2个月～18岁）；病因主要为感染（60例，41.1%），其次为补体缺陷（18例，12.3%）、药物（15例，10.3%）、风湿性疾病（9例，6.2%）及遗传代谢病（6例，4.1%）等。2.血液置换前患儿主要表现为少尿或无尿（101例），其次为意识障碍（45例）、高血压（58例）、消化道出血（42例）等症状，置换后明显缓解。3.血浆置换前实验室指标主要表现为血红蛋白[（68.26±18.17） g/L]、红细胞计数[（2.43±0.70） ×10^9/L]、血小板计数[（77.49±72.93） ×10^9/L]、补体C3[（0.70±0.26） g/L]、肾小球滤过率（GFR） [（26.98±17.16） mL/1.73 m2]下降，总胆红素[（44.33±42.07） μmol/L]、非结合胆红素[（30.78±26.68） μmol/L]、纤维蛋白降解产物（FDp）[（12.52±14.97） mg/L]、D-二聚体[（2 306.20±2 354.97） μg/L]、肌酐[（305.45±290.19） μmol/L]、24 h尿蛋白[（2.17±2.55） g/d]升高，置换后以上指标均显著好转[分别为（85.08±18.98） g/L、（2.80±0.98）×10^9/L、（183.80±131.95）×10^9/L、（0.85±0.25） g/L、（98.58±66.02） mL/1.73 m2、（19.71±33.24） μmol/L、（9.60±10.00） μmol/L、（7.33±9.81） mg/L、（1 322.05±1 595.23） μg/L、（139.28±163.75） μmol/L、（1.46±2.03） g/d]，差异均有统计学意义（均p〈0.05）。4.出现并发症5例，2例低血压休克，管路堵塞、血小板减少、贫血加重各1例。5.经治疗后好转130例（89%），死亡16例（11%）。结论血浆置换治疗儿童HUS在国内已较广泛开展，有效性和安全性已得到证实，其治疗时机有待循证医学进一步证实。

关键词：溶血尿毒综合征血浆置换儿童流行病学

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Fungal diversity notes 367-490:taxonomic and phylogenetic contributions to fungal taxa

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Fungal Diversity 2016年第5期80卷 1-270页

作者： Kevin D.Hyde Sinang Hongsanan Rajesh Jeewon D.Jayarama Bhat Eric H.C.McKenzie E.B.Gareth Jones Rungtiwa phookamsak Hiran A.Ariyawansa Saranyaphat Boonmee Qi zhao Faten Awad Abdel-Aziz Mohamed A.Abdel-Wahab Supharat Banmai putarak Chomnunti Bao-Kai Cui Dinushani A.Daranagama Kanad Das Monika C.Dayarathne Nimali ide Silva Asha J.Dissanayake Mingkwan Doilom Anusha H.Ekanayaka Tatiana Baptista Gibertoni Aristóteles Góes-Neto Shi-Ke Huang Subashini C.Jayasiri Ruvishika S.Jayawardena Sirinapa Konta Hyang Burm Lee Wen-Jing Li Chuan-Gen Lin Jian-Kui Liu yong-zhong Lu zong-Long Luo ishara S.Manawasinghe patinjareveettil Manimohan Ausana Mapook Tuula Niskanen Chada Norphanphoun Moslem papizadeh Rekhani H.perera Chayanard phukhamsakda Christian Richter AndréL.C.Mde A.Santiago E.Ricardo Drechsler-Santos indunil C.Senanayake Kazuaki Tanaka T.M.D.S.Tennakoon Kasun M.Thambugala Qing Tian Saowaluck Tibpromma Benjarong Thongbai Alfredo Vizzini Dhanushka N.Wanasinghe Nalin N.Wijayawardene Hai-Xia Wu Jing yang Xiang-yu zeng Huang zhang Jin-Feng zhang Timur S.Bulgakov Erio Camporesi Ali H.Bahkali Mohammad A.Amoozegar Lidia Silva Araujo-Neta Joseph F.Ammirati Abhishek Baghela R.p.Bhatt Dimitar Bojantchev Bart Buyck Gladstone Alves da Silva Catarina Letícia Ferreira de Lima Rafael JoséVilela de Oliveira Carlos Alberto Fragoso de Souza yu-Cheng Dai Bálint Dima Tham Thi Duong Enrico Ercole Fernando Mafalda-Freire Aniket Ghosh Akira Hashimoto Sutakorn Kamolhan Ji-Chuan Kang Samantha C.Karunarathna paul M.Kirk ilkka Kytovuori Angela Lantieri Kare Liimatainen zuo-yi Liu Xing-zhong Liu Robert Lücking Gianfranco Medardi peter E.Mortimer Thi Thuong Thuong Nguyen itthayakorn promputtha K.N.Anil Raj Mateus A.Reck Saisamorn Lumyong Seyed Abolhassan Shahzadeh-Fazeli Marc Stadler Mohammad Reza Soudi Hong-yan Su Takumasa Takahashi Narumon Tangthirasunun priyanka Uniyal yong Wang Ting-Chi Wen Jian-Chu Xu zhong-Kai zhang yong-Chang zhao Jun-Liang zhou Lin zhu institute of Biotechnology and Germplasm Resources Key Lab of Southwestern Crop Gene Resources and Germplasm Innovation Ministry of AgricultureYunnan Provincial Key Laboratory of Agricultural BiotechnologyYunnan Academy of Agricultural SciencesKunming 650223YunnanPeople’s Republic of China Key Laboratory of plant Diversity and Biogeography of East Asia Kunming Institute of BotanyChinese Academy of SciencesKunming 650201YunnanPeople’s Republic of China Center of Excellence in Fungal Research Mae Fah Luang University333 M.1T.ThasudMuangChiang Rai 57100Thailand State Key Laboratory of Mycology Institute of MicrobiologyChinese Academy of SciencesNo 31st West Beichen RoadChaoyang DistrictBeijing 100101People’s Republic of China Department of Botany and Microbiology College of ScienceKing Saud UniversityP.O.Box:2455Riyadh1145Saudi Arabia Department of Botany and Microbiology Faculty of ScienceSohag UniversitySohag 82524Egypt Faculty of Agriculture and Life Sciences Hirosaki University3 Bunkyo-choHirosakiAomori 036-8561Japan The United Graduate School of Agricultural Sciences Iwate University18-8 Ueda 3 ChomeMorioka 020-8550Japan Guizhou Key Laboratory of Agricultural Biotechnology Guizhou Academy of Agricultural SciencesXiaohe DistrictGuiyang CityGuizhou Province 550006People’s Republic of China School of Science Mae Fah Luang UniversityChiang Rai 57100Thailand Department of plant pathology College of AgricultureGuizhou UniversityGuiyang 550025GuizhouPeople’s Republic of China Department of Botany Goa UniversityTaleigãoGoaIndia No.128/1-J Azad Housing SocietyCurcaGoa Velha 403108India Department of Biology Faculty of ScienceChiang Mai UniversityChiang Mai 50200Thailand World Agroforestry Centre East and Central AsiaKunming 650201YunnanPeople’s Republic of China Centre of Mountain Ecosystem Studies Kunming Institute of BotanyChinese Academy of SciencesKunming 650201YunnanPeople’s Republic of China Department of Microbial Drugs Helmholtz Centre for Infection Res

This is a continuity of a series of taxonomic papers where materials are examined,described and novel combinations are proposed where necessary to improve our traditional species concepts and provide updates on their *** addition to extensive morphological descriptions and appropriate asexual and sexual connections,DNA sequence data are also analysed from concatenated datasets(rDNA,TEF-a,RBp2 and b-Tubulin)to infer phylogenetic relationships and substantiate systematic position of taxa within appropriate *** new species or combinations are being proposed,we apply an integrative approach(morphological and molecular data as well as ecological features wherever applicable).Notes on 125 fungal taxa are compiled in this paper,including eight new genera,101 new species,two new combinations,one neotype,four reference specimens,new host or distribution records for eight species and one alternative *** new genera introduced in this paper are Alloarthopyrenia,Arundellina,Camarosporioides,Neomassaria,Neomassarina,Neotruncatella,paracapsulospora and *** new species are Alfaria spartii,Alloarthopyrenia italica,Anthostomella ravenna,***,Arthrinium paraphaeospermum,Arundellina typhae,Aspergillus koreanus,Asterina cynometrae,Bertiella ellipsoidea,Blastophorum aquaticum,Cainia globosa,Camarosporioides phragmitis,Ceramothyrium menglunense,Chaetosphaeronema achilleae,Chlamydotubeufia helicospora,Ciliochorella phanericola,Clavulinopsis aurantiaca,Colletotrichum insertae,Comoclathris italica,Coronophora myricoides,Cortinarius fulvescentoideus,***,***,***,Cunninghamella gigacellularis,Cyathus pyristriatus,Cytospora cotini,Dematiopleospora alliariae,***,Diaporthe aseana,***,Distoseptispora multiseptata,***,***,Dothiora buxi,Emericellopsis persica,Gloniopsis calami,Helicoma guttulatum,Helvella floriforma,***,Hermatomyces subiculosa,Ju

关键词： Ascomycota Basidiomycota Dothideomycetes Mortierellomycotina Mucoromycotina pezizomycetes phylogeny Taxonomy New genus New species New host records

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