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PRELIMINARY STUDIES ON ASSOCIATIONS OF IDDM3, IDDM4, IDDM5 AND IDDM8 WITH IDDM IN CHENGDU POPULATION

Chinese Medical Sciences Journal 2001年第2期16卷 120-122页

作者：阿周存张思仲肖翠英 Department of Medical Genetics First Affiliated Hospital West China University of Medical Sciences Chengdu 610041.

Objective. To study the associations of IDDM3, IDDM4, IDDM5 and IDDM8 with insulin- dependent diabetes mellitus (IDDM). Methods. The polymorphisms of short tandem repeat (STR) loci D15S657, D11S1369, D6S2420 and D6S503, linked to IDDM3, IDDM4, IDDM5 and IDDM8 respectively, were studied by polymerase chain reaction and polyacrylamide gel electrophoresis (PCR- PAGE) followed by direct sequencing of PCR products in 105 normal Chinese Han nationality subjects and 48 patients with IDDM. Results. The allele frequencies of allele A5 at D15S657 locus, allele A5 at D11S1369 locus and allele A4 at D6S2420 locus were increased significantly in patients with IDDM compared to those in the control group. No difference in the allele frequencies at D6S503 locus was observed between IDDM and control group. Conclusion. IDDM3, IDDM4 , IDDM5 but not IDDM8 may be associated with IDDM in Chinese Han nationality population.

关键词： short tandem repeats polymorphism susceptibility loci insulin- dependent diabetes mellitus

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Identification of new genetic risk factors for prostate cancer

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Asian Journal of Andrology 2009年第1期11卷 49-55页

作者： Michelle Guy Zsofia Kote-Jarai Graham G. Giles Ali Amin Al Olama Sarah K. Jugurnauth Shani Mulholland Daniel A. Leongamomlert Stephen M. Edwards Jonathan Morrison Helen I. Field Melissa C. Southey Gianluca Severi Jenny L. Donovan Freddie C. Hamdy David R Dearnaley Kenneth R. Muir Charmaine Smith Melisa Bagnato Audrey T. Ardern-Jones Amanda L. Hall Lynne T. O＇Brien Beatrice N. Gehr-Swain Rosemary A. Wilkinson Angela Cox Sarah Lewis Paul M. Brown Sameer G. Jhavar Malgorzata Tymrakiewicz Artitaya Lophatananon Sarah L. Bryant The UK Genetic Prostate Cancer Study Collaborators British Association of Urological Surgeons＇ Section of Oncology and The UK ProtecT Study Collaborators Alan Horwich Robert A. Huddart Vincent S. Khoo Christopher C. Parker Christopher J. Woodhouse Alan Thompson Tim Christmas Chris Ogden Cyril Fisher Charles Jameson Colin S. Cooper Dallas R. English John L. Hopper David E. Neal Douglas E Easton Rosalind A. Eeles Section of Cancer Genetics The Institute of Cancer Research Sutton Surrey SM2 5NG UK Cancer Epidemiology Centre The Cancer Council Victoria Carlton VIC 3053 Australia Centre for Molecular Environmental Genetic and Analytic Epidemiology The University of Melbourne Carlton VIC 3053 Australia Cancer Research UK Genetic Epidemiology Unit University of Cambridge Strangeways Laboratory Worts Causeway Cambridge CB1 8RN UK Department of Oncology University of Cambridge Strangeways Laboratory Worts Causeway Cambridge CB1 8RN UK Genetic Epidemiology Laboratory Department of Pathology The University of Melbourne Parkville VIC 3052 Australia Department of Social Medicine University of Bristol Bristol BS8 2PR UK Academic Urology Unit University of Sheffield Sheffield SIO 2JF UK The Royal Marsden NHS Foundation Trust Sutton Surrey SM2 5PT and London SW3 6JJ UK University of Nottingham Medical School Queens Medical Centre Nottingham NG7 2UH UK Institute for Cancer Studies University of Sheffield Sheffield SIO 2RX UK Surgical Oncology （Uro-Oncology S4） Departments of Oncology and Surgery University of Cambridge Addenbrooke＇s Hospital Cambridge CB2 2QQ UK A full list of authors is provided in the Supplementary Note online Ka Shing Centre Cambridge CB2 ORE UK Cancer Research UK Cambridge Research Institute Li Ka Shing Centre Cambridge CB2 ORE UK.

There is evidence that a substantial part of genetic predisposition to prostate cancer （PCa） may be due to lower penetrance genes which are found by genome-wide association studies. We have recently conducted such a study and seven new regions of the genome linked to PCa risk have been identified. Three of these loci contain candidate susceptibility genes： MSMB, LMTK2 and KLK2/3. The MSMB and KLK2/3 genes may be useful for PCa screening, and the LMTK2 gene might provide a potential therapeutic target. Together with results from other groups, there are now 23 germline genetic variants which have been reported. These results have the potential to be developed into a genetic test. However, we consider that marketing of tests to the public is premature, as PCa risk can not be evaluated fully at this stage and the appropriate screening protocols need to be developed. Follow-up validation studies, as well as studies to explore the psychological implications of genetic profile testing, will be vital prior to roll out into healthcare.

关键词： prostate cancer genetics susceptibility loci SNPs relative risks

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Cross-Cancer Analysis Reveals Novel Pleiotropic Associations with lung cancer

Cross-Cancer Analysis Reveals Novel Pleiotropic Associations...

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2019年中国肿瘤标志物学术大会暨第十三届肿瘤标志物青年科学家论坛

作者： Ji,Mengmeng Wang,Lijuan Zhu,Meng Wang,Yuzhuo Fan,Jingyi Sun,Qi Fan,Xikang Xie,Junxing Dai,Juncheng Jin,Guangfu Hu,Zhibin Ma,Hongxia Shen,Hongbing Department of Epidemiology and Biostatistics Center for Global HealthSchool of Public HealthNanjing Medical University Jiangsu Key Lab of Cancer Biomarkers Prevention and TreatmentCollaborative Innovation Center for Cancer MedicineNanjing Medical University

Background:Genome-wide association studies(GWASs) have identified hundreds of cancer-associated single nucleotide polymorphisms(SNPs),several of which have shown pleiotropic effects across ***,we performed a systematic cross-cancer analysis to investigate the effects of GWAS-identified pleiotropic risk variants on lung cancer ***:A comprehensive systematic review of publications on GWASs and cancers in PubMed was conducted to select SNPs using the Mesh Term ‘Genome-wide association study’ or ‘GWAS’ and ‘cancer’.The lung cancer objectives included 12,843 cases and 12,639 controls from four *** overall association between variant groups in each cancer and lung cancer risk was explored in SNP-set analysis,and then results of each SNP from four datasets was meta-analyzed using fixed-effect model for single SNP-level *** analyses were performed according to age,gender,smoking status and tumor *** last,we analyzed gene functional relevance and conducted a pathway enrichment analysis at ***:After excluding lung cancer GWAS locus as well as those in the same linkage disequilibrium(LD)blocks(r2>0.2),1,915 SNPs were identifiede to be related with more than 15 cancer ***-set analysis revealed the significant associations between common variants in 8 cancer types(including cervical/endometrial,bladder/renal,prostate,pancreatic,ovarian cancer,etc.) and lung *** variant analysis identified 6 novel SNPs associated with lung cancer risk after multiple correction(Pfdr<0.10),including rs1707302(1 p34.1,OR=0.93,95% CI:0.90-0.97),rs2516448(6 p21.33,OR=1.07,95% CI:1.03-1.11),rs3869062(6 p22.1,OR=0.91,95% CI:0.86-0.96),rs174549(11 q12.2,OR=0.90,95%CI:0.87-0.94,),rs7193541(16 q23.1,OR=0.93,95% CI:0.90-0.96) and rs8064454(17 q12,OR=1.07,95%CI:1.03-1.11).Subgroup analyses shown the association for rs3869062 showed heterogeneous among different tumor histology(Pheterogeneity<0.01),where the association appeare

关键词： Lung cancer genome-wide association studies pleiotropy susceptibility loci

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