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| 1 | 儿童和青少年糖尿病的精准医学研究进展显示文摘儿童和青少年糖尿病患病率在全球呈逐年上涨趋势。由于发病年龄早、病程较成人糖尿病严重,易致肾功能衰竭、失明和截肢等糖尿病并发症,儿童和青少年发病的糖尿病应得到更多的关注。儿童和青少年糖尿病主要有三种类型:1型糖尿病(T1DM)、2型糖尿病(T2DM)和单基因突变糖尿病。对三种类型糖尿病的准确分型是临床诊疗的基础,而当前临床常见问题是,临床资料不足以对这三种类型糖尿病在儿童和青少年中进行鉴别诊断。未成年、无肥胖的糖尿病患者常常被诊断为T1DM,其中有些患者实为T2DM或单基因突变糖尿病。由于T1DM在中国儿童和青少年中远低于高加索人群,误诊问题可能更为严重,基于基因检测的精准医学途径为解决这一难题提供了办法。 | 屈会起 田立峰 Hakon Hakonarson | 2019 | 中华糖尿病杂志2019，11，4： | 5 |
| 2 | Application of computational methods in genetic study ofinflammatory bowel disease显示文摘Genetic factors play an important role in the etiology of inflammatory bowel disease(IBD). The launch of genome-wide association study(GWAS) represents a landmark in the genetic study of human complex disease. Concurrently, computational methods have undergone rapid development during the past a few years, which led to the identification of numerous disease susceptibility loci. IBD is one of the successful examples of GWAS and related analyses. A total of 163 genetic loci and multiple signaling pathways have been identified to be associated with IBD. Pleiotropic effects were found for many of these loci; and risk prediction models were built based on a broad spectrum of genetic variants. Important gene-gene, gene-environment interactions and key contributions of gut microbiome are being discovered. Here we will review the different types of analyses that have been applied to IBD genetic study, discuss the computational methods for each type of analysis, and summarize the discoveries made in IBD research with the application of these methods. | Jin Li Zhi Wei Hakon Hakonarson | 2016 | World Journal of Gastroenterology2016，22，3： | 2 |
| 3 | 腰臀比性状的全基因组通路关联分析研究显示文摘目的:通过对欧洲裔美国人群腰臀比性状进行全基因组通路关联分析研究,以期寻找与腰臀比性状相关的信号通路。方法:以700例腹型肥胖患者(病例组)和358例正常人群(对照组)为研究对象,利用改良的基因富集分析法(Gen Gen软件)在全基因组大约550 000个SNP位点,1 347条通路/基因集合中对腰臀比性状进行全基因组通路关联分析。结果:腰臀比二分类变量(病例/对照)分析结果显示,65条通路/基因集合达到显著水平(empirical P<0.05),其中ras Pathway(empirical P=0.003,FDR=0.238)最为显著,该通路相关基因也包含于ceramide Pathway(empirical P=0.004,FDR=0.196)和hcmv Pathway(empirical P=0.005,FDR=0.203)信号通路中。结论:Ras信号通路可能与欧洲裔中美国人群的腰臀比性状相关。 | 张苗苗 Struan Grant Hakon Hakonarson R.Arlen Price 张愿 李卫东 焦红肖 | 2018 | 天津医科大学学报2018，24，2： | 2 |
| 4 | 糖尿病精准医学的现状与展望显示文摘精准医学是综合考虑每个人的基因、环境和生活方式的一种新的疾病治疗和预防理念,发展精准医学的背景是人类基因组学研究的迅猛发展。近年来遗传学和人类基因组学研究进展极大地促进了各种类型糖尿病的精准诊断和精准治疗。发展糖尿病精准医学要基于现有的循证医学标准,并努力应用医学大数据进行改进。本文就这一重要主题进行了综述。 | 屈会起 田立峰 Hakonarson Hakon | 2019 | 中华医学杂志2019，99，16： | 2 |
| 5 | ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data显示文摘 | Wang K Li M Hakonarson H | 2010 | Nucleic Acids Res2010，38，16： | 1 |
| 6 | ANNOVAR: functional annotation of genetic variants from high - throughput se- quencing data显示文摘 | Wang K Li M Hakonarson H | 2010 | Nucleic Acids Research2010，38，16： | 1 |
| 7 | ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data显示文摘 | Wang K Li M Hakonarson H | 2010 | Nucleic Acids Res2010，38，16： | 1 |
| 8 | Altered expression and action of the low-affinity IgE receptor FcsRII(CD23)in asthmatic airway smooth muscle显示文摘 | Hakonarson H Carter C Kim C | 1999 | J Allergy Clin Immunol1999，104，3： | 1 |
| 9 | Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients 显示文摘 | Hakonarson H Bjomsdottir US Halapi E | 2005 | Proc Natl Acad Sci U S A2005，102，14： | 1 |
| 10 | Effects of a 5-lipoxygenase -activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial显示文摘 | HAKONARSON H THORVALDSSON S HEL-GADOTTIR A | 2005 | JAMA2005，293，： | 1 |
| 11 | Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults显示文摘 | Grant SF Hakonarson H Schwartz S | | 0，，02： | 1 |
| 12 | Association between the Gene Encoding 5-Lipoxygenase–Activating Protein and Stroke Replicated in a Scottish Population显示文摘 | A. Helgadottir S. Gretarsdottir D. St. Clair A. Manolescu J. Cheung G. Thorleifsson A. Pasdar S.F.A. Grant L.J. Whalley H. Hakonarson U. Thorsteinsdottir A. Kong J. Gulcher K. Stefansson M.J. MacLeod | 2005 | The American Journal of Human Genetics2005，，3： | 1 |
| 13 | Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients显示文摘 | Hakonarson H Bjornsdottir US Halapi E | 2005 | Proc Natl Acad Sci USA2005，102，14： | 1 |
| 14 | Genetic polymorphisms and associated susceptibility to asthma显示文摘 | March ME Sleiman PM Hakonarson H | 2013 | Int J Gen Med2013，，6： | 1 |
| 15 | IL-13-dependent autocrine signaling mediates altered responsiveness of IgE-sensitized airway smooth muscle显示文摘 | Grunstein MM Hakonarson H Leiter J | 2002 | Am J Physiol Lung Cell Mol Physiol2002，28，2： | 1 |
| 16 | The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI显示文摘 | Zhao J Bradfield J P Li M Wang K Zhang H Kim C E Annaiah K Glessner J T Thomas K Garris M Frackelton E C Otieno F G Shaner J L Smith R M Chiavacci R M Berkowitz R I Hakonarson H and Grant S F | | 0，，12： | 1 |
| 17 | Association between IL-1 β/TNF- α -Induced glucocorticoid-sensitive changes in multiple gene expression and altered responsiveness in Airway smooth muscle 显示文摘 | Hakonarson H Halapi E Whelan R | 2001 | Am J Respir Cell Mol Biol2001，25，6： | 1 |
| 18 | Bi-directional activation between human airway smooth muscle ceils and T lymphoeytes: role in induction of altered airway responsiveness显示文摘 | Hakonarson H Kim C Whelan R | 2001 | J Immunol2001，166，： | 1 |
| 19 | Analyzing biologicalpathways in genome-wide association studies显示文摘 | WANG K LI M Y HAKONARSON H | 2010 | Nature ReviewsGenetics2010，11，12： | 1 |
| 20 | Association between IL-1 beta/TNF-alpha-induced glucocorticoid - sensitive changes in multiple gene expression and altered responsiveness in airway smooth muscle 显示文摘 | Hakonarson H Halapi E Whelan R | 2001 | Am J Respir Cell Mol Biol2001，25，： | 1 |
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