Genetics in liver disease: new concepts
Genetics in liver disease: new concepts
复制标题
肝病遗传学：新概念
DOI：
10.1097/mog.0b013e3283444862
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发表时间：
2011
影响因子：
2.5
通讯作者：
F. Lammert
中科院分区：
文献类型：
--
作者：
V. Zimmer;F. Lammert
综述目的基因分型技术的最新进展有助于加速传播与肝胆疾病和/或数量性状相关的序列变异信息。自2007年第一个关于遗传性胆结石风险的全基因组关联研究（GWAS）以来，共有超过25个与该领域相关的GWAS被报道。IL-28 B基因型作为丙型肝炎病毒感染的自然和治疗相关结果的关键宿主因素的鉴定开辟了个性化医疗和遗传信息个体风险评估的途径。相比之下，与肝脏脂肪含量和纤维化进展相关的第二个最近的热门变体脂核素（PNPLA 3）说明了GWAS识别新的病理生物学途径的潜力。另一个新兴的研究主题是指定特定的腹膜炎相关并发症的遗传标记，如自发性细菌性腹膜炎（NOD 2）和肝性脑病（转氨酶），在优先考虑患者的先发制人的治疗策略的潜在未来的相关性。在这篇文章中，我们批判性地讨论了肝胆疾病遗传学的新概念，特别关注GWAS方法的优点和局限性。将提供有关最近GWAS和选定候选基因研究数据的更新。
Purpose of review Recent advancements in genotyping technology have contributed to an accelerated dissemination of information on sequence variation associated with hepatobiliary diseases and/or quantitative traits. Recent findings Since the first genome-wide association study (GWAS) on genetic gallstone risk in 2007, a total of more than 25 GWAS related to the field have been reported. The identification of the IL-28B genotype as a critical host factor of natural and treatment-related outcomes in hepatitis C virus infection opens the avenue of personalized medicine and individual risk assessment by genetic information. By contrast, the second recent top-hit variant adiponutrin (PNPLA3) associated with liver fat content and fibrosis progression illustrates the potential of GWAS to identify novel pathobiological pathways. Another emerging research topic is in the designation of genetic markers for specific cirrhosis-related complications, such as spontaneous bacterial peritonitis (NOD2) and hepatic encephalopathy (glutaminase), of potential future relevance in prioritizing patients for preemptive treatment strategies. Summary In this article we critically discuss new concepts in the genetics of hepatobiliary diseases with a special focus on the advantages and limitations of the GWAS approach. An update on relevant recent GWAS and selected candidate gene study data will be given.
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影响因子：
29.4
作者：
McCarthy JJ;Li JH;Thompson A;Suchindran S;Lao XQ;Patel K;Tillmann HL;Muir AJ;McHutchison JG
通讯作者：
McHutchison JG
影响因子：
30.8
作者：
Buch, Stephan;Schafmayer, Clemens;Hampe, Jochen
通讯作者：
Hampe, Jochen
影响因子：
29.4
作者：
Chalasani N;Guo X;Loomba R;Goodarzi MO;Haritunians T;Kwon S;Cui J;Taylor KD;Wilson L;Cummings OW;Chen YD;Rotter JI;Nonalcoholic Steatohepatitis Clinical Research Network
通讯作者：
Nonalcoholic Steatohepatitis Clinical Research Network
DOI：
10.1056/nejmoa0810440
发表时间：
2009-06-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Hirschfield GM;Liu X;Xu C;Lu Y;Xie G;Lu Y;Gu X;Walker EJ;Jing K;Juran BD;Mason AL;Myers RP;Peltekian KM;Ghent CN;Coltescu C;Atkinson EJ;Heathcote EJ;Lazaridis KN;Amos CI;Siminovitch KA
通讯作者：
Siminovitch KA
DOI：
10.1056/nejmoa0907295
发表时间：
2010-03-25
期刊：
The New England journal of medicine
影响因子：
--
作者：
Petersen KF;Dufour S;Hariri A;Nelson-Williams C;Foo JN;Zhang XM;Dziura J;Lifton RP;Shulman GI
通讯作者：
Shulman GI