Translating associations between common kidney diseases and genetic variation into the clinic.
Translating associations between common kidney diseases and genetic variation into the clinic.
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DOI：
10.1016/j.semnephrol.2010.01.010
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发表时间：
2010-03
影响因子：
3.3
通讯作者：
Sedor, John R.
中科院分区：
文献类型：
--
作者：
Drawz, Paul E.;Sedor, John R.
对常见疾病的遗传学研究揭示了与终末期肾病、蛋白尿、血清肌酐、糖尿病、冠心病和甘油三酯升高相关的多种风险等位基因。这些关联促进了进一步的基础科学研究，从而发现了新的途径并更好地了解常见疾病的病理生理学。目前，将这些发现转化为临床实践的能力受到这些风险等位基因的影响较小以及缺乏证明遗传变异对风险评估和临床结果有意义影响的研究的限制。基因检测的进步将继续产生高度显着的关联，但转化为临床实践将需要医生与基础科学家和社会科学家之间的有效合作。严格的临床试验最终将揭示哪种基因测试组合可以改善风险分层，并确定最有可能从特定预防策略和治疗中受益的个体。
Studies of the genetics of common diseases have revealed multiple risk alleles associated with end-stage renal disease, albuminuria, serum creatinine, diabetes, coronary heart disease, and elevated triglycerides. These associations have prompted further basic science research, which has led to the discovery of novel pathways and a better understanding of the pathophysiology of common diseases. Currently, the ability to translate these discoveries into clinical practice is limited by the small effect size of these risk alleles and a lack of studies demonstrating meaningful impact of genetic variation on risk assessment and clinical outcomes. Advances in genetic testing will continue to yield highly significant associations but translation into clinical practice will require effective collaboration between physicians and basic and social scientists. Rigorous clinical trials will eventually reveal which combination of genetic tests improves risk stratification and identifies individuals most likely to benefit from specific prevention strategies and therapies.
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衡量心血管风险的个体预测因素的影响的进步：重新分类措施的作用。
影响因子：
39.2
作者：
Cook NR;Ridker PM
通讯作者：
Ridker PM
影响因子：
30.8
作者：
Kopp, Jeffrey B.;Smith, Michael W.;Nelson, George W.;Johnson, Randall C.;Freedman, Barry I.;Bowden, Donald W.;Oleksyk, Taras;McKenzie, Louise M.;Kajiyama, Hiroshi;Ahuja, Tejinder S.;Berns, Jeffrey S.;Briggs, William;Cho, Monique E.;Dart, Richard A.;Kimmel, Paul L.;Korbet, Stephen M.;Michel, Donna M.;Mokrzycki, Michele H.;Schelling, Jeffrey R.;Simon, Eric;Trachtman, Howard;Vlahov, David;Winkler, Cheryl A.
通讯作者：
Winkler, Cheryl A.
DOI：
10.1056/nejmra0808700
发表时间：
2009-04-23
期刊：
The New England journal of medicine
影响因子：
--
作者：
Hardy J;Singleton A
通讯作者：
Singleton A
影响因子：
19.6
作者：
Freedman, Barry I.;Hicks, Pamela J.;Bowden, Donald W.
通讯作者：
Bowden, Donald W.
影响因子：
13.2
作者：
Chen, Guanjie;Adeyemo, Adebowale A.;Rotimi, Charles
通讯作者：
Rotimi, Charles