Protective alleles and modifier variants in human health and disease

被引：96

作者：

Harper, Andrew R. ^{[1
,2
]}

Nayee, Shalini ^{[3
]}

Topol, Eric J. ^{[4
]}

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Oxford Univ Hosp NHS Fdn Trust, Oxford OX3 7BN, England

[3] Guys & St Thomas NHS Fdn Trust, Dept Oral Med, London SE1 9RT, England

[4] Scripps Res Inst, Scripps Translat Sci Inst, La Jolla, CA 92037 USA

来源：

NATURE REVIEWS GENETICS | 2015年 / 16卷 / 12期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; ANTI-INTERLEUKIN-17A MONOCLONAL-ANTIBODY; INCREASES BONE-FORMATION; OF-FUNCTION MUTATIONS; DOUBLE-BLIND; SCLEROSTIN ANTIBODY; CONGENITAL INSENSITIVITY; POSTMENOPAUSAL WOMEN; BLOOD CHOLESTEROL; REDUCING LIPIDS;

D O I：

10.1038/nrg4017

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The combination of next-generation sequencing technologies and high-throughput genotyping platforms has revolutionized the pursuit of genetic variants that contribute towards disease. Furthermore, these technologies have provided invaluable insight into the genetic factors that prevent individuals from developing disease. Exploiting the evolutionary mechanisms that were designed by nature to help prevent disease is an attractive line of enquiry. Such efforts have the potential to generate a therapeutic target roadmap and rejuvenate the current drug-discovery pathway. By delineating the genomic factors that are protective against disease, there is potential to derive highly effective, genomically anchored medicines that assist in maintaining health.

引用

页码：689 / 701

页数：13

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