Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine

被引：171

作者：

Udler, Miriam S. ^{[1
,2
,3
,4
,5
]}

McCarthy, Mark, I ^{[6
,7
,8
]}

Florez, Jose C. ^{[1
,2
,3
,4
,5
]}

Mahajan, Anubha ^{[7
]}

机构：

[1] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA

[3] Broad Inst MIT & Harvard, Program Metab, Cambridge, MA 02142 USA

[4] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

[5] Harvard Med Sch, Dept Med, Boston, MA 02115 USA

[6] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford OX3 7LJ, England

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

[8] Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, Oxford NIHR Biomed Res Ctr, Oxford OX3 9DU, England

来源：

ENDOCRINE REVIEWS | 2019年 / 40卷 / 06期

基金：

美国国家卫生研究院; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; GENERAL-POPULATION; INSULIN-RESISTANCE; COMMON VARIANTS; HUMAN THYMUS; TWIN PAIRS; TYPE-1; PREDICTION; MELLITUS;

D O I：

10.1210/er.2019-00088

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

During the last decade, there have been substantial advances in the identification and characterization of DNA sequence variants associated with individual predisposition to type 1 and type 2 diabetes. As well as providing insights into the molecular, cellular, and physiological mechanisms involved in disease pathogenesis, these risk variants, when combined into a polygenic score, capture information on individual patterns of disease predisposition that have the potential to influence clinical management. In this review, we describe the various opportunities that polygenic scores provide: to predict diabetes risk, to support differential diagnosis, and to understand phenotypic and clinical heterogeneity. We also describe the challenges that will need to be overcome if this potential is to be fully realized.

引用

页码：1500 / 1520

页数：21

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