Personalized medicine in diabetes mellitus: current opportunities and future prospects

被引:73
作者
Kleinberger, Jeffrey W.
Pollin, Toni I.
机构
[1] Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA
[2] Univ Maryland, Sch Med, Program Personalized & Genom Med, Dept Med, Baltimore, MD 21201 USA
来源
COMPANION DIAGNOSTICS: FROM BIOMARKER IDENTIFICATION TO MARKET ENTRY | 2015年 / 1346卷
关键词
monogenic diabetes; type; 2; diabetes; pharmacogenetics; gene-environment interaction; pharmacogenomics; ORAL ANTIDIABETIC DRUGS; OF-FUNCTION MUTATIONS; GENETIC-VARIATION; GLYCEMIC CONTROL; CLINICAL PHARMACOKINETICS; SEVERE HYPOGLYCEMIA; SECONDARY FAILURE; GLUCOKINASE GENE; INCREASED RISK; YOUNG MODY;
D O I
10.1111/nyas.12757
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Diabetes mellitus affects approximately 382 million individuals worldwide and is a leading cause of morbidity and mortality. Over 40 and nearly 80 genetic loci influencing susceptibility to type 1 and type 2 diabetes, respectively, have been identified. In addition, there is emerging evidence that some genetic variants help to predict response to treatment. Other variants confer apparent protection from diabetes or its complications and may lead to development of novel treatment approaches. Currently, there is clear clinical utility to genetic testing to find the at least 1% of diabetic individuals who have monogenic diabetes (e.g., maturity-onset diabetes of the young and KATP channel neonatal diabetes). Diagnosing many of these currently underdiagnosed types of diabetes enables personalized treatment, resulting in improved and less invasive glucose control, better prediction of prognosis, and enhanced familial risk assessment. Efforts to enhance the rate of detection, diagnosis, and personalized treatment of individuals with monogenic diabetes should set the stage for effective clinical translation of current genetic, pharmacogenetic, and pharmacogenomic research of more complex forms of diabetes.
引用
收藏
页码:45 / 56
页数:12
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