Phenotypic and genetic classification of diabetes

被引：57

作者：

Deutsch, Aaron J. ^{[1
,2
,3
,4
,5
]}

Ahlqvist, Emma ^{[6
]}

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

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, Program Med & Populat Genet, Boston, MA 02142 USA

[4] Broad Inst, Program Metab, Boston, MA 02142 USA

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

[6] Lund Univ, Ctr Diabet, Dept Clin Sci Malmo, Gen Diabet & Endocrinol, Malmo, Sweden

来源：

DIABETOLOGIA | 2022年 / 65卷 / 11期

基金：

瑞典研究理事会;

关键词：

Cluster analysis; Disease subtypes; Genetics; MODY; Personalised medicine; Polygenic score; Precision medicine; Review; Type; 1; diabetes; 2; RISK SCORE; PRECISION MEDICINE; ONSET; TYPE-1; YOUNG; ASSOCIATION; HETEROGENEITY; INDIVIDUALS; ANTIBODIES; SUBGROUPS;

D O I：

10.1007/s00125-022-05769-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The historical subclassification of diabetes into predominantly types 1 and 2 is well appreciated to inadequately capture the heterogeneity seen in patient presentations, disease course, response to therapy and disease complications. This review summarises proposed data-driven approaches to further refine diabetes subtypes using clinical phenotypes and/or genetic information. We highlight the benefits as well as the limitations of these subclassification schemas, including practical barriers to their implementation that would need to be overcome before incorporation into clinical practice.

引用

页码：1758 / 1769

页数：12

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