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Genetics of HbA1c: a case study in clinical translation.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Leong, Aaron 

Abstract

Glycated hemoglobin (HbA1c) measures the amount of glucose in the blood in the previous 2-3 months and is used to test whether an individual has diabetes (HbA1c≥6.5%), or how well they are managing their diabetes. Genome-wide association studies have successfully identified multiple genomic loci influencing HbA1c, through both glycemic (factors that affect the amount blood glucose levels) and erythrocytic (factors that affect the red blood cell) pathways. Inaccuracies in HbA1c, due to non-glycemic variants, could lead to suboptimal care or adverse health consequences. A recently published example is the erythrocytic variant (rs1050828) in G6PD, which leads to the artificial lowering of HbA1c and missed diagnosis of diabetes using current thresholds. In this review we will discuss recent insights into the genetic etiology of HbA1c, and how these can translate to the clinic.

Description

Keywords

Blood Glucose, Diabetes Mellitus, Type 2, Erythrocytes, Genome-Wide Association Study, Glycated Hemoglobin, Humans, Signal Transduction, Translational Research, Biomedical

Journal Title

Curr Opin Genet Dev

Conference Name

Journal ISSN

0959-437X
1879-0380

Volume Title

50

Publisher

Elsevier BV