Genetic Studies on Diabetic Microvascular Complications: Focusing on Genome-Wide Association Studies.
10.3803/EnM.2015.30.2.147
- Author:
Soo Heon KWAK
1
;
Kyong Soo PARK
Author Information
1. Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea. kspark@snu.ac.kr
- Publication Type:Review
- Keywords:
Diabetes;
Microvascular complication;
Retinopathy;
Nephropathy;
Neuropathy;
Genome-wide association study;
Genetics
- MeSH:
Amputation;
Diabetic Retinopathy;
Genetics;
Genome-Wide Association Study*;
Kidney Failure, Chronic;
Neuralgia;
Phenotype;
Prevalence;
Risk Factors;
Sample Size
- From:Endocrinology and Metabolism
2015;30(2):147-158
- CountryRepublic of Korea
- Language:English
-
Abstract:
Diabetes is a common metabolic disorder with a worldwide prevalence of 8.3% and is the leading cause of visual loss, end-stage renal disease and amputation. Recently, genome-wide association studies (GWASs) have identified genetic risk factors for diabetic microvascular complications of retinopathy, nephropathy, and neuropathy. We summarized the recent findings of GWASs on diabetic microvascular complications and highlighted the challenges and our opinion on future directives. Five GWASs were conducted on diabetic retinopathy, nine on nephropathy, and one on neuropathic pain. The majority of recent GWASs were underpowered and heterogeneous in terms of study design, inclusion criteria and phenotype definition. Therefore, few reached the genome-wide significance threshold and the findings were inconsistent across the studies. Recent GWASs provided novel information on genetic risk factors and the possible pathophysiology of diabetic microvascular complications. However, further collaborative efforts to standardize phenotype definition and increase sample size are necessary for successful genetic studies on diabetic microvascular complications.
