Article: Microvascular and macrovascular complications of type 2 diabetes mellitus: Exome wide association analyses.
2023 Volume 14, Page(s) 1143067
Abstract: Background: Type 2 diabetes mellitus (T2DM) is a chronic, metabolic disorder in which concomitant insulin resistance and β-cell impairment lead to hyperglycemia, influenced by genetic and environmental factors. T2DM is associated with long-term ... ...
| Abstract | Background: Type 2 diabetes mellitus (T2DM) is a chronic, metabolic disorder in which concomitant insulin resistance and β-cell impairment lead to hyperglycemia, influenced by genetic and environmental factors. T2DM is associated with long-term complications that have contributed to the burden of morbidity and mortality worldwide. The objective of this manuscript is to conduct an Exome-Wide Association Study (EWAS) on T2DM Emirati individuals to improve our understanding on diabetes-related complications to improve early diagnostic methods and treatment strategies. Methods: This cross-sectional study recruited 310 Emirati participants that were stratified according to their medically diagnosed diabetes-related complications: diabetic retinopathy, diabetic neuropathy, diabetic nephropathy, and cardiovascular complications. The Illumina's Infinium Exome-24 array was used and 39,840 SNPs remained for analysis after quality control. Findings: The analysis revealed the associations of various genes with each complication category: 1) diabetic retinopathy was associated to Interpretation: We have identified susceptibility loci associated with each category of T2DM-related complications in the Emirati population. Given that only 16% of the markers from the Illumina's Infinium Exome chip passed quality control assessment, this demonstrates that multiple variants were, either, monomorphic in the Arab population or were not genotyped due to the use of a Euro-centric EWAS array that limits the possibility of including targeted ethnic-specific SNPs. Our results suggest the alarming possibility that lack of representation in reference panels could inhibit discovery of functionally important loci associated to T2DM complications. Further effort must be conducted to improve the representation of diverse populations in genotyping and sequencing studies. |
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| MeSH term(s) | Humans ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/epidemiology ; Diabetic Nephropathies/epidemiology ; Cross-Sectional Studies ; Exome/genetics ; Diabetic Retinopathy/genetics ; Diabetic Retinopathy/epidemiology ; Diabetic Neuropathies/etiology ; HSP70 Heat-Shock Proteins/genetics |
| Chemical Substances | HSPA12B protein, human ; HSP70 Heat-Shock Proteins |
| Language | English |
| Publishing date | 2023-03-23 |
| Publishing country | Switzerland |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2592084-4 |
| ISSN | 1664-2392 |
| ISSN | 1664-2392 |
| DOI | 10.3389/fendo.2023.1143067 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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