Article Text
Abstract
Objective Diabetic nephropathy (DN) and diabetic retinopathy (DR) comprise major microvascular complications of diabetes that occur with a high concordance rate in patients and are considered to potentially share pathogeneses. In this case-control study, we sought to investigate whether DR-related single nucleotide polymorphisms (SNPs) exert pleiotropic effects on renal function outcomes among patients with diabetes.
Research design and methods A total of 33 DR-related SNPs were identified by replicating published SNPs and via a genome-wide association study. Furthermore, we assessed the cumulative effects by creating a weighted genetic risk score and evaluated the discriminatory and prediction ability of these genetic variants using DN cases according to estimated glomerular filtration rate (eGFR) status along with a cohort with early renal functional decline (ERFD).
Results Multivariate logistic regression models revealed that the DR-related SNPs afforded no individual or cumulative genetic effect on the nephropathy risk, eGFR status or ERFD outcome among patients with type two diabetes in Taiwan.
Conclusion Our findings indicate that larger studies would be necessary to clearly ascertain the effects of individual genetic variants and further investigation is also required to identify other genetic pathways underlying DN.
- diabetic retinopathy
- diabetic nephropathy
- pleiotropic effect
This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
Statistics from Altmetric.com
Footnotes
A-RH and F-JT contributed equally.
Contributors W-LL contributed to the conception and design of the study, the acquisition and interpretation of data. Y-CH, Y-FY, H-JL and J-ML contributed to the acquisition of data. A-RH, C-MW and Y-WC analyzed the data. F-JT contributed to the reagents, materials and analysis tools. W-LL wrote and W-LL and A-RH revised the manuscript. All the coauthors have read and approved the final version of the manuscript.
Funding This work was supported in part by research grants from the Biosignature project (grant number BM10701010022) and Biomarker project (grant number AS-BD-108-9), Academia Sinica, Taiwan; from Ministry of Science and Technology of Taiwan (grant number MOST 107-2314-B-039-052-MY2) and from China Medical University (grant number CMU108-MF-83).
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval The study was approved by the China Medical University Hospital Institutional Review Board (CMUH103-REC2-071).
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement Data are available on reasonable request. All data relevant to the study are included in the article or uploaded as online supplementary information.