A Guide to Genome-Wide Association Study Design for Diabetic Retinopathy

Rajya L Gurung; Kathryn P Burdon; Bennet J McComish

doi:10.1007/978-1-0716-3255-0_5

A Guide to Genome-Wide Association Study Design for Diabetic Retinopathy

Methods Mol Biol. 2023:2678:49-89. doi: 10.1007/978-1-0716-3255-0_5.

Authors

Rajya L Gurung¹, Kathryn P Burdon², Bennet J McComish³

Affiliations

¹ Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia. rajyalaxmi.gurung@utas.edu.au.
² Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia. kathryn.burdon@utas.edu.au.
³ Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.

PMID: 37326705
DOI: 10.1007/978-1-0716-3255-0_5

Abstract

Diabetic retinopathy (DR) is the most common microvascular complication related to diabetes. There is evidence that genetics play an important role in DR pathogenesis, but the complexity of the disease makes genetic studies a challenge. This chapter is a practical overview of the basic steps for genome-wide association studies with respect to DR and its associated traits. Also described are approaches that can be adopted in future DR studies. This is intended to serve as a guide for beginners and to provide a framework for further in-depth analysis.

Keywords: Diabetic retinopathy; Genetics; Genome-wide association study; Methods; Protocols.

Publication types

Review

MeSH terms

Diabetes Mellitus, Type 2* / genetics
Diabetic Retinopathy* / genetics
Genome-Wide Association Study / methods
Humans
Phenotype