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Replication of genetic loci implicated in diabetic retinopathy

journal contribution
posted on 2023-05-18, 05:00 authored by McAuley, AK, Wang, JJ, Dirani, M, Connell, PP, Lamoureux, E, Alexander HewittAlexander Hewitt
PURPOSE: Recent genome-wide association studies for diabetic retinopathy (DR) have identified novel single nucleotide polymorphisms (SNPs) associated with this potentially blinding disease. These markers could prove useful in risk profiling, if the association are validated by replication. To date, these associations have not been well assessed in independent cohorts. The objective of this study was to ascertain any association of these polymorphisms with advanced stages of DR.

METHODS: A total of 463 patients who had either type 1 (n = 46) or 2 (n = 417) diabetes were genotyped for 24 SNPs previously implicated in DR. Cases (n = 163) were defined as people with severe nonproliferative DR or proliferative DR. Control participants (n = 300) with a confirmed duration of diabetes of at least 5 years had either no evidence of DR or only mild DR.

RESULTS: Two SNPs (rs1073203 and rs4838605) were found to be significantly associated with DR in patients with diabetes after adjusting for covariants; rs1073203-G (P = 0.012, odds ratio [OR] = 0.317, 95% confidence interval [95% CI]: 0.129-0.778), rs1073203 in a dominant model (P = 0.005, OR = 0.251, 95% CI: 0.096-0.655), rs4838605 in an additive model (P = 0.047, OR = 1.650, 95% CI: 1.007-2.703), In a dominant model rs1073203 (P = 0.027, OR = 1.400, 95% CI: 0.101-0.857), was significantly associated with DR in type 2 diabetes after adjustment for covariants. This study was sufficiently powered to replicate previous findings.

CONCLUSIONS: This study confirmed that two variants (rs1073203 and rs4838605) are associated with advanced stages of DR in our cohort. The underlying genes in these candidate regions provide interesting future gene association targets for understanding the pathogenesis of DR.

History

Publication title

Investigative Ophthalmology and Visual Science (Iovs)

Volume

55

Pagination

1666-1671

ISSN

0146-0404

Department/School

Tasmanian School of Medicine

Publisher

Assoc Research Vision Ophthalmology Inc

Place of publication

12300 Twinbrook Parkway, Rockville, USA, Md, 20852-1606

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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