Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy

Georgia Kaidonis; Jamie E Craig; Mark C Gillies; Sotoodeh Abhary; Rohan W Essex; John H Chang; Bishwanath Pal; Maria Pefkianaki; Mark Daniell; Stewart Lake; Nikolai Petrovsky; Kathryn P Burdon

doi:10.1177/1479164115616902

Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy

Diab Vasc Dis Res. 2016 Mar;13(2):164-7. doi: 10.1177/1479164115616902. Epub 2016 Jan 28.

Authors

Affiliations

¹ Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia Georgia.Kaidonis@flinders.edu.au.
² Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
³ Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, University of Sydney, Sydney, NSW, Australia.
⁴ Academic Unit of Ophthalmology, Australian National University, Canberra, ACT, Australia.
⁵ School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia Medical Retina Service, Moorfields Eye Hospital, London, UK.
⁶ Medical Retina Service, Moorfields Eye Hospital, London, UK.
⁷ Department of Ophthalmology, Royal Melbourne Hospital, Melbourne, VIC, Australia.
⁸ Department of Endocrinology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
⁹ Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia.

PMID: 26821796
DOI: 10.1177/1479164115616902

Abstract

Aim: To investigate, in a large cohort of 2494 individuals with diabetes mellitus, whether functional single nucleotide polymorphisms in the promoter region of tumour necrosis factor (TNF) and lymphotoxin-alpha (LTA) genes are associated with type of diabetes or presence of diabetic retinopathy.

Methods: A total of 334 type 1 diabetes and 999 type 2 diabetes participants with sight-threatening diabetic retinopathy, and 260 type 1 diabetes and 901 type 2 diabetes participants with no diabetic retinopathy or minimal non-proliferative diabetic retinopathy, were genotyped for two single nucleotide polymorphisms (rs1800629 and rs361525).

Results: The A allele of rs1800629 was associated with type 1 diabetes (p < 0.001; odds ratio = 0.62). After adjustment for age, sex, diabetes duration, HbA1c, hypertension and nephropathy, no significant association was found between rs1800629 or rs361525 and sight-threatening diabetic retinopathy.

Conclusion: An association between the A allele of rs1800629 and type of diabetes was found. No association was found between two promoter variants of TNF and LTA, and diabetic retinopathy in a large cohort of Caucasian patients with type 1 diabetes and type 2 diabetes.

Keywords: Diabetic retinopathy; diabetes; genetics; lymphotoxin-alpha; tumour necrosis factor.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Diabetes Mellitus, Type 2 / genetics*
Diabetic Retinopathy / genetics*
Genetic Loci
Genetic Predisposition to Disease
Genetic Testing / methods
Genotype
Humans
Lymphotoxin-alpha / genetics*
Polymorphism, Single Nucleotide / genetics*
Promoter Regions, Genetic*
Tumor Necrosis Factor-alpha / genetics*

Substances

Lymphotoxin-alpha
Tumor Necrosis Factor-alpha