University Of Tasmania
107924 - Promoter polymorphism - Final author version.pdf (199.25 kB)
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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

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journal contribution
posted on 2023-05-18, 18:25 authored by Kaidonis, G, Craig, JE, Gillies, MC, Abhary, S, Essex, RW, Chang, JH, Pal, B, Pefkianaki, M, Daniell, M, Lake, S, Petrovsky, N, Kathryn BurdonKathryn Burdon
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.


Publication title

Diabetes and Vascular Disease Research








Menzies Institute for Medical Research


Sage Publications Ltd.

Place of publication

United Kingdom

Rights statement

© The Author(s) 2016

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

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