title: 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.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia Georgia.Kaidonis@flinders.edu.au.
authors.forename: Georgia
authors.initials: G
authors.lastname: Kaidonis
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.affiliation: Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, University of Sydney, Sydney, NSW, Australia.
authors.forename: Mark C
authors.initials: MC
authors.lastname: Gillies
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
authors.forename: Sotoodeh
authors.initials: S
authors.lastname: Abhary
authors.affiliation: Academic Unit of Ophthalmology, Australian National University, Canberra, ACT, Australia.
authors.forename: Rohan W
authors.initials: RW
authors.lastname: Essex
authors.affiliation: School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia Medical Retina Service, Moorfields Eye Hospital, London, UK.
authors.forename: John H
authors.initials: JH
authors.lastname: Chang
authors.affiliation: Medical Retina Service, Moorfields Eye Hospital, London, UK.
authors.forename: Bishwanath
authors.initials: B
authors.lastname: Pal
authors.affiliation: Medical Retina Service, Moorfields Eye Hospital, London, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Pefkianaki
authors.affiliation: Department of Ophthalmology, Royal Melbourne Hospital, Melbourne, VIC, Australia.
authors.forename: Mark
authors.initials: M
authors.lastname: Daniell
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
authors.forename: Stewart
authors.initials: S
authors.lastname: Lake
authors.affiliation: Department of Endocrinology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia.
authors.forename: Nikolai
authors.initials: N
authors.lastname: Petrovsky
authors.affiliation: Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia.
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D008233:Lymphotoxin-alpha / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D008233:Lymphotoxin-alpha; D014409:Tumor Necrosis Factor-alpha
keywords: Diabetic retinopathy; diabetes; genetics; lymphotoxin-alpha; tumour necrosis factor