Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987)

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Do different spectral domain OCT hardwares measure the same? Comparison of retinal thickness using third-party software

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Characterization of plasma lipidomics in adolescent subjects with increased risk for type 1 diabetes in the DiPiS cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Systemic TNFα correlates with residual β-cell function in children and adolescents newly diagnosed with type 1 diabetes

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Cost of Treating Skin Problems in Patients with Diabetes who Use Insulin Pumps and/or Glucose Sensors

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Circulating Inflammatory Markers Are Inversely Associated with Heart Rate Variability Measures in Type 1 Diabetes

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Lipidomics of human adipose tissue reveals diversity between body areas

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

BACKGROUND: The incidence of type 1 diabetes mellitus (T1DM) is increasing globally, and as a consequence, more patients are affected by microvascular complications such as diabetic retinopathy (DR). The aim of this study was to elucidate possible associations between diabetes-related single-nucleotide polymorphisms (SNP) and the development of DR.

METHODS: Three hundred and thirty-nine patients with T1DM from the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987) went through an ophthalmic examination in 1995; 185 of these were reexamined in 2011. The development of DR was assessed by comparison of overall DR level between baseline and follow-up in the worst eye at baseline. Patients were graded on a modified version of the Early Treatment Diabetic Retinopathy Study (ETDRS) scale, and 20 SNPs were genotyped in 130 of the 185 patients.

RESULTS: We found the CTSH/rs3825932 variant (C > T) was associated with reduced risk of progression to proliferative diabetic retinopathy (PDR) (OR [95 % CI] = 0.20 [0.07-0.56], p = 2.4 × 10(-3), padjust = 0.048) and ERBB3/rs2292239 variant (G > T) associated with increased risk of two-step progression (OR [95 % CI] = 2.76 [1.31-5.80], p = 7.5 × 10(-3), padjust = 0.15). The associations were independent of other known risk factors, such as HbA1c, sex, and diastolic blood pressure.

CONCLUSION: In conclusion, CTSH/rs3825932 and ERBB3/rs2292239 SNPs were associated with reduced risk of progression to PDR and two-step progression of DR on the ETDRS scale accordingly. The variant CTSH remained statistically significant after adjusting for multiple testing. Our results suggest an overlap between genetic variants that confer risk of T1DM and progression of DR.

Original languageEnglish
JournalGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie
Volume253
Issue number11
Pages (from-to)1959-65
Number of pages7
DOIs
Publication statusPublished - Nov 2015

ID: 45949826