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).

Steffen U ThorsenKristian Juul SandahlLotte B NielsenRebecca BroeMalin L RasmussenTunde PetoJakob GrauslundMarie L M AndersenHenrik B MortensenFlemming PociotBirthe S OlsenCaroline Brorsson

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2015)

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.

Keyphrases

diabetic retinopathy
genome wide
type diabetes
copy number
cardiovascular disease
gene expression
tyrosine kinase
skeletal muscle
dna methylation
young adults
metabolic syndrome
transcription factor