Pilot study in Polish keratoconus patients using next generation sequencing

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Next generating sequencing (NGS) is a useful tool in disease etiology evaluation. Keratoconus is a multifactorial disease in which NGS technology may be applicable. Here we present a design of keratoconus study based on transcriptome analyzes in human corneas derived from keratoconus and control individuals from Poland.


A total of 96 individuals from Polish population are included into this study: 48 keratoconus patients and 48 individuals without keratoconus phenotype. Illumina HiScan SQ system is applied in transcriptome analyzes in the study.


Total RNA from corneas for RNAseq and small RNA analyzes was extracted. Transcriptome analyzes were initiated.


Since genetic factors involved in keratoconus etiology are in majority unrecognizable, the newest available technologies are necessary to be involved in further keratoconus research. Support: Polish Ministry of Science and Higher Education, Grant no. NN402591740 and National Science Centre in Poland, Grant no. 2012/05/E/NZ5/02127.

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