Analysis of multiple genetic loci reveals MPDZ-NF1B rs1324183 as a putative genetic marker for keratoconus.

Yu Meng WangLi MaShi Yao LuTommy Chung Yan ChanJason C S YamShu Min TangKa Wai KamPancy O S TamClement C ThamAlvin L YoungVishal JhanjiChi Pui PangLi Jia Chen

Published in: The British journal of ophthalmology (2018)

This study confirmed the association of SNP rs1324183 in MPDZ-NF1B with keratoconus and revealed the association of this SNP with keratoconus severity and corneal parameters. It is thus a putative genetic marker for monitoring the progression of keratoconus to a severe form and facilitating early intervention.

Keyphrases

genome wide
dna methylation
signaling pathway
copy number
lps induced
pi k akt
oxidative stress
nuclear factor
single cell
optical coherence tomography
immune response
drug induced