Table 4.

Genetic studies and genes involved in KC.

Gene	SNP	SNP locus	Modality	Reference
LOX	rs10519694	Intron	GWAS	Bykhovskaya et al., 2012
	rs2956540	Intron	GWAS	Dudakova et al., 2015
HGF	rs3735520			Dudakova et al., 2015
WNT10a	rs121908120	mis-sense F228I	GWAS	Cuellar-Partida et al., 2015
MPDZ-NF1B	rs1324183			Li et al., 2013
ZNF469	Multiple	Exon sequencing of ZNF469		Vincent et al., 2014 Yildiz et al., 2017 Valgaeren et al., 2018
IL1a	rs2071376	Intron		Kim et al., 2008
COL5A1	rs1536482	Fine-Mapping		Li et al., 2013
FOXO1	rs2721051	GWAS		Lu et al., 2013
PDGFRA	rs2114039	GWAS		Mishra et al., 2012
BANP	rs9938149	Intergenic	Allele specific	Sahebjada et al., 2013
IL1b	rs16944	Promoter	PCR	Kim et al., 2008
	rs1143627	Promoter
VSX1	R166W, L159M			Heon et al., 2002
MIR184	A (r.57 c > u) mutation in the micro-RNA (miRNA) gene MIR184 (OMIM 613146)			Abu-Amero et al., 2015 Valgaeren et al., 2018
Mitochondrial complex I genes, (MT-ND1, 2, 3, 4, 4L, 5, and 6), especially MT-ND5	mitochondrial dna sequencing			Pathak et al., 2011
SOD1	7-base deletion	Intron		Udar et al., 2006