Table 1.

Genes and loci associated with Fuchs endothelial corneal dystrophy (FECD).

Associated gene or loci	Protein	OMIM	Genomic coordinates (GRCh38)	Most significantly associated SNP	Reference
Gene harbouring presumed causative variant(s)
TCF4	Transcription factor 4	613267	18:55,222,184–55,635,956	rs613872 rs784257	Baratz et al. (2010); Wieben et al. (2012) Afshari et al. (2017)
COL8A2	Collagen Type VIII Alpha 2 Chain	136800	1:36,095,238–36,126,206	NA	Biswas et al. (2001)
SLC4A11	Solute carrier family 4 (sodium borate cotransporter), member 11	613268	20:3,227,416–3,241,483	NA	Vithana et al. (2008)
ZEB1	Zinc finger E box-binding homeobox 1	613270	10:31,318,416–31,529,813	NA	Mehta et al. (2008)
AGBL1	ATP/GTP-binding protein-like 1	615523	15:86,079,619–87,031,475	NA	Riazuddin et al. (2013)
LOXHD1	Lipoxygenase homology domain-containing 1	NA	18:46,476,960–46,657,114	NA	Riazuddin et al. (2012)
Associated loci identified via GWAS
KANK4	KN motif- and ankyrin repeat domain-containing protein 4	NA	1:62,236,164–62,319,433	rs79742895	Afshari et al. (2017)
LAMC1	Laminin, gamma-1	NA	1:183,023,419–183,145,591	rs3768617	Afshari et al. (2017)
LINC00970/ATP1B1	ATPase, Na+/K+ transporting, beta-1 polypeptide	NA	1:169,106,689–169,132,718	rs1200114	Afshari et al. (2017)

OMIM, online inheritance in man; GWAS, genome wide association study; SNP, single nucleotide polymorphism.