Table 2.

Genes associated with primary angle closure glaucoma. SNP: single nucleotide polymorphism.

Gene	SNP/Haplotype	Protein Product	Gene Function	Ethnicity	Citation
ABCC5	rs1401999	ATP binding cassette subfamily C member 5	Transport across plasma membrane	Asian Descent	Nongpiur et al., 2014 [142]
ACVR1	rs12997	Activin receptor type-1 protein	Bone morphogenic protein pathway signaling	Middle Eastern	Kondkar et al., 2020 [152]
CALCRL	AATACAGAT	Calcitonin Receptor Like Receptor	Transmembrane domain receptor activity	European Descent	Awadalla et al., 2012 [153]
CHAT	rs1258267	Choline O-Acetyltransferase	Production of acetylcholine in presynaptic terminals	Multi-Ethnic	Khor et al., 2016 [144]
CHAT	rs1258267	Choline O-Acetyltransferase	Production of acetylcholine in presynaptic terminals	Middle Eastern	Yousefian et al., 2020 [154]
COL11A1	rs3753841	Collagen Type XI Alpha 1 Chain	Produces component of type XI collagen	Asian Descent	Vithana et al., 2012 [145]
COL11A1	rs3753841	Collagen Type XI Alpha 1 Chain	Produces component of type XI collagen	European Descent	Vithana et al., 2012 [145]
DPM2-FAM102A	rs3739821	Dolichol phosphate-mannose (DPM) biosynthesis regulatory protein—Family with sequence similarity 102 member A	Regulates synthesis of DPM-role in estrogen activation	Multi-Ethnic	Khor et al., 2016 [144]
eNOS	Intron 4 VNTR repeat	Nitric oxide synthase 3	NO production	Middle Eastern	Ayub et al., 2010 [58]
EPDR1	rs3816415	Mammalian ependymin-related protein 1	Transmembrane protein for calcium-dependent cell adhesion	Middle Eastern	Yousefian et al., 2020 [154]
EPDR1	rs3816415	Mammalian ependymin-related protein 1	Transmembrane protein for calcium-dependent cell adhesion	Multi-Ethnic	Khor et al., 2016 [144]
FERMT2	rs7494379	Fermitin Family Member 2	Cell adhesion	Middle Eastern	Yousefian et al., 2020 [154]
FERMT2	rs7494379	Fermitin Family Member 2	Cell adhesion	Multi-Ethnic	Khor et al., 2016 [144]
GLIS3	rs736893	GLIS Family Zinc Finger 3	Transcription factor	Middle Eastern	Yousefian et al., 2020 [154]
GLIS3	rs736893	GLIS Family Zinc Finger 3	Transcription factor	Multi-Ethnic	Khor et al., 2016 [144]
HGF	rs5745718	hepatocyte growth factor	Regulates cell growth	Asian Descent	Awadalla et al., 2011 [141]
HGF	rs12536657	hepatocyte growth factor	Regulates cell growth	Asian Descent	Awadalla et al., 2011 [141]
HGF	rs12540393	hepatocyte growth factor	Regulates cell growth	Asian Descent	Awadalla et al., 2011 [141]
HGF	rs17427817	hepatocyte growth factor	Regulates cell growth	Asian Descent	Awadalla et al., 2011 [141]
HSP70	G+190C polymorphism	heat-shock protein 70	Protein folding processes	Middle Eastern	Ayub et al., 2010 [58]
MMP9	rs2250880	Matrix metalloproteinase-9	Regulates pathological remodeling processes	Asian Descent	Cong et al., 2009 [139]
MMP9	rs2664538	Matrix metalloproteinase-9	Regulates pathological remodeling processes	Asian Descent	Wang et al., 2006 [137]
MMP9	rs3818249	Matrix metalloproteinase-9	Regulates pathological remodeling processes	European Descent	Awadalla et al., 2011 [140]
MMP9	rs17576	Matrix metalloproteinase-9	Regulates pathological remodeling processes	European Descent	Awadalla et al., 2011 [140]
MMP9	rs17576	Matrix metalloproteinase-9	Regulates pathological remodeling processes	Middle Eastern Descent	Micheal et al., 2013 [155]
PCMTD-ST18	rs1015213	Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 1-suppression of tumorigenicity 18	Protein repair/degradation – tumor suppressor	Asian Descent	Duvesh et al., 2013 [148]
PLEKHA7	rs11024102	Pleckstrin homology domain-containing family A member 7	Stabilizes E-cadherin junctions	Asian Descent	Vithana et al., 2012 [145]
SMOC2	rs13208776	SPARC-related modular calcium binding protein 2	Promotes matrix assembly	Middle Eastern	Al-Dabbagh et al., 2017 [161]
SPATA13	c.1432_1440del; p.478_480del	Spermatogenesis Associated Protein 13	Regulates cell adhesion and migration	European Descent	Waseem et al., 2020 [156]