Complement System in Pathogenesis of AMD: Dual Player in Degeneration and Protection of Retinal Tissue

Table 1

Summary of single-nucleotide polymorphisms in genes related to complement system that are associated with increased or decreased risk of AMD development.

Complement-related gene	Position: chromosome or chromosome region	SNP identification number	Phenotype-related nucleotide substitution (if known), // amino acid substitution (if  known)	Effect on AMD risk	References
C2/CFB locus	6p23.3	rs429608	G	S	[32]
CFB	6p23.3	rs4151667	TA // L9H	P	[34, 35]
CFB	6p23.3	rs641153	GA // R32Q	P	[36–40]
CFB	6p23.3	rs2072633	IVS17 (intron 17 of CFB)	P	[39]
C2	6p23.3	rs9332739	E318D	P	[34, 35]
C2	6p23.3	rs547154	IVS10 (intron 10 of C2)	P	[34, 39, 41, 42]
C3	19p13.3	rs2230199	CG // R102G	S	[43]
C7	5p	rs2329434	AT or TT	P (in CFH402H homozygous individuals)	[44]
C7	5p	rs2876849	AT or TT	P (in CFH402H homozygous individuals)	[44]
CFH	1q31	rs10737680	A	S	[32]
CFH	1q31	rs1061170	CC // Y402H	S	[43, 45–47]
CFH	1q31	rs1061170	TT // H402Y	P	[43, 45–47]
CFH	1q31	rs1410996	CT	S	[43]
CFH	1q31	rs800292	AA // I62V	P	[48]
CFH	1q31	rs1065489	TA // D936E	P	[49, 50]
CFH	1q31	rs3753396	AG // Q672	P	[48]
CFH	1q31	rs1329428	CFH intron	P	[51]
CFH	1q31	rs1329424	T	S	[52]
CFH	1q31	rs380390	C	S	[47]
CFH	1q31	rs10272438	C	S	[47]
CFI	4q25	rs10033900	CT	S	[43]
CFI	4q25	rs4698775	CG	S	[32]
ARMS2/HTRA1	10q26	rs10490924	GT // A69S	S	[32, 43]
ARMS2/HTRA1	10q26	rs3750848	ARMS2 intron	S	[51]
ARMS2/HTRA1	10q26	rs3793917	HTRA1 promoter polymorphism	S	[51]
CFHR1	1q23	—	gene deletion → CFHR1 protein is absent in serum of homozygotes.	P	[53, 54]
CFHR3	1q23	—	gene deletion → CFHR3 protein is absent in serum of homozygotes.	P	[53, 54]

P: protective effect; S: increased susceptibility to AMD.