|
| Author | Year | Population | Size/carrier/affected | Gene: variant or haplotype | Risk genotype | Penetrance rate | SNP rs ID | MAF |
|
| Warwicker et al. [28] | 1998 | | 51/3/11* | CFH: c.3716C>G (p.R1197G) | C/G | | rs121913051 | |
| | | | | CFH: c.145_148delAGAA | het | | | |
| Ying et al. [31] | 1999 | Bedouin-Arab | 55/?/11** | CFH: c.3645C>T (p.S1191L) | T/T | | rs460897 | 29.35% |
| Richards et al. [40] | 2003 | Belgian | 8/0/3 | MCP: p.237_238delDS | het | 100.0% | | |
| | | German | 4/1/2 | MCP: c.822T>C (p.S206P) | T/C | 66.7% | rs121909589 | |
| | | Turkish | 4/2/2 | MCP: c.822T>C (p.S206P) | C/C | 50.0% | rs121909589 | |
| Caprioli et al. [30] | 2003 | | 13/1/2 | CFH: c.1494_1496delAAA | het | 66.7% | | |
| | | | 5/1/2 | CFH: c.3620T>A (p.Y1183R) | T/A | 66.7% | | |
| | | | 10/5/2 | CFH: c.3654G>A (p.G1194D) | G/A | 28.6% | | |
| | | | 6/1/3 | CFH: c.3701C>T (p.R1210C) | C/T | 75.0% | rs121913059 | 0.02% |
| | | | 37/?/10* | CFH: c.3579A>T | A/T | | | |
| | | | | CFH: a 24-bp deletion in SCR20 | het | | | |
| | | | 9/2/3 | CFH: c.3717G>A (p.R1215Q) | G/A | 60.0% | | |
| Noris et al. [41] | 2003 | White | 4/1/2 | MCP: c.843_844delAC | het | 66.7% | | |
| Frémeaux-Bacchi et al. [42] | 2006 | White | 5/0/3 | MCP: p.G162R | het | 100.0% | | |
| | | | 4/0/2* | MCP: p.Y155D | het | 100.0% | | |
| | | | | MCP: c.IVS7-2A>G | het | 100.0% | | |
| Esparza-Gordillo et al. [43] | 2006 | Spanish | 24/11/2* | MCP: c.598C>T(p. P165S) | C/T | 28.6% | | |
| | | | | MCP: MCPggaac*** | het | 33.3% | | |
| | | | | CFI: c.1610insAT(p.T538X) | het | 28.6% | | |
| Caprioli et al. [7] | 2006 | Sardinian | 8/4/3* | MCP: D1S2735, D1S2796, IVS1-1G>C, ExV(SCR3), Ex XII, D1S2692 | 2,1,+,A,T,8 | 42.9% | | |
| | | | | MCP: c.IVS1-1G>C | G/C | 42.9% | | |
| | | | 8/1/5* | MCP: c.218C>T | C/T | 85.7% | | |
| | | | | MCP: c.147G>A | G/A | 85.7% | | |
| | | | 5/2/2 | MCP: c.843_844delAC | het | 50% | | |
| | | | 21/5/2 | MCP: c.768T>G | T/G | 28.6% | | |
| Goicoechea de Jorge et al. [53] | 2007 | Spanish | 32/4/7* | CFB: c.858C>G (p.F286L) | C/G | 64.0% | | |
| | | | | MCP: MCPggaac | het | 87.5% | | |
| Frémeaux-Bacchi et al. [50] | 2008 | | 54/?/6 | C3: p.R570W | C/T | | | |
| Martinez-Barricarte et al. [29] | 2008 | | 6/1/3 | CFH: p.R1210C | C/T | 12.5% | rs121913059 | 0.02% |
| Lhotta et al. [51] | 2009 | Austrian | 61/9/4 | C3: c.1775G>A (p.R570Q) | G/A | 10.0% | rs121909583 | |
| Habibi et al. [34] | 2010 | Tunisian | 33/10/6 | CFH: c.3767_3771delTAGA | hom | 37.5% | | |
| Sullivan et al. [33] | 2010 | | 6/3/2 | CFH: c.3007G>T (p.W978C) | G/T | 40.0% | | |
| | | | 5/2/2 | CFH: c.3619G>T (p.R1182S) | G/T | 50.0% | | |
| | | | 4/1/2 | MCP: c.404delG (p.G135VfsX13) | het | 66.7% | | |
| | | | 3/?/2 | CFI: c.491A>T (p.D164V) | A/T | | | |
| Hakobyan et al. [32] | 2010 | | 15/3/4 | CFH: p.C853R, H402 | het+H | 33.3% | | |
| Provaznikova et al. [44] |
2012 | | 3/0/2 | MCP: c.1148C>T | C/T | | | |
| | | | 2/0/2 | MCP: c.404G>A | G/A | | | |
| | | | 2/0/2 | MCP: c.350insA | het | | | |
| | | | 7/2/2 | MCP: c.2T>A | T/A | 50.0% | | |
| Sartz et al. [52] |
2012 | | 20/2/4* | C3: c.4973T>C (p.V1636A) | T/C | 100.0% | | |
| | | | | CFI: c.IVS12+5G>T | G/T | 100.0% | | |
| | | | | MCP: c.1058C>T (p.A304V) | C/T | 50.0% | | |
| | | | | CFH: c.2850G>T (p.Q950H) | G/T | 50.0% | | |
| Francis et al. [38] | 2012 | | 35/4/3 | CFH/CFHR3 hybrid | het | 42.9% | | |
|