Allele frequency in patients with and without known mutations in CFH, MCP and IF
Control allele frequency | HUS – mutation negative allele frequency | HUS – mutation positive allele frequency | ||||||
---|---|---|---|---|---|---|---|---|
1 | 2 | 1 | 2 | p Value | 1 | 2 | p Value | |
CFH, complement factor H; HUS, haemolytic-uraemic syndrome; MCP, membrane cofactor protein. | ||||||||
Newcastle cohort (n = 22 mutation positive) | ||||||||
CFH −257C→T | 71 | 29 | 52 | 48 | 0.001 | 64 | 36 | 0.38 |
CFH c.2089A→G | 87 | 13 | 64 | 36 | <0.001 | 71 | 29 | 0.019 |
CFH c.2881G→T | 81 | 19 | 65 | 35 | 0.002 | 76 | 24 | 0.52 |
MCP c.IVS12+638G→A | 62 | 38 | 43 | 57 | 0.001 | 45 | 55 | 0.038 |
MCP c.2232T→C | 58 | 42 | 43 | 57 | 0.018 | 45 | 55 | 0.14 |
Paris cohort (n = 39 mutation positive) | ||||||||
CFH −257C→T | 80 | 20 | 59 | 41 | 0.012 | 51 | 49 | <0.001 |
CFH c.2089A→G | 84 | 16 | 76 | 24 | 0.182 | 64 | 36 | 0.001 |
CFH c.2881G→T | 84 | 16 | 76 | 24 | 0.143 | 57 | 43 | <0.001 |
MCP −547A→G | 62 | 38 | 42 | 58 | 0.005 | 39 | 61 | 0.001 |
MCP-261A→G | 63 | 37 | 42 | 58 | 0.005 | 39 | 61 | <0.001 |
MCP c.IVS8+23T→G | 80 | 20 | 55 | 45 | <0.001 | 53 | 47 | <0.001 |
MCP c.IVS9-78G→A | 66 | 34 | 43 | 57 | 0.001 | 43 | 57 | 0.001 |
MCP c.2232T→C | 64 | 36 | 45 | 55 | 0.006 | 41 | 59 | 0.001 |