Frequencies of FH and MCP haplotypes in R139W-aHUS patients, their healthy relatives carriers of R139W and normal donors
| . | Promoter −322 C/T . | c.184G>A; p.Val62Ile . | c.1204T>C; p.Tyr402His . | c.2016A>G; p.Gln672Gln . | c.2808G>T; p.Glu936Asp . | Controls . | R139W healthy carrier (n = 11) vs controls . | R139W aHUS (n = 14) vs controls . | R139W healthy carrier (n = 11) vs R139W aHUS (n = 14) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Freq . | Freq . | OR . | Int 95% . | P . | Freq . | OR . | Int 95% . | P . | OR . | Int 95% . | P . | ||||||
| CFH | (n = 275) | ||||||||||||||||
| H1 | C | G | C | A | G | 0.34 | 0.16 | 0.32 | 0.11-0.95 | .04 | 0.06 | 0.15* | 0.04-0.64* | .01* | ns | ||
| H2 | C | A | T | A | G | 0.2 | 0 | ns | 0.07 | ns | ns | ||||||
| H3 | T | G | T | G | T | 0.13 | 0.22 | ns | 0.46 | 5.75* | 2.63-12.59* | < .0001* | 3.99* | 1.18-13.5* | .03* | ||
| H4 | C | G | T | A | G | 0.17 | 0.41 | 0.09* | 0.05-0.18* | < .0001* | 0.09 | ns | ns | ||||
| −652 A>G (rs2796267) | −366 A>G (rs2796268) | IVS9-78 G>A (rs1962149) | IVS12+638 G>A (rs859705) | c.4070 T>C (rs7144) | |||||||||||||
| MCP | (n = 192) | ||||||||||||||||
| MCP1 | A | A | G | G | T | 0.5 | 0.31 | 0.33* | 0.14-0.8* | .01* | 0.23 | 0.27* | 0.11-0.69* | .006* | ns | ||
| MCP2 | G | G | A | A | C | 0.25 | 0.43 | ns | 0.59 | 4.64* | 2.1-10.24* | .0001* | 3.26* | 1.09-9.78* | .03* | ||
| MCP3 | G | A | G | G | T | 0.12 | 0.09 | ns | 0.05 | ns | ns | ||||||
| MCP4 | A | G | A | A | C | 0.09 | 0.06 | ns | 0.08 | ns | ns | ||||||
| . | Promoter −322 C/T . | c.184G>A; p.Val62Ile . | c.1204T>C; p.Tyr402His . | c.2016A>G; p.Gln672Gln . | c.2808G>T; p.Glu936Asp . | Controls . | R139W healthy carrier (n = 11) vs controls . | R139W aHUS (n = 14) vs controls . | R139W healthy carrier (n = 11) vs R139W aHUS (n = 14) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Freq . | Freq . | OR . | Int 95% . | P . | Freq . | OR . | Int 95% . | P . | OR . | Int 95% . | P . | ||||||
| CFH | (n = 275) | ||||||||||||||||
| H1 | C | G | C | A | G | 0.34 | 0.16 | 0.32 | 0.11-0.95 | .04 | 0.06 | 0.15* | 0.04-0.64* | .01* | ns | ||
| H2 | C | A | T | A | G | 0.2 | 0 | ns | 0.07 | ns | ns | ||||||
| H3 | T | G | T | G | T | 0.13 | 0.22 | ns | 0.46 | 5.75* | 2.63-12.59* | < .0001* | 3.99* | 1.18-13.5* | .03* | ||
| H4 | C | G | T | A | G | 0.17 | 0.41 | 0.09* | 0.05-0.18* | < .0001* | 0.09 | ns | ns | ||||
| −652 A>G (rs2796267) | −366 A>G (rs2796268) | IVS9-78 G>A (rs1962149) | IVS12+638 G>A (rs859705) | c.4070 T>C (rs7144) | |||||||||||||
| MCP | (n = 192) | ||||||||||||||||
| MCP1 | A | A | G | G | T | 0.5 | 0.31 | 0.33* | 0.14-0.8* | .01* | 0.23 | 0.27* | 0.11-0.69* | .006* | ns | ||
| MCP2 | G | G | A | A | C | 0.25 | 0.43 | ns | 0.59 | 4.64* | 2.1-10.24* | .0001* | 3.26* | 1.09-9.78* | .03* | ||
| MCP3 | G | A | G | G | T | 0.12 | 0.09 | ns | 0.05 | ns | ns | ||||||
| MCP4 | A | G | A | A | C | 0.09 | 0.06 | ns | 0.08 | ns | ns | ||||||
ns indicates not significant. See Table 1 for expansion of other abbreviations.
Lines where significant differences were found. H3 haplotype (CFH tgtgt) and MCP2 haplotype (MCP ggaac) were previously identified at-risk haplotypes for aHUS.