Table 7.
MEFV genotypes in FMF or non-FMF patients
| FMF | Non-FMF | ||||
|---|---|---|---|---|---|
| Sure | Probable | Newly-diagnosed rheumatic diseases | Established rheumatic diseases | Others | |
| n = 108 | n = 84 | n = 68 | n = 118 | n = 223 | |
| M694I/M694I | 5 (4.6 %) | 0 | 0 | 0 | 0 |
| M694I/P751L | 1 (0.9 %) | 0 | 0 | 0 | 0 |
| M694I/E148Q/E148Q | 1 (0.9 %) | 0 | 0 | 0 | 0 |
| M694I/L110P/E148Q | 8 (7.4 %) | 0 | 0 | 0 | 0 |
| M694I/E148Q | 22 (20.4 %) | 0 | 0 | 0 | 0 |
| M694I/normal | 10 (9.3 %) | 0 | 0 | 0 | 0 |
| G632/E148Q | 0 | 1 (1.2 %) | 0 | 0 | 0 |
| R354Q/normal | 0 | 1 (1.2 %) | 0 | 0 | 0 |
| P369S/R408Q | 2 (1.9 %) | 8 (9.5 %) | 2 (2.9 %) | 2 (1.7 %) | 16 (7.2 %) |
| G304R/G304R | 0 | 1 (1.2 %) | 0 | 0 | 0 |
| G304R/P369S/R408Q | 0 | 0 | 0 | 0 | 1 (0.5 %) |
| G304R/normal | 1 (0.9 %) | 5 (6.0 %) | 1 (1.5 %) | 6 (5.1 %) | 8 (3.6 %) |
| R202Q/R202Q | 0 | 0 | 0 | 0 | 1 (0.5 %) |
| R202Q/P369S/R408Q | 1 (0.9 %) | 0 | 0 | 2 (1.7 %) | 0 |
| R202Q/normal | 5 (4.6 %) | 4 (4.8 %) | 4 (5.9 %) | 3 (2.5 %) | 11 (4.9 %) |
| E225K/P369S/R408Q | 0 | 1 (1.2 %) | 0 | 0 | 0 |
| E148Q/E148Q | 3 (2.8 %) | 4 (4.8 %) | 2 (2.9 %) | 4 (3.4 %) | 2 (0.9 %) |
| E148Q/G304R/P369S/R408Q | 1 (0.9 %) | 0 | 1 (1.5 %) | 0 | 0 |
| E148Q/R202Q/P369S/R408Q | 0 | 2 (2.4 %) | 0 | 0 | 0 |
| E148Q/R202Q | 2 (1.9 %) | 0 | 0 | 1 (0.9 %) | 2 (0.9 %) |
| E148Q/E148Q/P369S/P369S/R408Q/R408Q | 0 | 1 (1.2 %) | 0 | 0 | 0 |
| E148Q/E148Q/P369S/R408Q | 1 (0.9 %) | 2 (2.4 %) | 0 | 0 | 2 (0.9 %) |
| E148Q/P369S/P369S/R408Q/R408Q | 0 | 1 (1.2 %) | 0 | 0 | 1 (0.5 %) |
| E148Q/P369S/R408Q | 3 (2.8 %) | 5 (6.0 %) | 0 | 3 (2.5 %) | 7 (3.1 %) |
| E148Q/P369S | 0 | 1 (1.2 %) | 0 | 0 | 1 (0.5 %) |
| E148Q/normal | 15 (13.9 %) | 16 (19.0 %) | 10 (14.7 %) | 26 (22.0 %) | 44 (19.7 %) |
| P115R/normal | 0 | 0 | 1 (1.5 %) | 1 (0.9 %) | 0 |
| L110P/E148Q/E148Q/P369S/R408Q | 0 | 1 (1.2 %) | 0 | 1 (0.9 %) | 1 (0.5 %) |
| L110P/E148Q/E148Q/P369S | 0 | 0 | 0 | 1 (0.9 %) | 0 |
| L110P/E148Q/R202Q/P369S/R408Q | 0 | 0 | 0 | 0 | 1 (0.5 %) |
| L110P/E148Q/P369S/R408Q | 0 | 0 | 1 (1.5 %) | 1 (0.9 %) | 2 (0.9 %) |
| L110P/E148Q/P369S | 0 | 1 (1.2 %) | 0 | 0 | 3 (1.4 %) |
| L110P/E148Q/G304R | 0 | 1 (1.2 %) | 0 | 0 | 1 (0.5 %) |
| L110P/E148Q/R202Q | 1 (0.9 %) | 2 (2.4 %) | 0 | 0 | 0 |
| L110P/L110P/E148Q/E148Q | 0 | 0 | 0 | 0 | 1 (0.5 %) |
| L110P/E148Q/E148Q | 3 (2.8 %) | 7 (8.3 %) | 1 (1.5 %) | 1 (0.9 %) | 5 (2.2 %) |
| L110P/L110P/E148Q | 1 (0.9 %) | 0 | 0 | 0 | 0 |
| L110P/E148Q | 13 (12.0 %) | 5 (6.0 %) | 6 (8.8 %) | 13 (11.0 %) | 21 (9.4 %) |
| E84K/L110P/E148Q | 0 | 1 (1.2 %) | 0 | 1 (0.9 %) | 0 |
| E84K/G304R | 0 | 1 (1.2 %) | 0 | 0 | 0 |
| E84K/E148Q | 0 | 2 (2.4 %) | 0 | 0 | 1 (0.5 %) |
| E84K/R410H | 1 (0.9 %) | 0 | 0 | 0 | 1 (0.5 %) |
| E84K/normal | 3 (2.8 %) | 4 (4.8 %) | 1 (1.5 %) | 1 (0.9 %) | 6 (2.7 %) |
| R80H/normal | 0 | 0 | 0 | 0 | 1 (0.5 %) |
| Normal | 5 (4.6 %) | 6 (7.1 %) | 38 (55.9 %) | 51 (43.2 %) | 83 (37.2 %) |
Values are shown as n (%). FMF familial Mediterranean fever