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Table 7 MEFV genotypes in FMF or non-FMF patients

From: Familial Mediterranean fever is no longer a rare disease in Japan

 

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 %)

  1. Values are shown as n (%). FMF familial Mediterranean fever