Frequency of mutations in Mediterranean fever gene, with gender

Frequency of mutations in Mediterranean fever gene, with gender

Supplementary data:
Frequency of mutations in Mediterranean fever gene, with gender and
genotype–phenotype correlations in a Turkish population
Salih Coşkun, Serkan Kurtgöz, Ece Keskin, Ferah Sönmez and Gökay Bozkurt
J. Genet. 94, 629–635
Table 1. Whole data of genotype–phenotype correlations of M694V mutations.
Clinical features
Female/male
Fever
Abdominal pain
Arthralgia
Colchicine usage
Family history of FMF
Arthritis
Proteinuria
Constipation
Fatigue
Vomiting
Diarrohea
Erysipelas-like erythema
Appendectomy
Anorexia
Chest pain
Headache
Myalgia
Splenomegaly
Family history of renal failure
Amyloidosis
Phenotype II
Hepatomegaly
a Wild-type genotypes were not
b No statistics are computed.
M694V/M694V
(group 3; n = 14)
n (%)
4/10
14 (100.0)
13 (92.9)
11 (78.6)
10 (71.4)
9 (64.3)
7 (50.0)
7 (50.0)
5 (35.7)
4 (28.6)
4 (28.6)
3 (21.4)
3 (21.4)
3 (21.4)
2 (14.3)
2 (14.3)
2 (14.3)
2 (14.3)
2 (14.3)
2 (14.3)
1 (7.1)
1 (7.1)
0 (0.00)
M694V/others
(group 4; n = 65)
n (%)
29/36
44 (67.7)
47 (72.3)
28 (43.1)
29 (44.6)
40 (61.5)
21 (32.3)
7 (10.8)
9 (13.8)
15 (23.1)
18 (27.7)
6 (9.2)
6 (9.2)
2 (3.1)
9 (13.8)
12 (18.5)
8 (12.3)
11 (16.9)
2 (3.1)
2 (3.1)
0 (0.0)
0 (0.0)
1 (1.5)
Other genotypesa
(group 5; n = 96)
n (%)
56/40
72 (75.0)
79 (82.3)
48 (50.0)
27 (28.1)
43 (44.8)
18 (18.8)
9 (9.4)
10 (10.4)
23 (24.0)
23 (24.0)
11 (11.5)
4 (4.2)
7 (7.3)
12 (12.5)
12 (12.5)
9 (9.4)
4 (4.2)
2 (2.1)
4 (4.2)
0 (0.0)
0 (0.0)
3 (3.1)
included in other genotypes.
Statistically significant results (P<0.05) are indicated in bold.
Journal of Genetics
P (group 3/
group 4)
P (group 3/
group 5)
P (group 4/
group 5)
0.269
0.016
0.167
0.016
0.069
0.847
0.231
0.001
0.052
0.733
0.946
0.194
0.194
0.037
0.965
0.988
0.839
0.809
0.142
0.142
0.177
0.177
0.640
0.037
0.037
0.459
0.045
0.004
0.172
0.016
<0.001
0.023
0.743
0.743
0.383
0.043
0.115
0.851
0.851
0.630
0.168
0.078
0.168
0.127
0.127
0.502
0.087
0.311
0.132
0.388
0.031
0.037
0.050
0.771
0.508
0.897
0.594
0.651
0.204
0.315
0.803
0.297
0.552
0.014
0.691
0.720
–b
–b
0.648
Supplementary data, J. Genet. 94, 629–635
Table 2. Whole data of genotype–phenotype correlation features according to genotypes.
Compound
Heterozygote
heterozygote
genotypes
(Group 1; n = 32) (Group 2; n = 124)
n (%)
n (%)
Female/male
Family history of FMF
Abdominal pain
Fever
Arthralgia
Arthritis
Fatigue
Vomiting
Colchicine usage
Anorexia
Chest pain
Constipation
Diarrohea
Headache
Myalgia
Erysipelas-like erythema
Hepatomegaly
Splenomegaly
Appendectomy
Family history of renal failure
Proteinuria
14/18
17 (53.1)
28 (87.5)
25 (78.1)
17 (53.1)
10 (31.3)
7 (21.9)
10 (31.3)
20 (62.5)
6 (18.8)
10 (31.3)
7 (21.9)
4 (12.5)
5 (15.6)
2 (6.3)
3 (9.4)
1 (3.1)
2 (6.3)
5 (15.6)
3 (9.4)
7 (21.9)
68/56
61 (49.2)
72 (58.1)
64 (51.7)
56 (45.2)
29 (23.4)
27 (21.8)
30 (24.2)
32 (25.8)
15 (12.1)
13 (10.5)
8 (6.5)
12 (9.7)
12 (9.7)
11 (8.9)
7 (5.7)
0 (0.0)
2 (1.6)
4 (3.2)
3 (2.4)
6 (4.8)
P
0.263
0.692
0.002
0.007
0.421
0.360
0.990
0.415
<0.001
0.383
0.009
0.015
0.743
0.346
0.632
0.429
0.205
0.187
0.018
0.101
0.006
Statistically significant results (P<0.05) are indicated in bold.
1
2
3
4
5
6
7
8
9
10
11
12
13 14
15 16
17 18
Figure 1. Representative hybridization patterns obtained with FMF Strip Assay. 1, Wt/Wt; 2, M694V/Wt; 3, P369S/Wt;
4, K695R/Wt; 5, E148Q/R761H; 6, M694V/M694V; 7, M694V/A744S; 8, F479/Wt; 9, R761H/Wt; 10, M694V/V726A;
11, M694V/R761H; 12, R761H/R761H; 13, V726A/Wt; 14, M680I(G/C)/Wt; 15, A744S/Wt; 16, M680I/M694V; 17,
M680I(G/C)/V726A; 18, E148Q/P369S; Wt, wild-type allele.
Journal of Genetics