Table 3 Genotype and allele frequencies of CSK and PTPN22 gene polymorphisms in HSP patients according to the age at disease onset and the presence/absence of renal and GI manifestations

CSK rs34933034

Genotypes

GG

172 (64.4)

39 (62.9)

-

Ref.

73 (64.0)

138 (64.2)

-

Ref.

122 (70.1)

97 (62.6)

-

Ref.

GA

83 (31.1)

21 (33.9)

0.72

0.90 [0.48-1.71]

37 (32.4)

65 (30.2)

0.77

1.08 [0.64-1.81]

47 (27.0)

49 (31.6)

0.27

0.76 [0.46-1.27]

AA

12 (4.5)

2 (3.2)

0.69

1.36 [0.28-12.9]

4 (3.5)

12 (5.6)

0.43

0.63 [0.14-2.18)

5 (2.9)

9 (5.8)

0.15

0.44 [0.11-1.53]

Alleles

G

427 (80.0)

99 (79.8)

-

Ref.

183 (80.2)

341 (79.3)

-

Ref.

291 (83.6)

243 (78.4)

-

Ref.

A

107 (20.0)

25 (20.2)

0.98

0.99 [0.60-1.69]

45 (19.7)

89 (20.7)

0.77

0.94 [0.62-1.43]

57 (16.4)

67 (21.6)

0.09

0.71 [0.47-1.07]

CSK rs1378942

Genotypes

AA

95 (35.6)

18 (29.0)

-

Ref.

44 (38.6)

69 (32.1)

-

Ref.

64 (36.8)

47 (30.3)

-

Ref.

AC

138 (51.7)

32 (51.6)

0.53

0.82 [0.41-1.60]

58 (50.9)

112 (52.1)

0.41

0.81 [0.48-1.37]

89 (51.1)

81 (52.3)

0.38

0.81 [0.48-1.34]

CC

34 (12.7)

12 (19.4)

0.14

0.54 [0.22-1.36]

12 (10.5)

34 (15.8)

0.12

0.55 [0.24-1.24]

21 (12.1)

27 (17.4)

0.11

0.57 [0.27-1.20]

Alleles

A

328 (61.4)

68 (54.8)

-

Ref.

146 (64.0)

250 (58.1)

-

Ref.

217 (62.4)

175 (56.5)

-

Ref.

C

206 (38.6)

56 (45.2)

0.18

0.76 [0.50-1.16]

82 (36.0)

180 (41.9)

0.14

0.78 [0.55-1.10]

131 (37.6)

135 (43.5)

0.12

0.78 [0.57-1.08]

B. PTPN22 polymorphisms

SNP

Yes (n = 267)

No (n = 62)

p

OR [95 % CI]

Yes (n = 114)

No (n = 215)

p

OR [95 % CI]

Yes (n = 174)

No (n = 155)

p

OR [95 % CI]

PTPN22 rs2476601

Genotypes

GG

229 (85.8)

56 (90.3)

-

Ref.

99 (86.8)

186 (86.5)

-

Ref.

152 (87.4)

133 (85.8)

-

Ref.

GA

37 (13.9)

5 (8.1)

0.23

1.81 [0.67-6.16]

15 (13.2)

26 (12.1)

0.82

1.08 [0.51-2.24]

22 (12.6)

20 (12.9)

0.91

0.96 [0.48-1.95]

AA

1 (0.4)

1 (1.6)

0.28

0.24 [0.003-19.5]

0

3 (1.4)

-

-

0

2 (1.3)

-

-

Alleles

G

495 (92.7)

117 (94.4)

-

Ref.

213 (93.4)

398 (92.6)

-

Ref.

326 (93.7)

286 (92.3)

-

Ref.

A

39 (7.3)

7 (5.6)

0.51

1.32 [0.56-3.58]

15 (6.6)

32 (7.4)

0.68

0.88 [0.43-1.71]

22 (6.3)

24 (7.7)

0.48

0.80 [0.42-1.53]

PTPN22 rs33996649

Genotypes

CC

256 (95.9)

58 (93.5)

-

Ref.

108 (94.7)

206 (95.8)

-

Ref.

165 (94.8)

149 (96.1)

-

Ref.

CT

11 (4.1)

4 (6.5)

0.43

0.62 [0.18-2.78]

6 (5.3)

9 (4.2)

0.66

1.27 [0.36-4.12]

9 (5.2)

6 (3.9)

0.57

1.35 [0.42-4.74]

TT

0

0

-

-

0

0

-

-

0

0

-

-

Alleles

C

523 (97.9)

120 (96.8)

-

Ref.

222 (97.4)

421 (97.9)

-

Ref.

339 (97.4)

304 (98.1)

-

Ref.

T

11 (2.1)

4 (3.2)

0.43

0.63 [0.18-2.77]

6 (2.6)

9 (2.1)

0.66

1.26 [0.37-4.03]

9 (2.6)

6 (1.9)

0.58

1.35 [0.42-4.65]