Table 3 Analysis of PLCL2 rs1372072, NF-κB rs7665090, and IRF8 rs11117432 gene variants in the combined Caucasian populations (French and Italian)

PLCL2 rs1372072

T

TT (%)

TC (%)

CC (%)

SSc (1,597)

0.38

14.65

47.27

38.07

4.01 × 10⁻⁶

7.22 × 10⁻⁵

1.22 (1.12-1.33)

dcSSc (439)

0.38

14.35

46.69

38.95

0.01

0.12

1.19 (1.03-1.37)

SSc, Topo I+ (422)

0.38

13.74

47.86

38.38

0.01

0.09

1.20 (1.03-1.39)

lcSSc (1,028)

0.38

14.68

47.17

38.13

6.37 × 10⁻⁵

4.45 × 10⁻⁴

1.23 (1.11-1.36)

SSc, ACA+ (609)

0.39

15.92

46.96

37.11

6.21 × 10⁻⁵

4.35 × 10⁻⁴

1.29 (1.13-1.46)

Pulmonary fibrosis (565)

0.40

15.57

49.38

35.04

1.29 × 10⁻⁵

9.07 × 10⁻⁵

1.33 (1.17-1.51)

Controls (3,570)

0.33

11.76

43.80

44.42

NA

NA

NA

NF-κB rs7665090

G

GG (%)

AG (%)

AA (%)

SSc (1,590)

0.52

27.98

48.55

23.45

7.19 × 10⁻⁴

0.01

1.15 (1.06-1.25)

dcSSc (438)

0.55

32.64

44.52

22.83

4.93 × 10⁻⁴

0.003

1.28 (1.11-1.47)

SSc, Topo I+ (423)

0.53

28.13

49.40

22.45

0.01

0.12

1.18 (1.03-1.37)

lcSSc (1,025)

0.51

26.24

50.04

23.70

0.03

0.24

1.11 (1.00-1.22)

SSc, ACA+ (611)

0.51

25.53

50.08

24.38

0.20

NS

1.08 (0.95-1.22)

Pulmonary fibrosis (562)

0.54

30.78

46.61

22.59

7.14 × 10⁻⁴

0.004

1.24 (1.09-1.41)

Controls (3,585)

0.48

23.09

51.15

25.74

NA

NA

NA

IRF8 rs11117432

A

AA (%)

AG (%)

GG (%)

SSc (1,500)

0.14

2.03

25.76

72.22

1.56 × 10⁻⁵

2.49 × 10⁻⁴

0.75 (0.67-0.86)

dcSSc (444)

0.15

2.47

25

72.52

0.009

0.06

0.76 (0.62-0.93)

SSc, Topo I+ (423)

0.15

2.83

24.34

72.81

0.01

0.11

0.77 (0.63-0.95)

lcSSc (1,011)

0.14

1.58

26.40

72.00

1.96 × 10⁻⁴

0.001

0.75 (0.65-0.87)

SSc, ACA+ (598)

0.15

2.34

25.41

72.24

0.005

0.04

0.78 (0.65-0.93)

Pulmonary fibrosis (561)

0.15

2.13

25.66

72.19

0.004

0.02

0.76 (0.63-0.91)

Controls (2,290)

0.18

3.44

29.69

66.85

NA

NA

NA