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Table 2 Analysis of PLCL2 rs1372072, NF-κB rs7665090, and IRF8 rs11117432 gene variants in French and Italian populations

From: Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis

SNP, phenotype (n)

MAF

Genotype distribution

P value

P adj a

OR (95% CI)

French Caucasian

       

PLCL2 rs1372072

T

TT (%)

TC (%)

CC (%)

   

SSc (1,021)

0.39

15.40

47.41

37.17

1.97 × 10−4

3.15 × 10−3

1.22 (1.10-1.36)

dcSSc (298)

0.39

15.64

46.93

37.41

0.02

0.39

1.22 (1.03-1.46)

SSc. Topo I+ (233)

0.39

15.51

48.27

36.20

0.02

0.39

1.25 (1.03-1.52)

lcSSc (591)

0.38

15.29

47.07

37.62

4.45 × 10−3

0.07

1.21 (1.06-1.38)

SSc. ACA+ (349)

0.39

16.90

45.77

37.31

5.37 × 10−3

0.08

1.26 (1.07-1.49)

Pulmonary fibrosis (364)

0.40

16.62

48.47

34.90

6.97 × 10−4

0.01

1.32 (1.12-1.55)

Controls (2,384)

0.34

12.31

44.01

43.67

NA

NA

NA

NF-κB rs7665090

G

GG (%)

AG (%)

AA (%)

   

SSc (1,021)

0.52

27.21

49.59

23.18

0.02

0.39

1.12 (1.01-1.25)

dcSSc (298)

0.54

32.29

44.79

22.91

0.01

0.16

1.25 (1.05-1.49)

SSc. Topo I+ (233)

0.54

31.14

47.36

21.49

0.01

0.29

1.26 (1.04-1.53)

lcSSc (591)

0.50

24.95

51.81

23.22

0.26

NS

1.07 (0.94-1.22)

SSc. ACA+ (349)

0.50

23.97

52.04

23.97

0.65

NS

1.04 (0.88-1.22)

Pulmonary fibrosis (364)

0.52

28.53

48.87

22.59

0.05

0.84

1.17 (1.00-1.37)

Controls (2,384)

0.49

23.35

51.31

25.33

NA

NA

NA

IRF8 rs11117432

A

AA (%)

AG (%)

GG (%)

   

SSc (1,021)

0.16

2.53

27.28

70.18

6.52 × 10−3

0.10

0.79 (0.68-0.93)

dcSSc (298)

0.15

2.38

25.25

72.35

0.01

0.22

0.73 (0.56-0.94)

SSc. Topo I+ (233)

0.16

3.52

26.87

69.60

0.23

NS

0.84 (0.64-1.10)

lcSSc (591)

0.16

2.28

29.22

68.48

0.08

NS

0.84 (0.69-1.01)

SSc. ACA+ (349)

0.15

3.28

25.37

71.34

0.04

0.74

0.78 (0.62-0.99)

Pulmonary fibrosis (364)

0.16

2.26

27.76

69.97

0.05

0.82

0.79 (0.63-1.00)

Controls (2,384)

0.19

3.77

31.33

64.88

NA

NA

NA

Italian Caucasian

       

PLCL2 rs1372072

T

TT (%)

TC (%)

CC (%)

   

SSc (607)

0.36

13.36

47.03

39.59

7.76 × 10−3

0.12

1.22 (1.05-1.41)

dcSSc (152)

0.34

11.72

46.20

42.06

0.42

NS

1.11 (0.86-1.44)

SSc. Topo I+ (233)

0.35

11.57

47.36

41.05

0.29

NS

1.13 (0.90-1.42)

lcSSc (455)

0.37

13.90

47.30

38.78

5.55 × 10−3

0.08

1.25 (1.06-1.47)

SSc. ACA+ (349)

0.38

14.66

48.49

36.84

4.49 × 10−3

0.07

1.32 (1.09-1.61)

Pulmonary fibrosis (210)

0.39

13.72

50.98

35.29

7.62 × 10−3

0.12

1.34 (1.08-1.67)

Controls (1,237)

0.32

10.68

43.41

45.89

NA

NA

NA

NF-κB rs7665090

G

GG (%)

AG (%)

AA (%)

   

SSc (607)

0.52

29.66

47.45

24.23

9.00 × 10−3

0.14

1.20 (1.08-1.33)

dcSSc (152)

0.55

33.33

44.02

22.66

0.01

0.31

1.34 (1.03-1.76)

SSc. Topo I+ (233)

0.50

24.61

51.79

23.58

0.38

NS

1.10 (0.81-1.37)

lcSSc (455)

0.51

27.90

47.76

24.33

0.05

0.89

1.16 (0.96-1.34)

SSc. ACA+ (349)

0.51

27.50

47.58

24.90

0.18

NS

1.14 (0.95-1.34)

Pulmonary fibrosis (210)

0.56

34.61

42.78

22.59

2.29 × 10−3

0.04

1.37 (1.17-1.68)

Controls (1,237)

0.48

22.60

50.85

26.53

NA

NA

NA

IRF8 rs11117432

A

AA (%)

AG (%)

GG (%)

   

SSc (607)

0.12

1.17

23.23

75.58

5.47 × 10−4

8.76 × 10−3

0.70 (0.57-0.85)

dcSSc (152)

0.14

2.64

24.50

72.84

0.33

NS

0.83 (0.60-1.17)

SSc. Topo I+ (233)

0.12

2.04

21.42

76.53

0.02

0.44

0.70 (0.51-0.96)

lcSSc (455)

0.12

0.67

22.79

76.52

2.51 × 10−4

4 × 10−3

0.65 (0.52-0.82)

SSc. ACA+ (349)

0.13

1.14

25.47

73.38

0.06

0.97

0.77 (0.59-1.01)

Pulmonary fibrosis (210)

0.12

1.92

22.11

75.96

0.03

0.51

0.71 (0.52-0.96)

Controls (1,237)

0.17

3.15

28.21

68.63

NA

NA

NA

  1. aAfter Bonferroni correction. ACA+, anti-centromere antibody; CI, confidence interval; dcSSc, diffuse cutaneous systemic sclerosis; lcSSc, limited cutaneous systemic sclerosis; MAF, minor allele frequency; n, number of pooled patients analysed; NA, not applicable; NS, not significant; OR, odds ratio; SNP, single-nucleotide polymorphism; SSc, systemic sclerosis; Topo I+, anti-topoisomerase I antibody.