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Table 1 Epidemiological, clinical, and biological characteristics of familial and sporadic sarcoid patients

From: Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

Data

Number

Familial cases

Sporadic cases

Univariate model raw p value*

Multivariate model p value

Epidemiological data

 N

463

207 (44.7%)

256 (55.3%)

  

 Sex

463

  

0.49

 

  Male

201

86 (41.6%)

115 (44.9%)

 

0.20

  Female

262

121 (58.4%)

141 (55.1%)

 

Ref.

 Age at diagnosis

424

  

0.001 [0.021]

0.016

  Mean ± SD

 

38.2 ± 13.1

43.0 ± 15.5

  

  Median [q1; q3]

 

35.5 [29.3; 46.2]

40.3 [30.6; 54.0]

  

 Ethnicity

303

  

0.85

 

  European

235

112 (77.2%)

123 (77.9%)

  

  Caribbean or Sub-Saharan African

68

33 (22.8%)

35 (22.1%)

  

 Smokers

381

  

0.43

 

  Yes

156

56 (38.4%)

100 (42.6%)

  

  No

225

90 (61.6%)

135 (57.4%)

  

Clinical data at diagnosis

 Disease onset

401

  

0.015 [0.28]

 

  Asymptomatic

137

45 (27.3%)

92 (39.0%)

  

  Symptomatic

264

120 (72.7%)

144 (61.0%)

  

 Löfgren syndrome

378

  

0.26

 

  Yes

58

29 (17.8%)

29 (13.5%)

  

  No

320

134 (82.2%)

186 (86.5%)

  

 Number of organs involved

414

  

0.144

 

  1

158

69 (39.9%)

89 (36.9%)

  

  2

117

36 (20.8%)

81 (33.6%)

  

  3

70

29 (16.8%)

41 (17.0%)

  

   ≥ 4

69

39 (22.5%)

30 (12.5%)

  

 Organs involved

414

  

<0.001 [0.003]

 

  Lungs only

148

68 (39.31%)

80 (33.2%)

 

0.65

  Lungs and Eyes

53

10 (5.78%)

43 (17.84%)

 

0.076

  Lungs and Skin

21

15 (8.67%)

6 (2.49%)

 

0.041

  Other organs

192

80 (46.24%)

112 (46.47%)

 

Ref

 X-ray staging

456

  

0.20

0.78

  0

68

40 (19.8%)

28 (11.0%)

  

  1

162

66 (32.7%)

96 (37.8%)

  

  2

157

69 (34.2%)

88 (34.7%)

  

  3

48

15 (7.4%)

33 (13.0%)

  

  4

21

12 (5.9%)

9 (3.5%)

  

PFT at first visit

 TLC (%)

215

  

0.93

 

   < 80%

47

18 (22.2%)

29 (21.6%)

  

   ≥ 80%

168

63 (77.8%)

105 (78.4%)

  

 FEV1/FVC

242

  

0.43

 

   < 70%

55

18 (20.0%)

37 (24.3%)

  

   ≥ 70%

187

72 (80.0%)

115 (75.7%)

  

Biology at first visit

 Bronchoalveolar lavage lymphocytes (%)

95

  

0.171

 

   < 10

23

3 (11.6%)

20 (29.0%)

  

  [10; 20]

17

5 (19.2%)

12 (17.4%)

  

   > 20

55

18 (69.2%)

37 (53.6%)

  

 Calcemia

256

  

0.80

 

   < 2.25

52

21 (22.6%)

31 (19.0%)

  

  [2.25 - 2.5]

182

64 (68.8%)

118 (72.4%)

  

   > 2.5

22

8 (8.6%)

14 (8.6%)

  

Treatment

 Treatment

463

  

<0.001 [0.008]

 

  None

136

79 (38.2%)

57 (22.3%)

  

  At least one

327

128 (61.8%)

199 (77.7%)

  

 Type of treatment

327

  

0.188

 

  Corticosteroids only

186

67 (52.3%)

119 (59.8%)

  

  Other treatment

141

61 (47.7%)

80 (40.2%)

  

Pattern of disease course

 SCAC

414

  

0.003 [0.0497]

 

  1- symptomatic - no treatment

48

30 (18.1%)

18 (7.3%)

  

  2- symptomatic - treatment ≤ 12 mo.

47

18 (10.8%)

29 (11.7%)

  

  3- symptomatic - treatment > 12 mo.

172

72 (43.4%)

100 (40.3%)

  

  4- asymptomatic - no treatment

51

19 (11.5%)

32 (12.9%)

  

  5- asymptomatic - treatment ≤ 12 mo.

16

7 (4.2%)

9 (3.6%)

  

  6- asymptomatic - treatment > 12 mo.

80

20 (12.0%)

60 (24.2%)

  

 Classification of outcome

138

  

0.165**

 

  1- recovery within 3 years

72

24 (57.14%)

48 (50%)

  

  2- recovery between 3 and 5 years

32

6 (14.29%)

26 (27.08%)

  

  3- no recovery at 5 years

30

12 (28.57%)

18 (18.75%)

  

  4- death

4

0 (0%)

4 (4.17%)

  

Genetic data

 BTNL2

436

  

0.17***

0.39***

  BTNL2 A/A

201

89 (47.8%)

112 (44.8%)

  

  BTNL2 A/G

194

84 (45.2%)

110 (44.0%)

  

  BTNL2 G/G

41

13 (7.0%)

28 (11.2%)

  
  1. *Significant raw p-values are followed by corrected p-values (Bonferroni correction) in brackets
  2. **Small “Death” category excluded
  3. ***G/G vs. G/A + A/A