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Table 3 Allele and genotype frequencies for 9 SNPs in MRC1 among subjects with sarcoidosis and control subjects

From: Genetic variants in mannose receptor gene (MRC1) confer susceptibility to increased risk of sarcoidosis

SNP ID

Locus*

Role

AA change

Allele

Controls n (%)

Cases n (%)

P †

Genotype

Controls n (%)

Cases n (%)

P ‡

rs2477637

12555

intron1

none

A

547 (64.5)

213 (58.8)

0.062

AA

180 (42.5)

73 (40.3)

0.016

    

G

301 (35.5)

149 (41.2)

 

AG

187 (44.1)

67 (37.0)

 
        

GG

57 (13.4)

41 (22.7)

 

rs2253120

13789

exon2

none

G

638 (75.2)

253 (69.9)

0.053

GG

250 (59.0)

86 (47.5)

0.016

    

A

210 (24.8)

109 (30.1)

 

AG

138 (32.5)

81 (44.8)

 
        

AA

36 (8.5)

14 (7.7)

 

rs2477631

17023

intron2

none

A

443 (52.2)

191 (52.8)

0.868

AA

120 (28.3)

46 (25.4)

0.296

    

C

405 (47.8)

171 (47.2)

 

AC

203 (47.9)

99 (54.7)

 
        

CC

101 (23.8)

36 (19.9)

 

rs2477664

24351

exon4

none

A

455 (53.7)

191 (52.8)

0.776

AA

131 (30.9)

49 (27.1)

0.412

    

T

393 (46.3)

171 (47.2)

 

AT

193 (45.5)

93 (51.4)

 
        

TT

100 (23.6)

39 (21.5)

 

rs692527

31598

intron5

none

A

474 (55.9)

184 (50.8)

0.105

AA

130 (30.7)

50 (27.6)

0.145

    

G

374 (44.1)

178 (49.2)

 

AG

214 (50.5)

84 (46.4)

 
        

GG

80 (18.9)

47 (26.0)

 

rs1926736

40240

exon7

Gly/Ser

G

443 (52.2)

198 (54.7)

0.433

GG

111 (26.2)

56 (30.9)

0.455

    

A

405 (47.8)

164 (45.3)

 

AG

221 (52.1)

86 (47.5)

 
        

AA

92 (21.7)

39 (21.5)

 

rs544995

111041

3'-UTR

none

G

598 (70.5)

254 (70.2)

0.957

GG

200 (47.2)

88 (48.6)

0.526

    

A

250 (29.5)

108 (29.8)

 

AG

198 (46.7)

78 (43.1)

 
        

AA

26 (6.1)

15 (8.3)

 

rs544995

111065

3'-UTR

none

G

522 (63.4)

239 (66.0)

0.159

GG

163 (38.4)

75 (41.4)

0.148

    

A

326 (39.6)

123 (34.0)

 

AG

196 (46.2)

89 (49.2)

 
        

AA

65 (15.3)

17 (9.4)

 

rs691005

111380

3'-UTR

none

T

576 (67.9)

226 (62.4)

0.064

TT

191 (45.0)

79 (43.6)

0.003

    

C

272 (32.1)

136 (37.6)

 

TC

194 (45.8)

68 (37.6)

 
        

CC

39 (9.2)

34 (18.8)

 
  1. * Nucleotide numbering starts from the first nucleotide of the transcription start site.
  2. † Allele frequencies of each SNP were compared between sarcoidosis and controls by χ2 test (2 × 2).
  3. ‡ Overall genotype differeneces were compared between sarcoidosis and controls by χ2 test (2 × 3).
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