Table 3 Frequency of MASP1 and NOD2 polymorphisms in 69 Crohn’s disease patients and 30 healthy controls.

From: Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn’s Disease Patients

SNP

Crohn’s disease patients vs. healthy controls

European allele frequency

Crohn’s disease association P

MBL-MASP activity P

Wild-type

Heterozygous

Homozygous

Ref

Muted

MASP1

 rs850312

C/C: 56.5 vs. 54

C/T: 27.5 vs. 38

T/T: 16 vs. 8

C: 66

T: 34

  

 rs72549154

C/C: 94 vs. 88

C/A: 6 vs. 12

 

C: 97

A: 3

  

 rs3774268

A/A: 64 vs. 78

G/A: 32 vs. 19

G/G: 4 vs. 4

A: 15

G: 85

  

 rs34090319

G/G: 48 vs. 50

G/GG: 46 vs. 42

GG/GG: 6 vs. 8

    

 rs78008995

G/G: 87 vs. 88

G/T: 13 vs. 8

T/T: 0 vs. 4

    

 rs72549251

T/T: 97 vs. 92

T/C: 3 vs. 8

     

 rs16861895

C/C: 69 vs. 35

C/G: 28 vs. 61

G/G: 3 vs. 4

    

 rs16861896

G/G: 69 vs. 35

G/A: 28 vs. 61

A/A: 3 vs. 4

    

 rs72549254

G/G: 69 vs. 35

G/A: 28 vs. 61

A/A: 3 vs. 4

    

NOD2

 rs2066844 (R702W)

C/C: 72 vs. 92

C/T: 28 vs. 8

 

C: 95

T: 5

0.0518

<0.05

 rs2066845 (G908R)

G/G: 88 vs. 88

G/C: 12 vs. 12

 

G: 99

C: 1

  

 rs2066847 (l1007fs)

C/C: 75 vs. 96

C/CC: 22 vs. 4

CC/CC: 3 vs. 0

  

0.0177

 

 rs2076753

G/G: 35 vs. 50

G/T: 36 vs. 46

T/T: 29 vs. 4

  

0.0119

 

 rs2067085

C/C: 55 vs. 35

C/G: 32 vs. 54

G/G: 13 vs. 11

C: 57

G: 43

  

 rs2066842

C/C: 33 vs. 58

C/T: 38 vs. 38

T/T: 29 vs. 4

C: 76

T: 24

0.002

 

 rs2066843

C/C: 33 vs. 58

C/T: 38 vs. 38

T/T: 29 vs. 4

C: 76

T: 24

0.002

 

 rs1861759

T/T: 56 vs. 31

T/G: 30 vs. 54

G/G: 13 vs. 15

T: 58

G: 42

  

 rs5743291

G/G: 91 vs. 85

G/A: 7 vs. 15

A/A: 1 vs. 0

G: 90

A: 10

  

 rs1077861

A/A: 55 vs. 4

T/A: 33 vs. 69

T/T: 12 vs. 27

    
  1. SNP: single nucleotide polymorphism; MBL: mannose-binding lectin; MASP: mannose-associated serine protease.