|
Position
|
Genotype
a
|
Cases
|
Controls
|
|---|
|
Promoter/-221 nt (rs 7096206)
| | | |
| |
CC (YY)
|
1,130
|
609
|
| |
CG (XY)
|
542
|
310
|
| |
GG (XX)
|
65
|
51
|
| |
Missing
|
49
|
59
|
|
Exon 1
| | | |
|
Codon 52/223 nt (rs 5030737)
| | | |
| |
CC (AA)
|
1,420
|
826
|
| |
CT (AD)
|
282
|
148
|
| |
TT (DD)
|
14
|
10
|
| |
Missing
|
70
|
45
|
|
Codon 54/230 nt (rs 1800450)
| | | |
| |
GG (AA)
|
1,253
|
701
|
| |
AG (AB)
|
422
|
257
|
| |
AA (BB)
|
41
|
26
|
| |
Missing
|
70
|
45
|
|
Codon 57/239 nt (rs 1800451)
| | | |
| |
GG (AA)
|
1,643
|
955
|
| |
AG (AC)
|
71
|
29
|
| |
AA (CC)
|
2
|
0
|
| |
Missing
|
70
|
45
|
|
Exon 1 haplotype
| | | |
|
Wild-type
|
A/A
|
947
|
544
|
|
Heterozygous
|
0/A
|
657
|
373
|
|
Homozygous
|
0/0
|
112
|
67
|
| |
Missing
|
70
|
45
|
|
Functional MBL genotypeb
| | | |
|
High
|
YA/YA+YA/XA
|
863
|
467
|
|
Low
|
YA/0, 0/0, XA/0, XA/XA
|
803
|
453
|
| |
Missing
|
120
|
109
|
- aThe nomenclature of the mannan-binding lectin (MBL) literature is shown within parentheses. b0 refers to carrying any one of the exon 1 minor alleles (B, C, or D) and A is the major allele. The promoter minor allele X is in linkage equilibrium with the A major allele of exon 1. 0/0 refers to DD, BB, CC, or compound heterozygotes: BD, BC, or CD. EIRA, Epidemiological Investigation of Rheumatoid Arthritis.
