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Table 1 Allele frequencies of the whole EIRA study group

From: Mannan Binding Lectin (MBL) genotypes coding for high MBL serum levels are associated with rheumatoid factor negative rheumatoid arthritis in never smokers

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
  1. 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.