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

Table 1 Allele frequencies of the whole EIRA study group

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 genotype^b
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.

ISSN: 1478-6362