Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples

J Hum Genet. 2005;50(11):583-591. doi: 10.1007/s10038-005-0299-8. Epub 2005 Oct 12.


Single nucleotide polymorphisms in the mannose-binding lectin (MBL2) gene, as well as the serum MBL2 level, have been associated with various autoimmune diseases. We investigated whether such polymorphisms and/or the serum MBL2 level were associated with rheumatoid arthritis (RA) in an Indian population. The frequency of the B variant (codon 54) of the MBL2 gene was quite frequent in the healthy Indian population and was significantly (P=6.35x10(-6)) lower in RA patients. We replicated this association (P=1.78x10(-5)) in an independent cohort of control individuals. Promoter polymorphism at -550 nt showed a significant overrepresentation (P=0.003) of the minor allele G in severe RA patients compared with the less severe group. Haplotype LYA frequency was significantly (P=0.03) high in the less severe group, while the frequency of the HYA haplotype was significantly (P=0.04) increased in the severe RA patients. No statistically significant difference in serum MBL2 was observed as a whole, but the individuals homozygous for the LYA haplotype had significantly lower (P=0.017) serum MBL2 levels compared with individuals homozygous for the HYA haplotype. Therefore, the B variant of the MBL2 gene may be associated with protection from RA in our study population, and the promoter polymorphism (-550 nt) seems to have some role in disease progression.

Publication types

  • Comparative Study

MeSH terms

  • Arthritis, Rheumatoid / genetics*
  • Cluster Analysis
  • DNA Primers
  • Gene Components
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics
  • Humans
  • India
  • Linkage Disequilibrium
  • Mannose-Binding Lectin / blood
  • Mannose-Binding Lectin / genetics*
  • Polymorphism, Genetic*
  • Sequence Analysis, DNA


  • DNA Primers
  • MBL2 protein, human
  • Mannose-Binding Lectin