Abstract
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=6.35×10−6) lower in RA patients. We replicated this association (P=1.78×10−5) 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.
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Acknowledgements
The authors wish to thank the Council of Scientific and Industrial Research, India, for financial assistance and Mr. A.N. Sirkey of Army Hospital, Department of Rheumatology, for his constant support during the collection of blood samples from the patients. We also thank the Director, Institute of Genomics and Integrative Biology, India, for providing the facility for sequencing.
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Gupta, B., Agrawal, C., Raghav, S.K. et al. Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples. J Hum Genet 50, 583–591 (2005). https://doi.org/10.1007/s10038-005-0299-8
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DOI: https://doi.org/10.1007/s10038-005-0299-8
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