title: Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples.
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=6.35x10(-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.
authors.affiliation: Institute of Genomics and Integrative Biology, Delhi University Campus, Mall Road, Delhi 110 007, India.
authors.forename: Bhawna
authors.initials: B
authors.lastname: Gupta
authors.affiliation: Institute of Genomics and Integrative Biology, Delhi University Campus, Mall Road, Delhi 110 007, India.
authors.forename: Charu
authors.initials: C
authors.lastname: Agrawal
authors.affiliation: Institute of Genomics and Integrative Biology, Delhi University Campus, Mall Road, Delhi 110 007, India.
authors.forename: Sunil K
authors.initials: SK
authors.lastname: Raghav
authors.affiliation: Institute of Genomics and Integrative Biology, Delhi University Campus, Mall Road, Delhi 110 007, India.
authors.forename: Swapan K
authors.initials: SK
authors.lastname: Das
authors.affiliation: Institute of Genomics and Integrative Biology, Delhi University Campus, Mall Road, Delhi 110 007, India.
authors.forename: Rakha H
authors.initials: RH
authors.lastname: Das
authors.affiliation: Department of Rheumatology, Army Hospital, New Delhi 110010, India.
authors.forename: Ved P
authors.initials: VP
authors.lastname: Chaturvedi
authors.affiliation: Institute of Genomics and Integrative Biology, Delhi University Campus, Mall Road, Delhi 110 007, India. hdas@igib.res.in.
authors.forename: Hasi R
authors.initials: HR
authors.lastname: Das
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics*; D016000:Cluster Analysis; D017931:DNA Primers; D040461:Gene Components; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin