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Mannose Binding Lectin-2 (MBL-2) is a C-type serum lectin synthesized by the liver as an acute phase protein. MBL-
2 gene is located on chromosome 10q11.2- q21. Mannose-binding lectin gene polymorphisms have been associated
with a number of autoimmune disorders. The objective of the present study was to investigate promoter as well as structural
polymorphisms of MBL-2 gene in RA patients and healthy controls. Further objective was to asses and compare serum MBL-2
levels between cases and controls. The present case-control study included 200 RA patients and a cohort of 200 age, gender
and ethnicity matched controls. The study was approved by institutional ethical committee in accordance with declaration of
Helsinki. The genotyping of SNPs rs5030737, rs1800451, rs1800450, rs7096206, rs11003125, rs70958912 were done by ARMSPCR
method. Serum MBL-2 levels were estimated in cases and controls using ELISA kits. Genotypic and allelic frequencies
were compared between RA patients and controls by odds ratio using Medcal software. Genotypic and allelic distribution
of rs11003125 showed significant differences between cases and controls (p<0.01). Furthermore, there was suggestive
evidence of association of this SNP with dominant as well as co-dominant model (p<0.01). However, significant differences
in allelic frequencies of rs1800450 were observed between patients and controls. Genetic analysis indicated dominant mode
of association of rs1800450 with RA. Significantly lower serum MBL-2 levels were observed in RA patients than controls
(p<0.01). Polymorphism in promoter region of gene may act as genetic marker associated with susceptibility towards RA.