title: Low producer MBL genotypes are associated with susceptibility to systemic lupus erythematosus in Odisha, India.
abstract: Variants of MBL gene have been associated with autoimmune disorders. The aim of this study was to explore whether common polymorphisms in MBL gene are associated with susceptibility to systemic lupus erythematosus (SLE) and its clinical manifestations in a cohort from eastern India. A total of 108 female SLE patients and 105 age, sex, and ethnically matched healthy controls were enrolled in the study. MBL2 codon and promoter polymorphisms were genotyped by AS-PCR and dARMS PCR, respectively. Plasma level of MBL was quantified by ELISA. Higher frequency of BB genotype and minor allele (B) was observed in patients of SLE compared to healthy controls (BB genotype: P = 0.0002; OR = 5.75, 95% CI = 2.09-15.76, B allele: P < 0.0001; OR = 2.78, 95% CI = 1.66-4.64). MBL codon 54, H-550L, Y-221X polymorphisms and combined MBL genotypes contributed to plasma MBL levels. Prevalence of MBL low producer genotype (LXA/LYB, LYB/LYB and LXB/LXB) was significantly higher in SLE patients compared to healthy control. (P = 0.005; OR = 3.09, 95% CI = 1.38-6.91). On analysis of clinical manifestations, MBL low producer genotype was significantly associated with autoimmune haemolytic anaemia (P = 0.006; OR = 13.06). Results of the present study indicate MBL2 variants as possible risk factors for development of SLE and clinical manifestation in eastern India.
authors.affiliation: Infectious Disease Biology Group, Institute of Life Sciences, Bhubaneswar, Odisha, India.
authors.forename: Aditya K
authors.initials: AK
authors.lastname: Panda
authors.forename: Jyoti R
authors.initials: JR
authors.lastname: Parida
authors.forename: Rina
authors.initials: R
authors.lastname: Tripathy
authors.forename: Sarit S
authors.initials: SS
authors.lastname: Pattanaik
authors.forename: Balachandran
authors.initials: B
authors.lastname: Ravindran
authors.forename: Bidyut K
authors.initials: BK
authors.lastname: Das
mesh_terms: D000328:Adult; D000483:Alleles; D000744:Anemia, Hemolytic, Autoimmune / Q000097:blood / Q000235:genetics*; D016022:Case-Control Studies; D003062:Codon; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000235:genetics*; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D003062:Codon; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin