title: Mannose binding lectin (MBL) 2 gene polymorphism & its association with clinical manifestations in systemic lupus erythematosus (SLE) patients from western India.
abstract: OBJECTIVE
  Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies. Mannose binding lectin (MBL) is an important element of the innate defense system. t0 he present study was undertaken to determine whether variant alleles in MBL2 gene were associated with disease severity in SLE patients.
  
  
  METHODS
  The MBL alleles [-550, -221, +4, Codon 52, Codon 54 and Codon 57] were studied by PCR- RFLP (restriction fragment length polymorphism) method in 100 SLE patients fulfilling ACR (American College of Rheumatology) criteria along with 100 healthy controls. SLE disease activity was evaluated using SLE Disease Activity Index (SLEDAI) score.
  
  
  RESULTS
  Homozygosity for MBL variant allele (O/O) was observed in 24 per cent of the SLE patients compared to 16 per cent of the normal controls, while no difference was found for heterozygosity (A/O) (37 vs 35%). A significant difference was reported in incidence of double heterozygosity for mutant allele B and D (B/D) among SLE patients as against control group ( p = 0.015). MBL genotypes did not show any association with renal involvement.
  
  
  CONCLUSIONS
  In this study from western India, MBL gene polymorphism showed an influence as a possible risk factor for susceptibility to SLE, but had no direct effect on disease characteristics. Further studies need to be done on a larger number of SLE patients in different regions of the country.
authors.forename: Vandana
authors.initials: V
authors.lastname: Pradhan
authors.forename: Prathamesh
authors.initials: P
authors.lastname: Surve
authors.forename: Anjali
authors.initials: A
authors.lastname: Rajadhyaksha
authors.forename: Vinod
authors.initials: V
authors.lastname: Rajendran
authors.forename: Manisha
authors.initials: M
authors.lastname: Patwardhan
authors.forename: Vinod
authors.initials: V
authors.lastname: Umare
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: National Institute of Immunohaematology (ICMR) , King Edward Memorial Hospital, Mumbai, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007194:India; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin