title: Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhood.
abstract: OBJECTIVE
  Immune and inflammatory response activation is a common feature of systemic vasculitis. There is a protein called mannose binding lectin (MBL) that was reported to play an important role in innate immunity. MBL polymorphisms in the MBL gene cause predisposition to infectious and autoimmune diseases. There is no study in the literature investigating the association between MBL polymorphisms and Henoch-Schönlein purpura (HSP) to date. Therefore, the aim of this study is to determine the presence of any association between MBL gene variants and HSP in a child population.
  
  
  METHODS
  Codon 54 polymorphism in exon 1 of the MBL gene was investigated by polymerase chain reaction - restriction fragment length polymorphism method in 100 children diagnosed as having HSP and 100 age-matched healthy controls.
  
  
  RESULTS
  The mutant B allele frequency was not significantly higher in the patient group (16%) compared to the control group (14%). AB genotype was found to be 28% and 26% in the patient group and healthy control group, respectively. AA genotype was found in 70% of the children with HSP and 73% of the healthy control group.
  
  
  CONCLUSIONS
  These results suggest that codon 54 polymorphism in the MBL gene may hardly play a role in susceptibility to HSP in children, the first time this has been reported in the literature.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Burak
authors.initials: B
authors.lastname: Durmaz
authors.forename: Ayca
authors.initials: A
authors.lastname: Aykut
authors.forename: Gultac
authors.initials: G
authors.lastname: Hursitoglu
authors.forename: Mustafa
authors.initials: M
authors.lastname: Bak
authors.forename: Erkin
authors.initials: E
authors.lastname: Serdaroglu
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D003062:Codon; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011695:IgA Vasculitis / Q000235:genetics* / Q000276:immunology; D007113:Immunity, Innate; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D003062:Codon; D037601:Mannose-Binding Lectin
keywords: Henoch-Schönlein purpura; mannose binding lectin; polymorphism