Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch–Schönlein purpura in childhood. (28th February 2014)

• Record Type: Journal Article
• Authors: Durmaz, Burak; Aykut, Ayca; Hursitoglu, Gultac; Bak, Mustafa; Serdaroglu, Erkin; Onay, Huseyin; Ozkinay, Ferda
• Is Part Of: International journal of rheumatic diseases. Volume 17:Number 3(2014)
• Page Start: 317
• Page End: 320
• Publication Date: 2014-02-28
• Subjects: Rheumatology -- Periodicals; Rheumatology -- Asia -- Periodicals; Rheumatology -- Pacific Area -- Periodicals; Rheumatic Diseases -- Periodicals; Connective Tissue Diseases -- Periodicals; Immune System Diseases -- Periodicals; 616.723
• DOI: 10.1111/1756-185X.12321
• Languages: English
• ISSNs: 1756-1841

Abstract

<abstract abstract-type="main" id="apl12321-abs-0001"> <title>Abstract</title> <sec id="apl12321-sec-0001" sec-type="section"> <title>Aim</title> <p>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. <italic>MBL</italic> polymorphisms in the <italic>MBL</italic> gene cause predisposition to infectious and autoimmune diseases. There is no study in the literature investigating the association between <italic>MBL</italic> polymorphisms and Henoch–Schönlein purpura (HSP) to date. Therefore, the aim of this study is to determine the presence of any association between <italic>MBL</italic> gene variants and HSP in a child population.</p> </sec> <sec id="apl12321-sec-0002" sec-type="section"> <title>Method</title> <p>Codon 54 polymorphism in exon 1 of the <italic>MBL</italic> 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.</p> </sec> <sec id="apl12321-sec-0003" sec-type="section"> <title>Results</title> <p>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.</p> </sec> <sec id="apl12321-sec-0004" sec-type="section"> <title>Conclusion</title> <p>These results suggest that codon 54 polymorphism in the <italic>MBL</italic> gene may hardly play a role in susceptibility to HSP in children, the first time this has been reported in the literature.</p> </sec> </abstract>