Investigation of frequency and relationship with clinical features mannose binding lectin gene polymorphism in spondiloartropathy

Objectives: Genetic and environmental factors are known to play a role in the pathogenesis of spondyloarthropathies (SPA). Mannose binding lectin (MBL) which is a member of collectin family proteins, is an important component of innateimmunity. Low levels of MBL is associated with susceptibility to infections. Several variants of MBL gene may result in MBL deficiency. MBL gene polymorphisms and MBL deficiency are shown to be related with several autoimmune andinflammatory diseases. The relationship between the MBL levels or MBL gene polymorphisms and SPA predisposition haspreviously been investigated in a few small studies with conflicting results. In this particular study, we aimed to assessthe relationship of the MBL genes in the develepoment of SPA in a group of Turkish patients. Methods: Study included 132 patients with SPA (75 female, 57 male, mean age: 43.0±12.4) and 87 healthy subjects (58 women, 29 men, mean age: 40.3±13.4) as control group. Eighty nine of the SPA patients had ankylosing spondylitis (AS) and 43 had non-AS SPA. MBL gene single nucleotide polymorphisms (SNP) in the codons 52, 54 and 57 of exon 1 were studied by sequencing method. Genetic polymorphisms and their associations with susceptibility and the clinical characteristics of SPA were analyzed using by SPSS program version 23.0. Results: G54D G>A polymorphism was not different between the patient and the healthy control groups (p=0.291). Thefrequencies of R52C C>T and G57E G>A polymorphisms were found to be significantly higher in the SPA patients thanthose of the healthy controls (p=0.019 and 0.001 respectively). While the non-AS subgroup showed significancy for both R52C C>T and G57E G>A polymorphisms (p=0.004 and 0.000 respectively), the AS subgroup showed significancyonly for G57E G>A (p=0.113 and 0.014 respectively). Clinical characteristics of either AS or non-AS SPA patients werenot associated with any of the MBL polymorphisms. In a previous study, haplotypes of MBL genetic polymorphismswere found to be associated with AS in Korean patients. Our study is the first one from Turkey indicating the relationshipbetween SPA's and MBL gene polymorphisms. Conclusions: Even though we had rather small sample size, our results showed significantly higher R52C C>T andG57E G>A polymorphisms in Turkish patients with SPA. Therefore we may suggest that MBL gene polymorphisms couldbe related with the predisposition of the disease Keywords:Spondiloartropathy,mannose binding lectin gene polymorphism, Ankylosing spondylitis