title: Mannose binding lectin and macrophage migration inhibitory factor gene polymorphisms in Turkish children with cardiomyopathy: no association with MBL2 codon 54 A/B genotype, but an association between MIF -173 CC genotype.
abstract: Myocardial inflammation is one of the commonest mechanisms in cardiomyopathy (CMP). Mannose binding lectin (MBL) is a key molecule in innate immunity, while macrophage migration inhibitory factor (MIF) is a constitutive element of the host defenses. We investigated the possible association between polymorphisms of MBL2 and MIF genes and CMP in Turkish children. Twenty-children with CMP and 30 healthy controls were analyzed for codon 54 A/B polymorphism in MBL, and -173 G/C polymorphism in MIF genes by using PCR-RFLP methods. No significant difference was found between genotypes and alleles of MBL2 gene codon 54 A/B polymorphism in patients and controls (p>0.05). However, serum uric acid levels was found higher in dilated CMP patients with AA genotype. Frequency of MIF -173 CC genotype was significantly higher in patients (p<0.05), and sodium levels were higher in patients with MIF -173 CC genotype. This study is the first to investigate the MBL and MIF gene polymorphisms in Turkish children with CMP. We conclude that CC genotype of MIF (-173) polymorphism may be a risk factor for CMP patients. However, further studies with larger samples are needed to address the exact role of this polymorphism in CMP.
authors.affiliation: University of Gaziantep, Faculty of Medicine, Department of Pediatrics, Gaziantep, Turkey.
authors.forename: Nilgun
authors.initials: N
authors.lastname: Col-Araz
authors.forename: Sibel
authors.initials: S
authors.lastname: Oguzkan-Balci
authors.forename: Osman
authors.initials: O
authors.lastname: Baspinar
authors.forename: Tugce
authors.initials: T
authors.lastname: Sever
authors.forename: Ayse
authors.initials: A
authors.lastname: Balat
authors.forename: Sacide
authors.initials: S
authors.lastname: Pehlivan
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008263:Macrophage Migration-Inhibitory Factors / Q000235:genetics*; D037601:Mannose-Binding Lectin / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D014421:Turkey
chemical_list: C445619:MBL2 protein, human; D008263:Macrophage Migration-Inhibitory Factors; D037601:Mannose-Binding Lectin