Mannose Binding Lectin (Mbl) Gene Polymorphisms and Their Relations With Clinical Features in Patients With Familial Mediterranean Fever (Fmf)

Erken, Ertuğrul; Kudaş, Özlem; Dinkçi, Suzan; Kuyucu, Yunus Emre; Taşlıyurt, Türker; Erken, Eren

doi:10.18017/iuitfd.348847

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…19 Genetic polymorphisms in the MBL2 gene can interfere with the protein assembly, causing low serum levels of MBL, impairing its biological function, enhancing susceptibility to infectious diseases, and mediating various autoimmune as well as inflammatory disorders. 18,20,21 This study aimed to investigate MBL serum levels and (gly54asp -rs1800450) polymorphism in RAS patients to evaluate whether MBL can be used as a future therapeutic target in these patients.…”

Section: Introductionmentioning

confidence: 99%

Mannose-binding lectin serum levels and (Gly54asp) gene polymorphism in recurrent aphthous stomatitis: A case-control study

Baioumy

Fouad

Abdalgeleel

et al. 2021

Int J Immunopathol Pharmacol

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Objectives: Dysregulation of the immune response appears to play a significant role in recurrent aphthous stomatitis (RAS) development. The main objective of this case–control study is to investigate the blood levels of mannose-binding lectin (MBL) and the frequency of the MBL2 gene (gly54asp) polymorphism in RAS patients, including 40 RAS patients and 40 healthy controls. Methods: Serum MBL levels were determined by ELISA, while the PCR-restriction fragment length polymorphism was used in MBL2 genotyping. Results: The median serum MBL level was significantly lower in the RAS group than in the control group (975 ng/mL (545–1320) vs. 1760 ng/mL (1254–2134); p≤ 0.001). The MBL levels were significantly lower in the BB genotype, whereas they were significantly higher in the wild type AA with a median of 525 and 1340 ng/mL, respectively ( p =0.005). The B allele was expressed in significantly higher percentages of RAS patients than in controls. There was no significant association between MBL serum levels ( p=0.685) or MBL2 codon 54 genotypes ( p=0.382) with the type of ulcers. Conclusion: There was an association between low MBL serum levels and the variant allele B of the MBL2 (gly54asp) gene, and the susceptibility to RAS. As a result, potential novel therapeutic options for RAS patients with MBL deficiency should be investigated.

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Section: Introductionmentioning

confidence: 99%

Mannose-binding lectin serum levels and (Gly54asp) gene polymorphism in recurrent aphthous stomatitis: A case-control study

Baioumy

Fouad

Abdalgeleel

et al. 2021

Int J Immunopathol Pharmacol

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“…As a result, frequent respiratory tract infections cannot be explained by low serum MBL levels. A study with adult patients with FMF having MBL gene R52CC>T and G54DG>A polymorphisms showed that the frequency was not different from healthy individuals [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

High Respiratory Tract Infection Rate in Patients With Familial Mediterranean Fever

Hangül¹,

Akman²,

Koyun³

et al. 2022

Cureus

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BackgroundFamilial Mediterranean fever (FMF) is a systemic autoinflammatory disease genetically transmitted with the autosomal recessive trait. Although the pathogenesis is not certain, it is known that there is a deficiency in the regulation of the natural immune system. In this study, we aimed to search whether patients with FMF are predisposed to respiratory tract infections and whether mannose-binding lectin (MBL), as a natural immune system member, contributes to it. MethodsFifty FMF patients and 20 control groups were enrolled in the study. First, the frequencies of upper respiratory tract infection (URTI) within the previous year of both patient and control groups were evaluated retrospectively. Then, both groups were followed up for URTI for one year after starting the study. The patient's immunoglobulin A (IgA), IgM, IgG, C-reactive protein (CRP), hemogram parameters, and mannosebinding lectin were evaluated. ResultsThe median frequency of annual URTI with a retrospective evaluation of patients was higher than that of the control group. Also, the median frequency of URTI with the prospective evaluation of patients with FMF was higher than the control group. The rate of patients with low serum IgG levels was higher in the patient group than in the control group. However, serum IgG levels of FMF patients with frequent URTI were not different from those without. The median MBL levels of both groups were similar (1312 vs. 1534 ng/ml for the patient and control group, respectively). The rate of patients having low serum MBL levels was also similar between the groups. ConclusionsIn the present study, we found that patients with FMF had more URTI than healthy controls. However, the underlying cause is not fully explained. There is a need for further studies with a higher number of patients evaluating URTI in patients with FMF.

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Evaluation of the relationship between genetic variation of single nucleotide RNA MBL2 and risk of salivary gland tumor in Southwest Iran

Rezazadeh,

Fattahi

et al. 2023

Preprint

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Background Salivary gland tumors (SGTs) are rare and diagnostically challenging. Genetic factors likely influence SGT susceptibility. Mannose-binding lectin (MBL) plays a key role in inflammation and immunity. Variants in the MBL2 gene can reduce MBL levels and have been linked to cancer risk. Long noncoding RNAs (lncRNAs) regulate gene expression and are dysregulated in tumors. This study explored associations between MBL2 polymorphisms and SGTs. Methods Ninety-nine SGT patients and fifty-nine healthy controls were recruited in Shiraz, Iran. DNA was extracted and genotyped using PCR and sequencing. MBL2 rs11003125 was analyzed using logistic regression under genetic models. LncRNA expression was evaluated in tumors. Results The GC genotype of rs11003125 was significantly associated with reduced SGT risk compared to GG under codominant (OR 0.30, p = 0.0008) and dominant (OR 0.33, p = 0.001) models. The C allele was associated with lower risk under overdominance (OR 0.49, p = 0.01). MBL2 expression was upregulated in tumors versus controls. No correlations existed between MBL2 variants and tumor features. Conclusions This first study of MBL2 and SGTs found that the GC genotype and C allele were associated with decreased SGT susceptibility. MBL2 upregulation in tumors warrants further exploration. These preliminary findings suggest that MBL2 polymorphisms may contribute to SGT risk in this population.

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Mannose Binding Lectin (Mbl) Gene Polymorphisms and Their Relations With Clinical Features in Patients With Familial Mediterranean Fever (Fmf)

Cited by 3 publications

References 15 publications

Mannose-binding lectin serum levels and (Gly54asp) gene polymorphism in recurrent aphthous stomatitis: A case-control study

Mannose-binding lectin serum levels and (Gly54asp) gene polymorphism in recurrent aphthous stomatitis: A case-control study

High Respiratory Tract Infection Rate in Patients With Familial Mediterranean Fever

Evaluation of the relationship between genetic variation of single nucleotide RNA MBL2 and risk of salivary gland tumor in Southwest Iran

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