Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis

Im, Churl Hyun; Kim, Jin Hyun; Lee, Yun Jong; Lee, Eun Young; Lee, Eun Bong; Park, Kyung Sook

doi:10.1007/s00296-011-1939-2

Cited by 7 publications

(3 citation statements)

References 29 publications

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“…Thus, we could not directly compare serum MBL levels between the study groups and healthy controls. Because the distributions of alleles and haplotypes in healthy persons in that study [18] were very similar with those observed in other studies in Korea [31], [32], it is likely that the MBL2 genotypes of healthy controls used in our study accurately reflect those of the general Korean population.…”

Section: Discussionsupporting

confidence: 78%

Association of Mannose-Binding Lectin 2 Gene Polymorphisms with Persistent Staphylococcus aureus Bacteremia

et al. 2014

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ObjectivesMannose-binding lectin (MBL) is an important component of innate immunity. Structural and promoter polymorphisms in the MBL2 gene that are responsible for low MBL levels are associated with susceptibility to infectious diseases. The objective of this study was to investigate the association of serum MBL levels and MBL2 polymorphisms with persistent Staphylococcus aureus bacteremia (SAB) in adult Korean patients.MethodsWe conducted a case-control study nested in a prospective cohort of patients with SAB. The study compared 41 patients with persistent bacteremia (≥7 days) and 46 patients with resolving bacteremia (<3 days). In each subject, we genotyped six single-nucleotide polymorphisms in the promoter region (alleles H/L, X/Y, and P/Q) and exon 1 (alleles A/B, A/C, and A/D) of the MBL2 gene and measured serum MBL concentrations. We also compared MBL2 genotypes between SAB patients and healthy people.ResultsPatients with persistent bacteremia were significantly more likely to have low/deficient MBL-producing genotypes and resultant low serum MBL levels, than were patients with resolving bacteremia (P = 0.019 and P = 0.012, respectively). Independent risk factors for persistent bacteremia were metastatic infection (adjusted odds ratio [aOR], 34.7; 95% confidence interval [CI], 12.83–196.37; P = 0.003), methicillin resistance (aOR, 4.10; 95% CI, 3.19–29.57; P = 0.025), and low/deficient MBL-producing genotypes (aOR, 7.64; 95% CI, 4.12–63.39; P = 0.003). Such genotypes were significantly more common in patients with persistent bacteremia than in healthy people (OR, 2.09; 95% CI, 1.03–4.26; P = 0.040).ConclusionsThis is the first demonstration of an association of low MBL levels and MBL2 polymorphisms responsible for low or deficient MBL levels with persistent SAB. A combination of factors, including clinical and microbiological characteristics and host defense factors such as MBL levels, may together contribute to the development of persistent SAB.

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Section: Discussionsupporting

confidence: 78%

Association of Mannose-Binding Lectin 2 Gene Polymorphisms with Persistent Staphylococcus aureus Bacteremia

et al. 2014

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“…The polymorphisms in exon 1 and the promoter of the monnose-binding lectin gene are reported to be associated with MBL serum levels (18). Polymorphisms in the first exon of the gene, such as codons 52, 54 and 57, are known to decrease functionality by disturbing protein oligomerization (19). Therefore, these structural polymorphisms could predispose individuals to viral and bacterial diseases by affecting the MBL serum levels.…”

Section: Discussionmentioning

confidence: 99%

Investigation of Mannose-binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens Johnson Syndrome and Stevens Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

Karkucak¹,

Bülbül²,

Turan³

et al. 2012

Balkan Med J

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Objective: Monnose-Binding lectin (MBL) appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome).Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results:The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328). Conclusion:Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/ TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size.

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“…MBL ile otoimmunite arasındaki ilişki ise, apoptotik hücrelerin temizlenmesidir. MBL polimorfizmlerinin otoimmun ve inflamatuvar hastalıklara etkileri; sistemik lupus eritematozus (SLE), romatoid artrit (RA) ve ankilozan spondilit gibi hastalıklarda gösterilmiştir (11)(12)(13). Ailesel Akdeniz ateşi hastalarında MEFV geninin kodladığı pyrin (pirin) proteinindeki mutasyon sonucu pro-IL-1'in aktif IL-1'e dönüşümü kontrol edilemez.…”

Section: Introductionunclassified

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

Erken¹,

Kudaş²,

Dinkçi³

et al. 2017

İstanbul Tıp Fakültesi Dergisi

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ÖZET Amaç: Kompleman aktivasyonunun lektin yolağında rol oynayan ve doğal immün sistemin bir parçası olan mannoz bağlayıcı lektin (MBL), çeşitli patojenlerin mannan gruplarının uyarısı ile aktive olur. MBL genindeki bazı polimorfizmler (örn. kodon 52, kodon 54 polimorfizmleri) MBL'nin serum düzeylerinde değişikliklere yol açarak, infeksiyon hastalıklarına yatkınlığa neden olabildiği gibi, bazı otoimmün ve inflamatuvar hastalıkların patogenezine de katkıda bulunabilir. Bu çalışmada, ailesel Akdeniz ateşi (AAA) hastalarında MBL geni kodon 52 ve kodon 54 polimorfizmlerinin sıklığını ve başta sekonder amiloidoz olmak üzere, hastalığın klinik özellikleri ile olası ilişkilerini araştırmayı amaçladık. Gereç ve Yöntem: Yüzelli-yedi AAA hastasında ve hastalarla akrabalık ilişkisi olmayan benzer demografik dağılımdaki 150 sağlıklı kontrolde MBL genindeki R52C C>T ve G54D G>A polimorfizmleri sekanslama yöntemi ile araştırıldı. AAA hastalarının MEFV geni analizleri, klinik özellikleri ve ataksız dönemdeki serum CRP düzeyleri kaydedildi. Genetik sonuçlar ile klinik ve laboratuvar bulgular arasındaki olası ilişkiler incelendi. Bulgular: MBL geni R52C C>T polimorfizmi hastaların %12,7'sinde, kontrol grubunun %10,6'sında saptandı. G54D G>A polimorfizmi hastaların %26,8'sinde, kontrollerin %26,7'sinde saptandı. Polimorfizm sıklığı açısından, iki grup arasında anlamlı fark bulunamadı (p=0,79 ve 0,98). İncelenen MBL geni polimorfizmleri ile hastaların çeşitli klinik özellikleri (ör. amiloidoz, ateş, kolşisin yanıtı, MEFV mutasyonları) arasında anlamlı ilişki bulunamadı. AAA hastalarının ortalama CRP değeri 4,90±6,72 mg/dL olup, ataksız dönemde serum CRP düzeyi normalden yüksek (>0,8 mg/dL) olan hastalarda MBL kodon 52 polimorfizmi sıklığı %25,2, kodon 54 polimorfizmi sıklığı %14,8 oranında bulundu. AAA hastalarında yüksek CRP düzeyine göre kodon 52 ve kodon 54 polimorfizmi sıklıkları farklı bulunmadı (p=0,399). AAA hastalarında M694V mutasyonu ile amiloidoz arasında (p=0,002) ve M694I mutasyonu ile kolşisin direnci arasında (p=0,016) anlamlı ilişki saptandı. Sonuç: AAA hastaların ataksız dönemdeki CRP düzeyleri ve taşıdıkları klinik özellikler ile MBL polimorfizmleri arasında anlamlı ilişki bulunamaması, AAA hastalarının proinflamatuvar durumda olduğunu ve MBL aracılı mekanizmaların bu süreçlere katkısının olmadığını düşündürmektedir. Olgularımızda M694I ile kolşisin direnci arasında anlamlı ilişki saptanmış olması dikkate değer bir bulgudur. Yine olgularımızda M694V ile amiloidoz arasında anlamlı ilişki bulunması önceki literatür bulguları ile uyumludur ve M694V'nin hastalık şiddeti ve prognozu için önemli olduğu görüşünü desteklemektedir.

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Mannose-binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis

Cited by 7 publications

References 29 publications

Association of Mannose-Binding Lectin 2 Gene Polymorphisms with Persistent Staphylococcus aureus Bacteremia

Association of Mannose-Binding Lectin 2 Gene Polymorphisms with Persistent Staphylococcus aureus Bacteremia

Investigation of Mannose-binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens Johnson Syndrome and Stevens Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

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

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