Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients

Haerynck, Filomeen; Steen, Kristel Van; Cattaert, Tom; Loeys, Bart; Daele, S. Van; Schelstraete, Petra; Claes, Kathleen; Thielen, M Van; Canck, I. De; John, Jestinah Mahachie; Baets, Frans De

doi:10.1016/j.humimm.2012.08.010

Cited by 42 publications

(40 citation statements)

References 37 publications

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“…We also found an association of the allelic frequency of the 258S variant with cardiodigestive Chagas disease (Tables 3 and 4). The 258S variant was also found associated by others with earlier onset of Pseudomonas aeruginosa colonization in cystic fibrosis patients [31]. In contrast to our findings, homozygosity for this variant was associated with protection against cutaneous leishmaniasis in Syria [32] and the presence of this allele, with protection against cytomegalovirus, but not bacterial infections, after orthotopic liver transplantation [33], [34].…”

Section: Discussioncontrasting

confidence: 84%

Association of L-Ficolin Levels and FCN2 Genotypes with Chronic Chagas Disease

et al. 2013

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BackgroundL-ficolin (encoded by FCN2) binds to acetylated sugar moieties of many pathogens, including Trypanosoma cruzi, promoting their phagocytosis and lysis by the complement system.MethodsWe investigated L-ficolin levels in 160 T. cruzi infected patients with chronic Chagas disease and 71 healthy individuals, and FCN2 polymorphisms (−986 G>A, −602 G>A, and −4 A>G in the promoter and A258S in exon 8) in 243 patients, being 88 indeterminate (asymptomatic), 96 with cardiac, 23 with digestive and 33 with cardiodigestive manifestations (two were unspecified) and 305 controls (135 for A258S).ResultsPatients presented lower L-ficolin plasma levels than controls (p<0.0001). Among the different groups of cardiac commitment, individuals with moderate forms had higher L-ficolin levels than the severe forms (P = 0.039). Lower L-ficolin levels were found associated with the 258S variant in the patients (P = 0.034). We found less −4A/G heterozygotes in the cardiac patients, than in the controls (OR = 0.56 [95% CI = 0.33–0.94], P = 0.034). Heterozygote −4A/G genotypes with the 258S variant and 258SS homozygotes were nevertheless more frequent among cardiodigestive patients than in controls (OR = 14.1 [95% CI = 3.5–56.8], P = 0.0001) and in indeterminate patients (OR = 3.2 [95% CI = 1.1–9.4], P = 0.037). We also found an association of the allelic frequency of the 258S variant with cardiodigestive Chagas disease compared to controls (OR = 2.24 [95% CI = 1.1–4.5], P = 0.037). Thus, decreased patient levels of L-ficolin reflect not only protein consumption due to the disease process, but also the higher frequency of the 258S variant in patients with cardiodigestive symptoms.ConclusionThe very first study on Brazilian cohort associates both L-ficolin plasma levels and FCN2 variants to Chagas disease and subsequent disease progression. The prognostic value of L-ficolin levels and the FCN2*A258S polymorphism should be further evaluated in other settings.

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Section: Discussioncontrasting

confidence: 84%

Association of L-Ficolin Levels and FCN2 Genotypes with Chronic Chagas Disease

et al. 2013

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“…The A allele frequency in the promoter region (rs989727) and the G allele frequency in a synonymous SNP (Gln275Gln) in exon 9 are increased in RA patients. Cystic fibrosis patients with minor alleles of two linked SNPs in the promoter (rs2989727) and exon 9 (Gln275Gln, rs1071583) in FCN1 are associated with earlier colonization by P. aeruginosa (Haerynck et al, 2012).…”

Section: Gene Polymorphisms Serum Concentrations Of Ficolins and Thementioning

confidence: 99%

New Insights into the Role of Ficolins in the Lectin Pathway of Innate Immunity

Endo

Matsushita

Fujita

2015

International Review of Cell and Molecular Biology

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“…MBL2 had previously shown associations with different disturbances in the lung function, infection risk, and survival of CF patients [6], [45]–[48]. In asthma, MBL has been associated with Chlamydia pneumoniae –specific IgG and a greater risk of developing asthma, especially in children with chronic or recurrent infection [49].…”

Section: Discussionmentioning

confidence: 98%

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

et al. 2014

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Environmental and genetic factors may modify or contribute to the phenotypic differences observed in multigenic and monogenic diseases, such as cystic fibrosis (CF). An analysis of modifier genes can be helpful for estimating patient prognosis and directing preventive care. The aim of this study is to determine the association between seven genetic variants of four modifier genes and CF by comparing their corresponding allelic and genotypic frequencies in CF patients (n = 81) and control subjects (n = 104). Genetic variants of MBL2 exon 1 (A, B, C and D), the IL-8 promoter (−251 A/T), the TNFα promoter (TNF1/TNF2), and SERPINA1 (PI*Z and PI*S) were tested in CF patients and control subjects from northeastern Mexico by PCR-RFLP.ResultsThe TNF2 allele (P = 0.012, OR 3.43, 95% CI 1.25–9.38) was significantly associated with CF under the dominant and additive models but was not associated with CF under the recessive model. This association remained statistically significant after adjusting for multiple tests using the Bonferroni correction (P = 0.0482). The other tested variants and genotypes did not show any association with the disease.ConclusionAn analysis of seven genetic variants of four modifier genes showed that one variant, the TNF2 allele, appears to be significantly associated with CF in Mexican patients.

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Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients

Cited by 42 publications

References 37 publications

Association of L-Ficolin Levels and FCN2 Genotypes with Chronic Chagas Disease

Association of L-Ficolin Levels and FCN2 Genotypes with Chronic Chagas Disease

New Insights into the Role of Ficolins in the Lectin Pathway of Innate Immunity

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

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