Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

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

doi:10.1016/j.humimm.2013.08.282

Cited by 18 publications

(20 citation statements)

References 39 publications

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“…However, the TLR2 polymorphism rs1898830 has been associated with maternal atopy, bronchiolitis obliterans, and pulmonary tuberculosis in previous studies (Chen et al, 2010;Kastelijn et al, 2010;Liu et al, 2011). rs1898830, which is located in the intron region of TLR2, can cause the decline of lung function in cystic fibrosis patients (Haerynck et al, 2013). Moreover, Taniguchi et al (2013) have reported that the genotype AG in rs1898830 is associated with congenital cytomegalovirus infection.…”

Section: Discussionmentioning

confidence: 99%

Association of TLR2 and TLR4 non-missense single nucleotide polymorphisms with type 2 diabetes risk in a southern Chinese population: a case-control study

Huang¹,

Nie²,

Zhang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Toll-like receptors (TLRs), the triggers of the innate and adaptive immune responses, are involved in the pathogenesis of type 2 diabetes mellitus (T2DM). Several studies have investigated the effects of genetic polymorphisms in TLR4 and TLR2, but they have yielded limited results. We investigated whether non-missense genetic TLR2 and TLR4, and susceptibility to type 2 diabetes polymorphisms in the regulatory regions of TLR4 and TLR2 were related to T2DM in a southern Chinese population. Single nucleotide polymorphisms (SNPs) in TLR4 (rs1927911, rs11536889, rs1927907, rs1927906, rs1927914, rs7873784, and rs2149356) and TLR2 (rs1898830, rs3804099, rs4696480, and rs3804100) were genotyped in 552 T2DM and 552 unrelated age-and gender-matched controls by SNaPShot Multiplex assay. Genotypes GG (OR = 0.09, 95%CI = 0.01-0.83, P = 0.03) and CG (OR = 0.08, 95%CI = 0.01-0.74, P = 0.03) of the 3′-untranslated region (UTR) SNP rs7873784 in TLR4, and genotype AG (OR = 0.67, 95%CI = 0.46-0.97, P = 0.04) and allele G (OR = 0.88, 95%CI = 0.79-0.97, P = 0.01) of the intron SNP rs1898830 in TLR2 were identified as protective against the development of T2DM in southern Chinese people. In contrast, a meta-analysis of rs1927911 and rs1927914 showed no association. Haplotypes AGTT (OR = 0.34, 95%CI = 0.15-0.77, P = 0.01) and AATT (OR = 1.20, 95%CI = 1.01-1.44, P = 0.05) in TLR2 were significantly associated with susceptibility to T2DM. Our results suggest that the effects of non-missense polymorphisms located in the regulatory regions of TLR4 and TLR2 should not be neglected in T2DM association analysis.

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Section: Discussionmentioning

confidence: 99%

Association of TLR2 and TLR4 non-missense single nucleotide polymorphisms with type 2 diabetes risk in a southern Chinese population: a case-control study

Huang¹,

Nie²,

Zhang³

et al. 2015

Genet. Mol. Res.

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“…39 Abnormal TLR1, TLR2 and TLR5 genes may may be responsible for the decline in lung function in CF subjects. 40 CFTR mutation–induced inflammation also enhances upregulation of IL-8 and TLR2, resulting in the initiation or perpetuation of airway inflammation. 40–43 These genetic defects illustrate that the innate immune system is intimately involved in the pathogenesis of CRSsNP.…”

Section: Geneticsmentioning

confidence: 99%

“…40 CFTR mutation–induced inflammation also enhances upregulation of IL-8 and TLR2, resulting in the initiation or perpetuation of airway inflammation. 40–43 These genetic defects illustrate that the innate immune system is intimately involved in the pathogenesis of CRSsNP. Most of these observations about candidate genes have not resulted in any major breakthrough in understanding the pathogenesis of CRS.…”

Section: Geneticsmentioning

confidence: 99%

Chronic Rhinosinusitis without Nasal Polyps

Cho

Kim

Gevaert

2016

The Journal of Allergy and Clinical Immunology: In Practice

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Chronic rhinosinusitis without nasal polyps (CRSsNP) is more prevalent than chronic rhinosinusitis with nasal polyps (CRSwNP). Certain diseases predispose to whereas others are associated with CRSsNP. Predisposing diseases include allergic and non-allergic upper and lower airway diseases, epithelial cell disorders, immunodeficiencies, autoimmune diseases, and some infectious diseases. Additionally, environmental and host factors, examples of which include smoking, a higher incidence of abnormal biofilms, and innate immune defects play a role in the pathogenesis of this disease. CRSsNP is characterized by histologic abnormalities, including basement membrane thickening (fibrosis) and goblet cell hyperplasia. Neutrophils and several chemokines, TGF-β and CXCL-8, play a role in CRSsNP remodeling. However, there are conflicting data about CRSsNP endotypes, e.g., whether it is characterized by neutrophilia or eosinophilia or both. In spite of advancements and the understanding of the pathogenesis of this disease, additional study is necessary to better comprehend its underlying mechanisms, endotypes, and evidence based treatment strategies.

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“…The TLR1 + 743A N G variation was not genotyped in the present study, but is predicted to be in high linkage disequilibrium with the TLR1 −7202A N G variation [3], suggesting an association between the TLR1 −7202G allele and resistance to the development of invasive aspergillosis after allogeneic SCT. The association between the TLR1 −7202G allele and resistance to malaria infection [5] and prevention of lung function deterioration in cystic fibrosis patients [23] may also be compatible with this hypothesis. However, contrasting reports are present in which the TLR1 −7202G allele has been correlated with susceptibility to tuberculosis [24] and sepsis-related mortality [3,4].…”

Section: Discussionmentioning

confidence: 63%

Toll-like receptor 1 variation increases the risk of transplant-related mortality in hematologic malignancies

Uchino

Mizuno

Mizutani

et al. 2016

Transplant Immunology

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Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Cited by 18 publications

References 39 publications

Association of TLR2 and TLR4 non-missense single nucleotide polymorphisms with type 2 diabetes risk in a southern Chinese population: a case-control study

Association of TLR2 and TLR4 non-missense single nucleotide polymorphisms with type 2 diabetes risk in a southern Chinese population: a case-control study

Chronic Rhinosinusitis without Nasal Polyps

Toll-like receptor 1 variation increases the risk of transplant-related mortality in hematologic malignancies

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