TLR2 and TLR4 polymorphisms in familial Mediterranean fever

Speletas, Matthaios; Kalala, Fani; Mitroulis, Ioannis; Papadopoulos, Vassilios; Merentiti, Vassiliki; Germenis, Anastasios E.; Ritis, Konstantinos

doi:10.1016/j.humimm.2009.05.004

Cited by 12 publications

(17 citation statements)

References 26 publications

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“…These selective forces acted vigorously in the area of Central Greece, site of origin of our study group, where malaria rates were high until the 1960s, a fact also reflected in the increased frequency of haemoglobinopathies, in our region compared to others, in Greece (23,24). Thus, as previously shown and confirmed in our study, the percentage of the population carrying the mutant alleles is higher (z13.5%) (25)(26)(27) in comparison with other European -except for Dutch, Romanian (14%) and Basque (18%) -or other native Greek populations (6%) (8).…”

Section: Discussionsupporting

confidence: 81%

TLR4 gene polymorphisms: evidence for protection against type 2 diabetes but not for diabetes-associated ischaemic heart disease

Manolakis

Kapsoritakis

Tiaka³

et al. 2011

European Journal of Endocrinology

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Objective: Several factors either predisposing or protecting from the onset of diabetes mellitus type 2 (DM2) have been proposed. Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Ile) have recently been identified either as candidate protector genes against DM2 and associated neuropathy or risk alleles for the manifestation of diabetic retinopathy. The impact of these alleles on the risk for ischaemic heart disease (IHD) is controversial while their role in diabetesassociated IHD has never been studied. Design and methods: In order to clarify the potential impact of TLR4 polymorphisms on the predisposition for DM2 as well as on diabetes-related IHD vulnerability, the distribution of the mutant TLR4 Asp299Gly and Thr399Ile alleles in 286 DM2 patients and 413 non-DM2 controls with or without IHD, was examined. Results: Mutant alleles were predominantly detected in 79/413 non-diabetic individuals versus 15/286 DM2 patients (P!0.0001). The rates of positivity for mutant alleles were similar among diabetic patients with or without IHD (7/142 vs 8/144, PO0.1), whereas they proved different among non-diabetic individuals with or without IHD (39/145 vs 40/268, PZ0.004). Following multivariate analysis, the difference between diabetic and non-diabetic subjects, with regard to TLR4 mutations alone, remained significant (PZ0.04). Conclusions: Mutant TLR4 alleles confer protection against DM2. However, their presence does not seem to play any role, protective or aggravating, in the manifestation of IHD either in diabetic or in non-diabetic individuals.

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Section: Discussionsupporting

confidence: 81%

TLR4 gene polymorphisms: evidence for protection against type 2 diabetes but not for diabetes-associated ischaemic heart disease

Manolakis

Kapsoritakis

Tiaka³

et al. 2011

European Journal of Endocrinology

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“…The detection of the TLR2-R753Q polymorphism was also performed by PCR-RFLP analysis (27). The protocol was designed on the basis of the fact that the polymorphism results in the creation of a DNA sequence recognized by the restriction enzyme SfcI (New England BioLabs).…”

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confidence: 99%

Toll-Like Receptor 4 Gene ( TLR4 ), but Not TLR2 , Polymorphisms Modify the Risk of Tonsillar Disease Due to Streptococcus pyogenes and Haemophilus influenzae

Liadaki

Petinaki

Skoulakis

et al. 2011

Clin Vaccine Immunol

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Tonsillar disease (recurrent tonsillitis and/or tonsillar hypertrophy) is one of the most common human disorders, with Streptococcus pyogenes (group A beta-hemolytic streptococcus [GAS]) and Haemophilus influenzae representing the most common pathogens. Until now, no study has investigated why some individuals are more susceptible to tonsillar infections caused by specific bacteria than others. The aim of this study was to uncover possible associations between common Toll-like receptor gene (TLR) polymorphisms and tonsillar disease. The TLR2-R753Q, TLR4-D299G, and TLR4-T399I polymorphisms were determined in a cohort of 327 patients subjected to tonsillectomy due to recurrent tonsillitis (n ‫؍‬ 245) and tonsillar hypertrophy (n ‫؍‬ 82) and 245 healthy bone marrow donors. Associations of the aforementioned polymorphisms with the isolated bacterial strains after tonsillectomy were also investigated. Interestingly, carriers of the TLR4 polymorphisms displayed an approximately 3-fold increased risk for GAS infections (for TLR4-D299G, odds ratio [OR] ‫؍‬ 2.81, 95% confidence interval [CI] ‫؍‬ 1.16 to 6.79, P ‫؍‬ 0.038; for TLR4-T399I, OR ‫؍‬ 3.01, 95% CI ‫؍‬ 1.29 to 7.02, P ‫؍‬ 0.023), and this association was more profound in patients with recurrent tonsillitis. On the contrary, the presence of the TLR4-T399I polymorphism was associated with a 2-fold decreased risk of Haemophilus influenzae carriage (OR ‫؍‬ 0.38, 95% CI ‫؍‬ 0.15 to 0.96, P ‫؍‬ 0.038). In the end, no significant differences were observed, considering the genotype and allele frequencies of the above-mentioned polymorphisms, between patients and controls. Our findings indicate that, regarding tonsillar infections, TLR4 polymorphisms predispose individuals to GAS infection, while they are protective against Haemophilus influenzae infection. This result further elucidates the role that host immune genetic variations might play in the susceptibility to common infections and tonsillar disease.

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“…BioLabs, Ipswich, MA, USA) (19). The PCR conditions were 2 min at 94 °C, followed by 38 cycles at 94 °C for 30 s, 64 °C for 30 s, and 72 °C for 45 s with 5 min at 72 °C after the last cycle.…”

Section: Tlr4-t399imentioning

confidence: 99%

The common genetic variants of toll-like receptor and susceptibilityto adenoid hypertrophy: a hospital-based cohort study

Babademez¹,

Özdaş²,

Özdaş³

2016

Turk J Med Sci

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Background/aim: Adenoid hypertrophy (AH) is one of the most frequent pediatric disorders. The aim of this study was to investigate the effects of TLR2-R753Q, TLR4-T399I, and TLR4-D299G polymorphisms in children with AH. Materials and methods:The variants of the TLR gene were determined by restriction fragment length polymorphism (PCR-RFLP) analysis in 60 patients with AH and in 50 healthy children. Data were analyzed with SNPStats and multifactor dimensionality reduction (MDR) software. Results:We found that the presence of the G allele, the AG+GG and AG genotypes at TLR4-D299G, and the GGT haplotype were associated with AH in children (P = 0.013, P = 0.02, P = 0.038, and P = 0.001, respectively). On the contrary, no association was found between TLR2-R753Q and predisposition to AH. The CT genotype at TLR4-T399I showed a sex-specific association with AH, occurring only in boys with allergies (P = 0.0048). In addition, MDR analysis indicated a strong synergy between TLR gene markers contributing to AH. Allergic children with the diplotypes that included minor alleles of TLR4-D299G or TLR4-T399I had about a 4-fold increased risk for AH. Conclusion:Common genetic variants of the gene encoding the TLR4 protein may have differential effects on AH and the presence of sex-specific allergy.

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TLR2 and TLR4 polymorphisms in familial Mediterranean fever

Cited by 12 publications

References 26 publications

TLR4 gene polymorphisms: evidence for protection against type 2 diabetes but not for diabetes-associated ischaemic heart disease

TLR4 gene polymorphisms: evidence for protection against type 2 diabetes but not for diabetes-associated ischaemic heart disease

Toll-Like Receptor 4 Gene ( TLR4 ), but Not TLR2 , Polymorphisms Modify the Risk of Tonsillar Disease Due to Streptococcus pyogenes and Haemophilus influenzae

The common genetic variants of toll-like receptor and susceptibilityto adenoid hypertrophy: a hospital-based cohort study

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