Single nucleotide polymorphisms of toll‐like receptor‐4 protect against acne conglobata

Grech, Ioanna; Giatrakou, Sophia; Damoraki, Georgia; Pistiki, Aikaterini; Kaldrimidis, Philippos; Giamarellos‐Bourboulis, Evangelos J.; Stavrianeas, Nikolaos

doi:10.1111/j.1468-3083.2011.04338.x

Cited by 11 publications

(15 citation statements)

References 16 publications

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“…From the total of 191 patients enrolled in the already described cohort [6], assays were run successfully in 185 to be analysed in the present study. The demographic characteristics of the study population are shown in table 2.…”

Section: Resultsmentioning

confidence: 99%

“…This case-control study was conducted throughout the period from September 2009 until January 2011 [6]. The study protocol was reviewed and approved by the Ethics Committee of Attikon University General Hospital.…”

Section: Methodsmentioning

confidence: 99%

“…Single-nucleotide polymorphisms (SNPs) of genes encoding for cytokines and receptors implicated in the innate immune response seem also to confer some predisposition to acne as it has been described for carriers of the minor frequency T allele of IL1A at the +4845 position [5]. Furthermore, it has recently been reported that patients with acne that are carriers of SNPs of TLR4 are protected from the development of the severest form of the disease, namely acne conglobata [6]. …”

Section: Introductionmentioning

confidence: 99%

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Impact of TNF Haplotypes in the Physical Course of Acne Vulgaris

et al. 2013

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Background: The role of single-nucleotide polymorphisms (SNPs) of the TNF gene in acne vulgaris remains controversial. Methods: Genomic DNA was isolated from 185 patients with acne vulgaris and 165 healthy controls. SNPs at positions -376, -308 and -238 of the promoter region of TNF were defined. Results: The frequency of the GAG haplotype was greater among patients (16.8%) than among controls with borderline significance (9.7%, p = 0.059). Male carriers of haplotypes other than GGG presented acne vulgaris at a later age than carriers of the GGG haplotype. No effect of the GAG haplotype on the frequency of acne conglobata was found among women with polycystic ovary syndrome. Conclusions: Carriage of the GAG haplotype of TNF is linked with borderline susceptibility to acne vulgaris. The GGG haplotype is related with earlier disease onset in male patients.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Impact of TNF Haplotypes in the Physical Course of Acne Vulgaris

et al. 2013

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“…However, the individual genes responsible for this high heritability remain unclear. Although candidate gene-based studies have identified a few genetic variants associated with acne in tumor necrosis factor alpha ( TNFα ) (Al-Shobaili et al 2012; Baz et al 2008; Szabo et al 2011), tumor necrosis factor receptor 2(TNFR2) (Tian et al 2010), interleukin-1A ( IL1A ) (Szabo et al 2010), cytochrome P450, family 17 (CYP17) (He et al 2006), toll-like receptor 2(TLR2) (Tian et al 2010) and toll-like receptor 4 ( TLR4 ) (Grech et al 2012), no genome-wide association studies (GWASs) have been reported on this common skin condition. To identify novel genetic variants for acne, we conducted a genome-wide association study on severe teenage acne within a U.S cohort of young females, the Nurses’ Health Study II (NHSII).…”

Section: Introductionmentioning

confidence: 99%

A genome-wide association study of severe teenage acne in European Americans

et al. 2013

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Despite the family aggregation of severe teenage acne, the genetic basis of this common skin condition remains unclear. We conducted a genome-wide association study (GWAS) on severe teenage acne in 928 European Americans. The SNP rs4133274 on chromosome 8q24 (72kb upstream of MYC) revealed the most significant association with severe teenage acne (p-value = 1.7×10−6). The variant allele of this SNP (G allele) was associated with an increased risk of severe teenage acne with odds ratio of 2.44 (95% confidence interval = 1.75–3.41). Upon further replication, our findings suggest new genetic basis of acne and may explain the association between acne and cancer risk observed in the epidemiological studies.

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“…Pobudzenie receptora TLR2 przez P. acnes na keratynocytach warstwy podstawnej, lejka i gruczołów łojowych powoduje uwolnienie IL1α, co prowadzi do nadmiernego rogowacenia ujść mieszków włosowych 7 dni po aktywacji [79]. Wykazano, że polimorfizm pojedynczego nukleotydu (SNP) genu receptora TLR4 chroni przed rozwojem trądziku skupionego [80]. Stosowane w leczeniu trądziku zwykłego miejscowe retinoidy zmniejszają stan zapalny poprzez zmniejszenie ekspresji receptorów TLR2 na monocytach, natomiast sole cynku hamują ekspresję TLR2 na keratynocytach [81,82].…”

Section: Inne Choroby Skóryunclassified

The role of Toll-like receptors in skin diseases

Bacharewicz¹,

Reduta²,

Flisiak³

2014

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StreSzczenieUkład odpornościowy wrodzony ma zdolność rozpoznawania drobnoustrojów za pośrednictwem obecnych na powierzchni komórek przez błonowych glikoprotein określanych jako receptory Tolllike (ang. Toll-like receptors -TLR). Receptory te, obecne na komórkach układu immunologicznego: makrofagach, komórkach dendrytycznych, mastocytach i określonych subpopulacjach limfocytów, pełnią ważną funkcję obronną w zakażeniach bakteryjnych, wirusowych i grzybiczych. Połą-czenie TLR z fragmentem drobnoustroju określanym jako wzorzec molekularny związany z patogenem (ang. pathogen-associated molecular pattern -PAMP) inicjuje wewnątrzkomórkowe mechanizmy prowadzące do wytwarzania cytokin prozapalnych. W zależności od rozpoznawanych ligandów TLR są klasyfikowane na podrodziny. Dotychczas opisano 13 różnych TLR u myszy i 11 u ludzi, które podzielono na TLR zewnątrzkomórkowe: TLR 1, 2, 4, 5, 6, 10, 11 oraz wewnątrzkomórko-we, zlokalizowane w endosomach: TLR 3, 7, 8, 9. Badania ostatnich lat wskazują również na ich rolę w rozwoju szeregu chorób, w tym wielu dermatoz. Występowanie TLR stwierdzono na powierzchni komórek naskórka i skóry właściwej, m.in. na keratynocytach, komórkach Langerhansa, fibroblastach, komórkach śródbłonka naczyń, a nawet na melanocytach i adipocytach. W pracy przedstawiono budowę i funkcję TLR oraz ich udział w patogenezie wybranych chorób skóry -infekcyjnych: bakteryjnych, wirusowych i grzybiczych, a także autoimmunologicznych, alergicznych oraz nowotworowych. Dokładne poznanie roli tych receptorów w rozwoju poszczególnych chorób stwarza możliwość ich wykorzystania w leczeniu schorzeń dermatologicznych. AbStrActThe innate immune system has the ability to recognize pathogens through Tolllike receptors (TLRs), which are transmembrane glycoproteins on the cell surface. These receptors present on the surface of immunological cells -macrophages, dendritic cells, mast cells and some populations of lymphocytes -play an important role in the defense against bacterial, viral and fungal infections. The connection of a Tolllike receptor with the microbial cell component known as pathogen associated molecular pattern (PAMP) induces intracellular mechanisms leading to the synthesis of proinflammatory cytokines. Depending on the kind of the recognized ligand, TLRs are classified into subfamilies. So far, 13 TLRs have been described in mice and 11 in humans. These receptors may be expressed extracellularly (TLRs 1, 2, 4, 5, 6, 10, 11) or intracellularly, located in endosomes (TLRs 3,7,8,9). Recent studies rola receptorów toll-like w chorobach skóry the role of toll-like receptors in skin diseases Joanna bacharewicz, teresa reduta, iwona Flisiak

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Single nucleotide polymorphisms of toll‐like receptor‐4 protect against acne conglobata

Abstract: Carriage of gene SNPs is protective against the development of acne conglobata even in the presence of P. acnes.

Cited by 11 publications

References 16 publications

Impact of TNF Haplotypes in the Physical Course of Acne Vulgaris

Impact of TNF Haplotypes in the Physical Course of Acne Vulgaris

A genome-wide association study of severe teenage acne in European Americans

The role of Toll-like receptors in skin diseases

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