TLR2 and TLR4 Polymorphisms Are Not Associated with Acne Vulgaris

Koreck, Andrea; Kis, Kornélia; Szegedi, Krisztiná; Păunescu, V; Cioaca, R.; Olariu, Tudor Rareș; Negru, Șerban; Bata-Csorgo, Zsuzsanna; Kemény, Lajos; Széll, Márta

doi:10.1159/000095057

Cited by 15 publications

(8 citation statements)

References 16 publications

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“…In the case of the TLR2 gene, an analysis of the Arg753Gln polymorphism by direct sequencing has revealed that the rare A allele is missing from a Central Eastern European study population [45]. The available literature data on the role of this single nucleotide polymorphism (SNP) are controversial and similar investigations performed on other ethnic group by different investigators led to completely different conclusions.…”

Section: Toll-like Receptor Gene Polymorphisms and Acnementioning

confidence: 99%

“…In the case of TLR4, the Asp299Gly and Thr399Ile changes located in the ligand recognition part of the receptor have been investigated with regard to the genetic predisposition to acne vulgaris by direct sequencing [45]. The results suggested that the SNPs occur simultaneously with relatively low frequency in the previously mentioned Central Eastern European study population, composing a haplotype, and no association was demonstrated between the carriers of the polymorphisms and acne.…”

Section: Toll-like Receptor Gene Polymorphisms and Acnementioning

confidence: 99%

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Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Szabó

Kemény

2011

Human Immunology

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A B S T R A C TAcne is one of the most common dermatologic diseases in the developed regions of the world, affecting a large percentage of the population. Despite the great improvement in the number and quality of studies of the molecular etiology of this disease in the past 3 decades, the detailed molecular pathogenesis and the cause of the large individual variations in severity of skin symptoms remain unknown. The roles of genetic inheritance and special genetic susceptibility and protective factors have been suggested for over 100 years, but their identification and determination started only in the 1990s. To date, only a small number of genetic polymorphisms affecting the expression and/or function of a handful of genes have been investigated. This review surveys the major findings of the classic and molecular genetic studies that have been conducted in this field, draws conclusions, and indicates how the available data help our current understanding of the pathogenesis of this common skin disease. ᭧

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Section: Toll-like Receptor Gene Polymorphisms and Acnementioning

confidence: 99%

Section: Toll-like Receptor Gene Polymorphisms and Acnementioning

confidence: 99%

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Szabó

Kemény

2011

Human Immunology

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“…Research in the Chinese population has further demonstrated that familial factors are involved in the etiopathogenesis of acne vulgaris in the Chinese population [1,24]. In previous studies, the candidate gene selection focused on inﬂammatory reactions-related genes [26,27,28] and androgen-related genes [7,12,13]. …”

Section: Discussionmentioning

confidence: 99%

Association of HSD17B3 and HSD3B1 Polymorphisms with Acne Vulgaris in Southwestern Han Chinese

Yang

Wu²,

Cheng³

et al. 2013

Dermatology

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Acne vulgaris is a very common skin disorder. Previous studies have indicated that genetic background factors play key roles in the onset of acne. Our previous investigation implicated several genes in the androgen metabolism pathway with acne vulgaris in the Han Chinese population. Thus, we further investigated genes and genetic variants that play important roles in this pathway for their relationship with the pathology of acne. In this study, a total of 610 subjects, including 403 acne patients and 207 healthy controls, were genotyped for 15 single-nucleotide polymorphisms in HSD3B1 and HSD17B3 genes. This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. The GG genotype was associated with an increased risk of acne vulgaris (p < 0.05) and G allele carriers were associated with an increased risk of acne vulgaris (p < 0.05). In addition, the haplotype AAT in HSD3B1 significantly increased the risk of acne vulgaris in the case-control study (p < 0.05). Furthermore, for another gene in this pathway, HSD17B3, the haplotype H8 was significantly associated with an increased risk of acne vulgaris. Based on these analyses, our study indicates that the cutaneous androgen metabolism-regulated genes HSD3B1 and HSD17B3 increase the susceptibility to acne vulgaris in Han Chinese from Southwest China.

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“… 41 This finding probably indicates that the mechanism involved in the pathogenesis of acne is not controlled in particular by the IL-4 cytokine, but rather by other interactive genetic susceptibility factors. 8 , 10 , 12 , 42 , 43 …”

Section: Discussionmentioning

confidence: 99%

Association of interleukin 4 (-590 T/C) and interleukin 4 receptor (Q551R A/G) gene polymorphisms with acne vulgaris

Robaee

Alzolibani

Shobaili

et al. 2012

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVES Acne vulgaris is a common skin disorder. The complete etiology of this disease remains to be identified; however, it seems that aberrant expression of cytokine genes might be a contributing factor. This study aimed to investigate the association of genetic polymorphisms related to interleukin 4 (IL-4) promotor and receptor (IL-4R) genes as inflammatory modulators with acne vulgaris. DESIGN AND SETTING A case-control study 95 acne patients recruited from outpatient dermatology clinics affiliated with Qassim University, Qassim, Saudi Arabia. PATIENTS AND METHODS Acne patient data were compared with 87 normal healthy unrelated controls from the same locality. The genomic DNA was extracted and processed using the real-time polymerase chain reaction amplification for characterization of polymorphisms related to IL-4 (-590 T/C) and IL-4R (Q551R A/G) genes. RESULTS Acne patients compared to controls showed no significant difference in the frequencies of IL-4 (-590 T/C) polymorphic genotypes ( P =.8), yet had a highly significant difference in IL-4R (Q551R A/G) genotypes ( P <.001). The frequencies of the mutant genotype IL-4R GG as well as the allele IL-4R G were significantly higher in cases of acne than in controls. Furthermore, acne cases showed higher frequencies of combined genotypes IL-4R_GG with IL-4_CC, CT, or TT. However, no significant difference was noted on comparing subgroups related to disease severity or response to treatment ( P >.05). CONCLUSIONS This study provides evidence for a significant association of IL-4R (Q551R A/G) genetic polymorphisms with the susceptibility rather than the severity of acne vulgaris.

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TLR2 and TLR4 Polymorphisms Are Not Associated with Acne Vulgaris

Cited by 15 publications

References 16 publications

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

Association of <b><i>HSD17B3</i></b> and <b><i>HSD3B1</i></b> Polymorphisms with Acne Vulgaris in Southwestern Han Chinese

Association of interleukin 4 (-590 T/C) and interleukin 4 receptor (Q551R A/G) gene polymorphisms with acne vulgaris

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