Associations of TNFα &lt;b&gt;&lt;i&gt;-308G&gt;A&lt;/i&gt;&lt;/b&gt;, TNFα &lt;b&gt;&lt;i&gt;-238G&gt;A&lt;/i&gt;&lt;/b&gt;,&lt;b&gt; &lt;/b&gt;IL-1α &lt;b&gt;&lt;i&gt;-889C&gt;T&lt;/i&gt;&lt;/b&gt; and IL-10 &lt;b&gt;&lt;i&gt;-1082G&gt;A &lt;/i&gt;&lt;/b&gt;Genetic Polymorphisms with Atopic Diseases: Asthma, Rhinitis and Dermatitis

Babić, Željka; Pipinić, Ivana Sabolić; Varnai, Veda Marija; Kežić, Sanja; Macan, Jelena

doi:10.1159/000445434

Cited by 10 publications

(5 citation statements)

References 69 publications

(95 reference statements)

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“…The disease is the effect of genetic and environmental influences [4] as well as interactions between immunological factors and skin barrier defect [5,6] .…”

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confidence: 99%

Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis

Trzeciak¹,

Sakowicz-Burkiewicz

Wesserling

et al. 2017

Int Arch Allergy Immunol

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Background: It is assumed that beside alterations in the filaggrin gene (FLG), disturbances within genes encoding other cornified envelope proteins are also involved in atopic dermatitis (AD). To identify new potential markers of AD, we studied the polymorphisms of genes encoding repetin (RPTN), cornulin (CRNN), and their expression in the skin of AD patients. Methods: Polymorphisms in CRNN (rs941934), RPTN (rs284544, rs28441202, rs3001978, and rs12117644), and FLG mutations (R2447X, S3247X) were analyzed by TaqMan genotyping assay and by PCR-RFLP in the blood samples of 159 AD patients and 108 healthy subjects. The expression levels of CRNN and RPTN were determined by qRT-PCR in 34 AD skin samples (17 lesional and 17 nonlesional) and in 27 skin biopsies from healthy volunteers. The AD patients were recruited from the clinic of the university hospital between 2012 and 2014. Results:CRNN rs941934 (A allele) was associated with AD (OR 2.095, p = 0.008), a severe course of disease (p = 0.041), elevated IgE levels (p = 0.047), eosinophilia (p = 0.018), and concomitant asthma (p = 0.004). The mRNA level of CRNN was decreased in the AD skin (p = 0.041). In the AD patients without FLG mutations, the CC genotype of RPTN rs3001978 was associated with AD (OR 0.39, p = 0.037), early age at onset (p = 0.033), pruritus (p = 0.021), severity of AD (p = 0.045), and concomitant asthma (p = 0.041). The elevated mRNA levels of RPTN in lesional (p < 0.001) and nonlesional (p = 0.017) AD skin were observed. Conclusions: The single-nucleotide polymorphisms of CRNN (rs941934) and RPTN (rs3001978, rs28441202) may contribute to AD development, but further studies on a larger group of AD patients are needed to verify this assumption.

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“…The disease is the effect of genetic and environmental influences [4] as well as interactions between immunological factors and skin barrier defect [5,6] .…”

mentioning

confidence: 99%

Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis

Trzeciak¹,

Sakowicz-Burkiewicz

Wesserling

et al. 2017

Int Arch Allergy Immunol

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“…In 2013, Chen, et al included seven case-control studies [17–19, 21, 32, 34, 35] to perform a meta-analysis of the association between the IL-10 -1082 A/G polymorphism and the risk of atopic dermatitis [23]. In the present study, we collected the available data from diverse sources and finally added another eight new case-control studies [15, 16, 20, 30, 31, 33, 36, 37] to conduct another updated meta-analysis under the genetic models of allele A vs. G, GG vs. AA, AG vs AA, AG + GG vs AA, GG vs AA+AG and carrier A vs. G. Subgroup analyses stratified by ethnicity, country and HWE were also conducted. Our data failed to support the strong genetic link between the IL-10 -1082 A/G SNP and the risk of atopic dermatitis, which is in line with the outcomes of the above meta-analyses.…”

Section: Discussionmentioning

confidence: 99%

“…Third, the genotypic distribution of control groups in some studies was not in line with the Hardy-Weinberg equilibrium. Fourth, of the eligible case-control studies, only allelic frequency data were extracted in one study [21], and the combined genotypic frequency (AG + GG) of the IL-10 -1082 A/G polymorphism was obtained in another study [31]. Fifth, even though we obtained haplotypic data for the − 1082 A/G, − 819 T/C, − 592 A/C polymorphisms within the IL-10 genes, including “ACC”, “ATA”, and “GCC”, very limited data resulted in the failure of related meta-analysis.…”

Section: Discussionmentioning

confidence: 99%

Genetic relationship between IL-10 gene polymorphisms and the risk of clinical atopic dermatitis

Kong

2019

BMC Med Genet

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Background We retrieved different reports containing different genetic effects of − 1082 A/G, − 819 T/C, and − 592 A/C polymorphisms within the IL-10 (interleukin-10) gene on the susceptibility to clinical atopic dermatitis. Methods Herein, we conducted a meta-analysis to comprehensively assess such a genetic relationship after collecting the available published evidence. STATA 12.0 software was used for the statistical analysis under the allelic, homozygotic, heterozygotic, dominant, recessive and carrier genetic models. Results By retrieving and screening database literature, a total of 16 eligible case-control studies were finally selected. For the IL-10 -1082 A/G polymorphism, we did not detect a significant difference between atopic dermatitis cases and population-based controls in the overall meta-analysis under the genetic models of allele G vs. A ( P = 0.540), GG vs. AA ( P = 0.853), AG vs AA ( P = 0.265), AG + GG vs AA ( P = 0.221), GG vs AA+AG ( P = 0.540) and carrier G vs. A ( P = 0.643). Moreover, a statistically non-significant association was observed in the most subgroup meta-analyses by the factors of ethnicity, country and Hardy-Weinberg equilibrium. Likewise, the negative results were detected for the synthetic analysis of IL-10 -819 T/C and − 592 C/A polymorphisms. Conclusion The current evidence does not support a strong genetic relationship between IL-10 -1082 A/G, − 819 T/C and − 592 A/C polymorphisms and the susceptibility to atopic dermatitis. Electronic supplementary material The online version of this article (10.1186/s12881-019-0817-8) contains supplementary material, which is available to authorized users.

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“…35 However, GA genotype of TNF-α (308 G/A) is significantly decreased and the frequency of GG genotype is increased in the patients showing a negative association of this polymorphism with AD and atopic asthma in Iranian 23 and Croatian patients. 36 On the contrary, some studies have indicated no association of TNF-α (308 G/A) polymorphism with AD susceptibility in English, 37 German, 20 Americans. 14 Chinese, 38 and Macedonians subjects.…”

Section: Discussionmentioning

confidence: 99%

Cytokine Gene Polymorphisms in Saudi Patients With Atopic Dermatitis: A Case-Control Study

et al. 2018

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The cause of atopic dermatitis (AD) is multifactorial and a number of genes including cytokines have been involved. We genotyped 315 subjects for polymorphisms in TNF-α and TNF-β and IL-10 genes. Patients had significantly higher frequency of GA genotype of TNF-α (−308 G/A) than healthy controls. Patients with AD and controls had similar distribution of A and G alleles. Genotype AA was found in 7.11% of controls while completely absent in cases. The frequencies of genotypes GG and AA of TNF-β (+252 A/G) polymorphism were higher whereas the frequency of genotype GA was significantly lower in patients than the controls. The frequencies of genotypes GG and AA of IL-10 (1082 G/A) polymorphism were significantly increased whereas genotype GA was decreased in patients than the controls. It is concluded that TNF-α (−308 G/A), TNF-β (+252 A/G), and IL-10 (−1082 G/A) polymorphisms are linked with the susceptibility of AD in Saudis and can be a risk factor.

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Associations of TNFα <b><i>-308G>A</i></b>, TNFα <b><i>-238G>A</i></b>,<b> </b>IL-1α <b><i>-889C>T</i></b> and IL-10 <b><i>-1082G>A </i></b>Genetic Polymorphisms with Atopic Diseases: Asthma, Rhinitis and Dermatitis

Cited by 10 publications

References 69 publications

Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis

Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis

Genetic relationship between IL-10 gene polymorphisms and the risk of clinical atopic dermatitis

Cytokine Gene Polymorphisms in Saudi Patients With Atopic Dermatitis: A Case-Control Study

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