Effects of gene polymorphism and serum levels of IL-2 and IL-6 on endometriosis.

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This study found that specific genotypes of IL-2 (rs11575812, rs2069772, rs2069762) and IL-6 (rs1800795) are associated with endometriosis risk and serum levels of these interleukins, which are also correlated.

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This study examined whether single-nucleotide polymorphisms (SNPs) in IL-2 (rs11575812 T>C, rs2069772 A>G, rs2069762 T>G) and IL-6 (rs1800795 C>G), together with serum IL-2 and IL-6 levels, were associated with endometriosis susceptibility. Peripheral blood DNA and serum samples were collected from patients with endometriosis and healthy controls, and the authors reported SNP associations with odds ratios, as well as genotype/haplotype correlations with cytokine concentrations and a correlation between IL-2 and IL-6 serum levels (r=0.63, p<0.001). The results indicated that certain IL-2 genotypes/alleles and IL-6 rs1800795 genotypes were associated with both increased endometriosis risk and altered serum cytokine levels, while also noting significant genotype–serum IL-2 or IL-6 relationships. The paper’s main limitation is that only a genetic association study with serum measurements is presented, without detailed control for potential confounding factors or functional experiments to explain causality. This paper is centrally about endometriosis—specifically the relationship of IL-2/IL-6 gene polymorphisms and serum IL-2/IL-6 levels to endometriosis risk.

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Abstract

OBJECTIVE: EMT is closely related to gene polymorphism and the expression level of immune-related substances in patients. Therefore, the aim of this study was to investigate the relationship between single nucleotide polymorphism (SNP), as well as serum levels of interleukin 2 (IL-2) and interleukin 6 (IL-6) in patients with endometriosis (EMT) and disease susceptibility. PATIENTS AND METHODS: Peripheral blood of EMT patients and healthy people were collected, respectively. Genomic deoxyribonucleic acid (DNA) was extracted and sequenced to obtain gene polymorphisms of IL-2 rs11575812 (T>C), rs2069772 (A>G), rs2069762 (T>G), and IL-6 rs1800795 (C>G). Meanwhile, the serum levels of IL-2 and IL-6 were determined by the relative kits. RESULTS: For IL-2 rs11575812 allele (C>G), the odds ratio (OR) was 0.49, the 95% confidence interval (CI) was 0.37-0.66, and the p-value was 0. For IL-2 rs2069772 allele (C>G), the OR was 0.97, the 95% CI was 0.73-1.27, and the p-value was 0.83. For IL-2 rs2069762 allele (T>G), the OR was 1.73, the 95% CI was 1.31-2.29, and the p-value was 0. For IL-6 rs1800795 allele (C>G), the OR was 1.26, the 95% CI was 0.96-1.66, and the p-value was 0.09. CC genotype (p=0.000) and TT genotype (p=0.040) of IL-2 rs11575812 (T>C), AG genotype (p=0.000) of IL-2 rs2069772 (A>G), and GT genotype (p=0.000) of rs2069762 (T>G) were remarkably associated with the serum level of IL-2 in patients with EMT. Similarly, the CG genotype (p=0.000) of IL-6 rs1800795 (C>G) was significantly correlated with the serum level of IL-6 in patients with EMT. IL-2 haplotype CAG (p=0.005), CAT (p=0.001), CGG (p=0.047), TAG (p=0.000), and TGG (p=0.000) were significantly different from other haplotypes. Furthermore, there was a significant correlation between the serum levels of IL-2 and IL-6 (r=0.63, pC) TT genotype, rs2069772 (A>G) AG genotype and rs2069762 (T>G) GG genotype increases the risk of EMT, which are related to the serum levels of IL-2 and IL-6.
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Objective

EMT is closely related to gene polymorphism and the expression level of immune-related substances in patients. Therefore, the aim of this study was to investigate the relationship between single nucleotide polymorphism (SNP), as well as serum levels of interleukin 2 (IL-2) and interleukin 6 (IL-6) in patients with endometriosis (EMT) and disease susceptibility. PATIENTS AND METHODS: Peripheral blood of EMT patients and healthy people were collected, respectively. Genomic deoxyribonucleic acid (DNA) was extracted and sequenced to obtain gene polymorphisms of IL-2 rs11575812 (T>C), rs2069772 (A>G), rs2069762 (T>G), and IL-6 rs1800795 (C>G). Meanwhile, the serum levels of IL-2 and IL-6 were determined by the relative kits.

Results

For IL-2 rs11575812 allele (C>G), the odds ratio (OR) was 0.49, the 95% confidence interval (CI) was 0.37-0.66, and the p-value was 0. For IL-2 rs2069772 allele (C>G), the OR was 0.97, the 95% CI was 0.73-1.27, and the p-value was 0.83. For IL-2 rs2069762 allele (T>G), the OR was 1.73, the 95% CI was 1.31-2.29, and the p-value was 0. For IL-6 rs1800795 allele (C>G), the OR was 1.26, the 95% CI was 0.96-1.66, and the p-value was 0.09. CC genotype (p=0.000) and TT genotype (p=0.040) of IL-2 rs11575812 (T>C), AG genotype (p=0.000) of IL-2 rs2069772 (A>G), and GT genotype (p=0.000) of rs2069762 (T>G) were remarkably associated with the serum level of IL-2 in patients with EMT. Similarly, the CG genotype (p=0.000) of IL-6 rs1800795 (C>G) was significantly correlated with the serum level of IL-6 in patients with EMT. IL-2 haplotype CAG (p=0.005), CAT (p=0.001), CGG (p=0.047), TAG (p=0.000), and TGG (p=0.000) were significantly different from other haplotypes. Furthermore, there was a significant correlation between the serum levels of IL-2 and IL-6 (r=0.63, p<0.001).

Conclusions

IL-2 rs11575812 (T>C) TT genotype, rs2069772 (A>G) AG genotype and rs2069762 (T>G) GG genotype increases the risk of EMT, which are related to the serum levels of IL-2 and IL-6. Free PDF DownloadThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License To cite this article X.-Q. Wang, M. Hu, J.-M. Chen, W. Sun, M.-B. Zhu Effects of gene polymorphism and serum levels of IL-2 and IL-6 on endometriosis Eur Rev Med Pharmacol Sci Year: 2020 Vol. 24 - N. 9 Pages: 4635-4641 DOI: 10.26355/eurrev_202005_21148 Publication History Published online: 13 May 2020

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Interleukin-2 Interleukin-2 Interleukin-6 Interleukin-6 Biomarkers Biomarkers Case-Control Studies Endometriosis Female Humans Interleukin-2 Interleukin-6 Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide

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