Ahmed Amira Ben, Zidi Sabrina, Almawi Wassim, Ghazouani Ezzeddine, Mezlini Amel, Loueslati Besma Yacoubi, Stayoussef Mouna
Department of Biology, Faculty of Sciences of Tunis, Laboratory of Mycology, Pathologies and Biomarkers: LR16ES05, El Manar University, Tunis, Tunisia.
College of Health Sciences, Abu Dhabi University, United Arab Emirates.
Cent Eur J Immunol. 2020;45(3):267-275. doi: 10.5114/ceji.2020.101242. Epub 2020 Nov 1.
We investigated the association between common variants in TGF-1, IL-6 and the risk of ovarian cancer (OC) in Tunisian patients and control women.
Study subjects comprised 71 OC cases and 74 control women. Genotyping of TGF-1 and IL-6 SNPs was done by real-time PCR. No differences were noted in the minor allele frequencies of the three TGF-1 SNPs between OC patients and controls. However, marked differences in the distribution of TGF-1 rs1800469 genotypes were seen between OC cases and controls (p < 0.001), with TGF-1 rs1800469 heterozygous (C/T) genotype being negatively associated with OC (OR [95% CI] = 0.24 [0.15-0.58]). The allelic and genotypic distributions at IL-6 polymorphisms showed a positive association between minor allele (G) at IL-6 rs1880242 variant (p = 0.0275; R [95% CI] = 1.88 [1.03-3.46]) and the occurrence of OC. In fact, the presence of T allele [G/T + T/T] decrease the risk of OC (p = 0.021; OR [95% CI] = 0.38 [0.17-0.88]). In addition, the Haploview analysis demonstrated high linkage disequilibrium (LD) between IL-6 SNPs and eight-locus haplotype analysis identified that GGAGGGGA and GGAGGGTA haplotypes are positively associated with OC risk. A negative association was shown between IL-6 haplotype (TGGGCCTA) and OC occurrence.
Our results suggest that TGF-1 rs1800469, IL-6 rs1880242 variants and IL-6 haplotype (TGGGCCTA) have protective roles of OC risk. IL-6 haplotypes (GGAGGGGA and GGAGGGTA) increase OC susceptibility among Tunisian women.
我们研究了突尼斯患者和对照女性中转化生长因子-β1（TGF-β1）、白细胞介素-6（IL-6）的常见变异与卵巢癌（OC）风险之间的关联。
研究对象包括71例OC患者和74例对照女性。通过实时聚合酶链反应（PCR）对TGF-β1和IL-6的单核苷酸多态性（SNP）进行基因分型。在OC患者和对照之间，三种TGF-β1 SNP的次要等位基因频率未发现差异。然而，在OC病例和对照之间，TGF-β1 rs1800469基因型的分布存在显著差异（p < 0.001），TGF-β1 rs1800469杂合子（C/T）基因型与OC呈负相关（比值比[95%可信区间] = 0.24 [0.15 - 0.58]）。IL-6多态性的等位基因和基因型分布显示，IL-6 rs1880242变异的次要等位基因（G）与OC的发生呈正相关（p = 0.0275；相对危险度[95%可信区间] = 1.88 [1.03 - 3.46]）。事实上，T等位基因[G/T + T/T]的存在降低了OC风险（p = 0.021；比值比[95%可信区间] = 0.38 [0.17 - 0.88]）。此外，Haploview分析显示IL-6 SNP之间存在高度连锁不平衡（LD），八位单倍型分析确定GGAGGGGA和GGAGGGTA单倍型与OC风险呈正相关。IL-6单倍型（TGGGCCTA）与OC发生呈负相关。
我们的结果表明，TGF-β1 rs1800469、IL-6 rs1880242变异和IL-6单倍型（TGGGCCTA）对OC风险具有保护作用。IL-6单倍型（GGAGGGGA和GGAGGGTA）增加了突尼斯女性患OC的易感性。
