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Single nucleotide polymorphism of transforming growth factor-β1 and interleukin-6 as risk factors for ovarian cancer
Central European Journal of Immunology ( IF 1.5 ) Pub Date : 2020-11-01 , DOI: 10.5114/ceji.2020.101242 Amira Ben Ahmed 1 , Sabrina Zidi 1 , Wassim Almawi 2 , Ezzeddine Ghazouani 3 , Amel Mezlini 4 , Besma Yacoubi Loueslati 1 , Mouna Stayoussef 1
Central European Journal of Immunology ( IF 1.5 ) Pub Date : 2020-11-01 , DOI: 10.5114/ceji.2020.101242 Amira Ben Ahmed 1 , Sabrina Zidi 1 , Wassim Almawi 2 , Ezzeddine Ghazouani 3 , Amel Mezlini 4 , Besma Yacoubi Loueslati 1 , Mouna Stayoussef 1
Affiliation
Introduction
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.
Material, methods and results
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.
Conclusions
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.
中文翻译：
转化生长因子-β1 和白介素-6 的单核苷酸多态性作为卵巢癌的危险因素
介绍
我们研究了突尼斯患者和对照女性中 TGF-β1、IL-6 的常见变异与卵巢癌 (OC) 风险之间的关联。
材料、方法和结果
研究对象包括 71 名 OC 病例和 74 名对照女性。通过实时 PCR 进行 TGF-β1 和 IL-6 SNP 的基因分型。 OC 患者和对照之间三个 TGF-β1 SNP 的次要等位基因频率没有差异。然而，OC 病例和对照之间 TGF-β1 rs1800469 基因型的分布存在显着差异 (p < 0.001)，TGF-β1 rs1800469 杂合 (C/T) 基因型与 OC 呈负相关（OR [95] % CI] = 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 变体的次要等位基因 (G)（p = 0.0275；R [95% CI] = 1.88 [1.03-3.46]）与 OC 的发生呈正相关。事实上，T 等位基因 [G/T + T/T] 的存在降低了 OC 的风险（p = 0.021；OR [95% CI] = 0.38 [0.17-0.88]）。此外，Haploview 分析表明 IL-6 SNP 之间存在高度连锁不平衡 (LD)，八位点单倍型分析发现 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。
结论
我们的结果表明，TGF-β1 rs1800469、IL-6 rs1880242 变体和 IL-6 单倍型 (TGGGCCTA) 对 OC 风险具有保护作用。 IL-6 单倍型（GGAGGGGA 和 GGAGGGTA）增加突尼斯女性的 OC 易感性。
更新日期：2020-12-01
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.
Material, methods and results
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.
Conclusions
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.
中文翻译：
转化生长因子-β1 和白介素-6 的单核苷酸多态性作为卵巢癌的危险因素
介绍
我们研究了突尼斯患者和对照女性中 TGF-β1、IL-6 的常见变异与卵巢癌 (OC) 风险之间的关联。
材料、方法和结果
研究对象包括 71 名 OC 病例和 74 名对照女性。通过实时 PCR 进行 TGF-β1 和 IL-6 SNP 的基因分型。 OC 患者和对照之间三个 TGF-β1 SNP 的次要等位基因频率没有差异。然而，OC 病例和对照之间 TGF-β1 rs1800469 基因型的分布存在显着差异 (p < 0.001)，TGF-β1 rs1800469 杂合 (C/T) 基因型与 OC 呈负相关（OR [95] % CI] = 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 变体的次要等位基因 (G)（p = 0.0275；R [95% CI] = 1.88 [1.03-3.46]）与 OC 的发生呈正相关。事实上，T 等位基因 [G/T + T/T] 的存在降低了 OC 的风险（p = 0.021；OR [95% CI] = 0.38 [0.17-0.88]）。此外，Haploview 分析表明 IL-6 SNP 之间存在高度连锁不平衡 (LD)，八位点单倍型分析发现 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。
结论
我们的结果表明，TGF-β1 rs1800469、IL-6 rs1880242 变体和 IL-6 单倍型 (TGGGCCTA) 对 OC 风险具有保护作用。 IL-6 单倍型（GGAGGGGA 和 GGAGGGTA）增加突尼斯女性的 OC 易感性。
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