Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, LR12ES07, Tunisia.
Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.
Mol Biol Rep. 2023 Oct;50(10):8089-8096. doi: 10.1007/s11033-023-08706-9. Epub 2023 Aug 4.
Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder that affects women in their child-bearing age, and is associated with insulin resistance and type 2 diabetes. The etiology of PCOS involves multiple factors including genetic, metabolic and immunological factors. Interleukin - 10 (IL-10), as an anti-inflammatory cytokine, plays a critical role in this regard. We investigated the potential role of IL-10 gene variants in the development of PCOS in Tunisian population.
115 cases and 120 controls were recruited in the current case control study. Rotterdam consensus criteria were used to diagnose PCOS patients. Genotyping for IL-10, rs1800896, rs1800871 and rs1800872 variants, was performed by real time PCR. The results obtained showed that the minor allele frequency of rs1800896, rs1800871and rs1800872 were comparable between PCOS cases and control subjects (P = 0.30, P = 0.71, and P = 0.57 respectively). The distribution analysis revealed an unsignificant association of the three tested variants, in all genetic models. Haplotype analysis identified one haplotype CCA with a protective role in PCOS development (P = 0.05; OR (95% CI) = 0.56 (0.32 - 0.99)). This association did not persist after adjustment for multiples covariates (Pc = 0.154).
Our study is the first to show how ethnicity influences the association of IL-10 gene variants with PCOS susceptibility. No allelic nor genetic association were observed between the tested variants and PCOS in Tunisian women, however, a particular IL-10 haplotype with a protective effect for PCOS was identified.
多囊卵巢综合征(PCOS)是一种常见的内分泌疾病,影响育龄妇女,与胰岛素抵抗和 2 型糖尿病有关。PCOS 的病因涉及多种因素,包括遗传、代谢和免疫因素。白细胞介素-10(IL-10)作为一种抗炎细胞因子,在这方面起着关键作用。我们研究了 IL-10 基因变异在突尼斯人群中 PCOS 发病机制中的潜在作用。
本病例对照研究纳入 115 例病例和 120 例对照。采用 Rotterdam 共识标准诊断 PCOS 患者。采用实时 PCR 法对 IL-10、rs1800896、rs1800871 和 rs1800872 变异进行基因分型。结果显示,rs1800896、rs1800871 和 rs1800872 的次要等位基因频率在 PCOS 病例和对照组之间无差异(P=0.30、P=0.71 和 P=0.57)。所有遗传模型的分布分析均未发现三个测试变异与 PCOS 发病之间存在显著关联。单体型分析发现一个单体型 CCA 对 PCOS 发病具有保护作用(P=0.05;OR(95%CI)=0.56(0.32-0.99))。这种关联在调整多重协变量后并不持续(Pc=0.154)。
本研究首次表明,种族如何影响 IL-10 基因变异与 PCOS 易感性之间的关联。在突尼斯女性中,未观察到测试变异与 PCOS 之间存在等位基因或遗传关联,但鉴定出一种具有保护作用的特定 IL-10 单体型。