白细胞介素 6-174 G/C(rs1800795)和白细胞介素 1A-889 C/T(rs1800587)细胞因子变体与伊朗女性多囊卵巢综合征的关联：一项病例对照研究。
Association between IL-6 -174 G/C (rs1800795) and IL-1A -889 C/T (rs1800587) cytokine variants with polycystic ovary syndrome in Iranian women: A case-control study.
机构信息
Department of Convergent Science and Technology, Islamic Azad University Science and Research Branch, Tehran, Iran.
Men's Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Medical Genetics Department, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Gene. 2025 Jan 15;933:148906. doi: 10.1016/j.gene.2024.148906. Epub 2024 Sep 1.
BACKGROUND AND AIM
Infertility in women has various causes, one of which is ovulation disorders. Polycystic ovary syndrome (PCOS) affecting ovulation is a complex idiopathic disease in which genetic polymorphisms may be involved. This study aimed to investigate the relationship between IL-6 -174 G/C and IL-1A -889 G/A cytokine polymorphisms with polycystic ovary syndrome in a population of Iranian women.
MATERIALS AND METHODS
In this case-control pilot study, 120 PCOS patients (60 infertile, LPI, and 60 women with recurrent pregnancy abortion, LPA) and 60 controls, CTRLs) participated. After genomic DNA extraction from peripheral blood, we investigated for the polymorphisms rs1800795 of the IL-6 -174 and rs1800587 of the IL-1A-889 using specific primers and PCR-RFLP followed by NlaIII enzyme digestion and PCR-ARMS techniques.
RESULTS
There was a significant difference in the studied groups in terms of clinical characteristics (p-value < 0.05) except for the levels of HDL and LDL. Regarding demographic and clinical characteristics of patients, a significant correlation was observed between C/G and G/G genotypes of rs1800795 and FBS level (p value = 0.002). Also, rs1800587 showed a substantial relationship between CC and CT genotypes with the level of LH in LPI and the level of FBS in the LPAs (p value = 0.04). There was no significant difference between the frequencies of rs1800795 and frequencies of rs1800587 genotypes in the three studied groups (p value > 0.05).The studied variants were in Hardy-Weinberg equilibrium.
CONCLUSION
The present work showed that rs1800795 and rs1800587 were not directly associated with PCOS in Iranian patients while the SNPs showed an indirect relationship with some factors affecting the disease. However, using genome-wide association analysis is a proper suggestion to obtain more reliable information about the disease's genetic view. To our knowledge, this is the first report that implicates the role of the examined SNPs in an Iranian PCOS population.
背景与目的
女性不孕的原因多种多样，其中之一是排卵障碍。多囊卵巢综合征（PCOS）是一种影响排卵的复杂特发性疾病，其中可能涉及遗传多态性。本研究旨在探讨伊朗女性人群中白细胞介素-6（IL-6）-174 G/C 和白细胞介素-1A（IL-1A）-889 G/A 细胞因子多态性与多囊卵巢综合征之间的关系。
材料与方法
在这项病例对照初步研究中，共有 120 名 PCOS 患者（60 名不孕、LPI 和 60 名复发性流产、LPA）和 60 名对照（CTRLs）参与了研究。从外周血中提取基因组 DNA 后，我们使用特异性引物和 PCR-RFLP 技术检测了 IL-6-174 的 rs1800795 和 IL-1A-889 的 rs1800587 多态性，随后使用 NlaIII 酶消化和 PCR-ARMS 技术。
结果
在所研究的组中，除了 HDL 和 LDL 水平外，在临床特征方面存在显著差异（p 值<0.05）。关于患者的人口统计学和临床特征，rs1800795 的 C/G 和 G/G 基因型与 FBS 水平之间存在显著相关性（p 值=0.002）。此外，rs1800587 在 LPI 中 LH 水平和 LPAs 中 FBS 水平方面显示 CC 和 CT 基因型之间存在显著关系（p 值=0.04）。在三个研究组中，rs1800795 的频率和 rs1800587 基因型的频率之间没有显著差异（p 值>0.05）。研究的变体处于哈迪-温伯格平衡中。
结论
本研究表明，rs1800795 和 rs1800587 与伊朗患者的 PCOS 没有直接关联，而 SNP 与影响疾病的某些因素之间存在间接关系。然而，使用全基因组关联分析是获得有关疾病遗传观点的更可靠信息的适当建议。据我们所知，这是第一项表明所检查的 SNP 在伊朗 PCOS 人群中起作用的报告。
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