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多囊卵巢综合征的代谢和激素特征:胰岛素受体基因变异的启示。

Metabolic and hormonal profiling in polycystic ovarian syndrome: insights into INSR gene variations.

机构信息

Koya Technical Institute, Erbil Polytechnic University, KRG, Iraq.

Ministry of Health, Garmian General Directorate of Health, KRG, Iraq.

出版信息

Mol Biol Rep. 2024 Sep 17;51(1):989. doi: 10.1007/s11033-024-09924-5.

DOI:10.1007/s11033-024-09924-5
PMID:39287700
Abstract

BACKGROUND

Polycystic Ovary Syndrome (PCOS) is a hormonal disorder characterized by irregular periods, excess androgen levels, and polycystic ovaries, affecting many women of reproductive age.

METHODS AND RESULTS

This study employed statistical and molecular analyses to compare hormone and metabolic markers between PCOS patients and controls. Sanger sequencing identified two INSR gene variants linked to high insulin and pre-diabetic conditions. Statistically, no significant age differences were detected (p = 0.492) between the overall PCOS patient pool and controls. However, a substantial variation in Vitamin D levels was observed within PCOS patients compared to controls (p = 0.0006), suggesting an association with PCOS. Correlations between Vitamin D and insulin, as well as HbA1c levels (R = 0.141 and 0.143, respectively), suggest Vitamin D's potential impact on glycemic control. Significant differences were found in HbA1c (p < 0.0001), insulin (p < 0.0001), and LDL (p = 0.0004) levels between PCOS patients and controls, highlighting marked disparities in these metabolic markers. LH levels also showed a significant contrast (p < 0.0001), while progesterone levels displayed a notable difference (p = 0.007) between the two groups. Correlation analyses within PCOS patients demonstrated associations among LDL, HbA1c, and insulin, with no such correlations observed in control cases. Additionally, Sanger sequencing identified two INSR gene variants, c.3614C > T (p.Pro1205Leu) and c.3355C > T (p.Arg1119Trp), associated with high insulin, LH, and pre-diabetic conditions. These amino acid changes may trigger metabolic imbalances and hormonal irregularities, potentially contributing to the development of PCOS.

CONCLUSIONS

The findings highlight the multifaceted nature of PCOS, revealing significant metabolic, hormonal, and genetic differences compared to controls. These insights may inform tailored interventions and management strategies for the complex associations characteristic of PCOS.

摘要

背景

多囊卵巢综合征(PCOS)是一种以月经不规律、雄激素水平升高和多囊卵巢为特征的激素紊乱疾病,影响着许多育龄期女性。

方法和结果

本研究采用统计和分子分析方法比较了 PCOS 患者和对照组的激素和代谢标志物。Sanger 测序确定了两个与高胰岛素和糖尿病前期相关的 INS 基因变异。统计分析显示,PCOS 患者总体和对照组之间的年龄无显著差异(p=0.492)。然而,与对照组相比,PCOS 患者的维生素 D 水平存在显著差异(p=0.0006),这表明维生素 D 与 PCOS 之间存在关联。维生素 D 与胰岛素和 HbA1c 水平之间存在相关性(R=0.141 和 0.143),这表明维生素 D 可能对血糖控制有影响。PCOS 患者和对照组之间的 HbA1c(p<0.0001)、胰岛素(p<0.0001)和 LDL(p=0.0004)水平存在显著差异,这突出表明这些代谢标志物存在明显差异。LH 水平也存在显著差异(p<0.0001),而孕激素水平在两组之间存在显著差异(p=0.007)。PCOS 患者内的相关性分析表明 LDL、HbA1c 和胰岛素之间存在相关性,但在对照组中未观察到这种相关性。此外,Sanger 测序确定了两个 INS 基因变异,c.3614C>T(p.Pro1205Leu)和 c.3355C>T(p.Arg1119Trp),与高胰岛素、LH 和糖尿病前期相关。这些氨基酸变化可能引发代谢失衡和激素异常,从而可能导致 PCOS 的发生。

结论

这些发现突出了 PCOS 的多面性,与对照组相比,PCOS 存在显著的代谢、激素和遗传差异。这些见解可能为 PCOS 特征性的复杂关联提供信息,以便制定有针对性的干预和管理策略。

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Association between polycystic ovarian morphology and insulin resistance in women with polycystic ovary syndrome.多囊卵巢综合征女性的多囊卵巢形态与胰岛素抵抗之间的关联。
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Polycystic Ovary Syndrome: Etiology, Current Management, and Future Therapeutics.多囊卵巢综合征:病因、当前治疗及未来疗法
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Insulin Resistance in Polycystic Ovarian Syndrome.多囊卵巢综合征中的胰岛素抵抗
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Molecular characterization of Canna yellow streak virus with divergent coat protein N-terminal fragment in Iraq.伊拉克具有不同外壳蛋白N端片段的美人蕉黄条病毒的分子特征分析
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