多囊卵巢综合征正常和超重患者体内 VDR 基因多态性和维生素 D 水平的作用

IF 2.9 4区 生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH Journal of Genetics Pub Date : 2024-01-17 DOI:10.1007/s12041-023-01461-7
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引用次数: 0

摘要

摘要 多囊卵巢综合征(PCOS)是女性最常见的内分泌疾病之一。近年来,维生素 D 受体(VDR)基因变异和 VitD3 水平对多囊卵巢综合征临床特征的影响已被频繁描述。本研究旨在确定 PCOS 患者中 VDR ApaI、TaqI 和 Cdx2 基因变异与 VitD3 水平之间的关系。患者分为两组:BMI<25和BMI≥25。通过实时聚合酶链式反应(PCR)测定 VDR 基因型,通过 ELISA 检测血清 VitD3 水平。我们观察到,与 BMI<25 组相比,BMI≥25 组中 Apa1 AC 基因型、C 等位基因和 Cdx2 T 等位基因的频率增加。此外,ApaI C 等位基因、Taq1 AA 基因型和 A 等位基因、Cdx2 CC 基因型和 C 等位基因与 BMI≥25 组患者甘油三酯、总胆固醇、低密度脂蛋白胆固醇水平升高有关。在研究所有多囊卵巢综合症患者的 VitD3 水平与临床特征之间的关系时,无论 BMI 如何区分,均发现低密度脂蛋白胆固醇和睾酮水平之间存在正相关。本研究结果表明,VDR 变异是多囊卵巢综合症最重要的风险因素之一,尤其是对体重指数≥25 的患者而言。
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Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women. In recent years, the effects of vitamin D receptor (VDR) gene variants and VitD3 levels on clinical features of PCOS have been frequently described. In this study, we aimed to determine the relationship between VDR ApaI, TaqI and Cdx2 gene variants and VitD3 levels in PCOS patients. Patients were divided into two groups: BMI<25 and BMI≥25. VDR genotypes were determined by real-time polymerase chain reaction (PCR) and serum VitD3 levels were examined by ELISA. We observed that frequencies of the Apa1 AC genotype, C allele and Cdx2 T allele are increased in the BMI≥25 group compared to BMI<25 group. Also, the ApaI C allele, Taq1 AA genotype and A allele, Cdx2 CC genotype and C allele are associated with increased triglyceride, total cholesterol, LDL-cholesterol levels in patients with BMI≥25. When examining the relationship between VitD3 levels and clinical profiles in all PCOS patients, regardless of BMI distinction, it is determined that there is a positive correlation between LDL-cholesterol and ftestosterone levels. The present findings suggest that VDR variants are one of the most important risk factors for PCOS, especially for patients with BMI≥25.

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来源期刊
Journal of Genetics
Journal of Genetics 生物-遗传学
CiteScore
3.10
自引率
0.00%
发文量
72
审稿时长
1 months
期刊介绍: The journal retains its traditional interest in evolutionary research that is of relevance to geneticists, even if this is not explicitly genetical in nature. The journal covers all areas of genetics and evolution,including molecular genetics and molecular evolution.It publishes papers and review articles on current topics, commentaries and essayson ideas and trends in genetics and evolutionary biology, historical developments, debates and book reviews. From 2010 onwards, the journal has published a special category of papers termed ‘Online Resources’. These are brief reports on the development and the routine use of molecular markers for assessing genetic variability within and among species. Also published are reports outlining pedagogical approaches in genetics teaching.
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