单核苷酸变异在青少年多囊卵巢综合征相关基因中的作用
Role of Single Nucleotide Variants in the Gene in Adolescents with Polycystic Ovary Syndrome.
作者信息
Lidaka Lasma, Bekere Laine, Lazdane Gunta, Lazovska Marija, Dzivite-Krisane Iveta, Gailite Linda
机构信息
Department of Paediatric Gynaecology, Children's Clinical University Hospital, LV-1004 Riga, Latvia.
Department of Obstetrics and Gynaecology, Riga Stradins University, LV-1007 Riga, Latvia.
出版信息
Biomedicines. 2022 Jul 13;10(7):1688. doi: 10.3390/biomedicines10071688.
BACKGROUND
Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women. It can manifest in adolescence, affecting up to 8% of adolescents. Long-term health consequences characteristic of PCOS are impaired fertility, increased risk of type 2 diabetes, metabolic disorders and cardiovascular disease. All of these sequelae are exacerbated by increased body weight, a major feature of PCOS. The protein encoded by the gene plays a key role in one of the pivotal mechanisms that govern cellular/organismal metabolism and contributes to the pathogenesis of metabolic diseases.
AIM
To compare the prevalence of single nucleotide variants (SNVs) in the gene among adolescents with PCOS, adolescents at risk of PCOS development and healthy adolescents, and assess their association with the clinical characteristics of PCOS.
RESULTS
The frequencies of the five investigated gene SNVs (rs11225161, rs11225166, rs3858420, rs11225138 and rs79981660) were not significantly different among adolescents with PCOS, risk group patients and healthy controls. Furthermore, none of the SNVs contributed to the clinical characteristics of adolescents with PCOS and adolescents at risk of PCOS development.
CONCLUSIONS
No significant associations were found between PCOS in adolescents and the five investigated SNVs in the gene.
背景
多囊卵巢综合征（PCOS）是女性中最常见的内分泌疾病之一。它可在青春期出现，影响高达8%的青少年。PCOS的长期健康后果包括生育能力受损、2型糖尿病风险增加、代谢紊乱和心血管疾病。体重增加会加剧所有这些后遗症，而体重增加是PCOS的一个主要特征。该基因编码的蛋白质在控制细胞/机体代谢的关键机制之一中起关键作用，并参与代谢疾病的发病机制。
目的
比较多囊卵巢综合征青少年、有PCOS发病风险的青少年和健康青少年中该基因单核苷酸变异（SNV）的患病率，并评估它们与PCOS临床特征的关联。
结果
在患有PCOS的青少年、风险组患者和健康对照中，所研究的该基因的五个SNV（rs11225161、rs11225166、rs3858420、rs11225138和rs79981660）的频率没有显著差异。此外，没有一个SNV与患有PCOS的青少年和有PCOS发病风险的青少年的临床特征相关。
结论
青少年PCOS与所研究的该基因的五个SNV之间未发现显著关联。
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