Rashid Nadia, Nigam Aruna, Saxena Pikee, Jain S K, Wajid Saima
Department of Biotechnology, School of Chemical and Life Sciences, Jamia Hamdard (Hamdard University), New Delhi, 110062, India.
Department of Gynaecology and Obstetrics, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard (Hamdard University), New Delhi, 110062, India.
Inflamm Res. 2017 Jul;66(7):621-636. doi: 10.1007/s00011-017-1045-3. Epub 2017 Apr 12.
Polycystic ovary syndrome (PCOS), a highly prevalent endocrinopathy is currently being designated as chronic low grade inflammatory state. IL-1β, IL-1Ra and FABP1 are critical mediators of inflammatory processes and are speculated to play a role in the pathogenesis of PCOS. The aim of this study was to study the association of IL-β, IL-1Ra and FABP1 gene polymorphisms with PCOS and related metabolic features.
95 PCOS and 45 age matched healthy control subjects were enrolled in this study.
Polymorphism in genes IL-1β, IL-1Ra and FABP1 was studied by PCR, PCR-RFLP and sequencing methods, respectively. Hormonal and lipid profiles were evaluated for all the subjects.
Hormonal and lipid profiles showed significant differences between PCOS and control subjects. Allele and genotype frequencies of IL-1β, IL-1Ra and FABP1 gene polymorphisms did not vary between the control and PCOS group. However, T allele of C[-511]T variant of IL-1β, allele II in intron 2 of IL-1Ra and A allele of A/G variant of FABP1 (rs2197076) showed significant association with many metabolic features associated with PCOS.
Polymorphism in genes encoding cytokines and proteins involved in lipid metabolism can provide insights into the genetics of the disease and may contribute to assess the associated risk of cardiovascular diseases (CVD), dyslipidemia and metabolic syndrome (MetS) associated with PCOS.
多囊卵巢综合征(PCOS)是一种高度流行的内分泌疾病,目前被认定为慢性低度炎症状态。白细胞介素-1β(IL-1β)、白细胞介素-1受体拮抗剂(IL-1Ra)和脂肪酸结合蛋白1(FABP1)是炎症过程的关键介质,推测它们在PCOS的发病机制中发挥作用。本研究旨在探讨IL-β、IL-1Ra和FABP1基因多态性与PCOS及相关代谢特征的关联。
本研究纳入了95例PCOS患者和45例年龄匹配的健康对照者。
分别采用聚合酶链反应(PCR)、聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)和测序方法研究IL-1β、IL-1Ra和FABP1基因的多态性。对所有研究对象进行激素和血脂水平评估。
PCOS患者与对照者之间的激素和血脂水平存在显著差异。IL-1β、IL-1Ra和FABP1基因多态性的等位基因和基因型频率在对照组和PCOS组之间没有差异。然而,IL-1β基因C[-511]T变异体的T等位基因、IL-1Ra基因第2内含子的II等位基因以及FABP1基因(rs2197076)A/G变异体的A等位基因与许多与PCOS相关的代谢特征显著相关。
编码细胞因子和参与脂质代谢的蛋白质的基因多态性可为该疾病的遗传学研究提供线索,并可能有助于评估与PCOS相关的心血管疾病(CVD)、血脂异常和代谢综合征(MetS)的相关风险。