Alarcón-Granados Maria Camila, Moreno-Ortíz Harold, Esteban-Pérez Clara Inés, Ferrebuz-Cardozo Atilio, Camargo-Villalba Gloria Eugenia, Forero-Castro Maribel
Facultad de Ciencias. Grupo de Investigación en Ciencias Biomédicas (GICBUPTC). Universidad Pedagógica y Tecnológica de Colombia, Tunja 150003, Colombia.
Departamento Biogenética Reproductiva. In Vitro Colombia. Bogotá, Colombia.
Heliyon. 2022 Jun 6;8(6):e09673. doi: 10.1016/j.heliyon.2022.e09673. eCollection 2022 Jun.
Polycystic ovary syndrome (PCOS) is a multifactorial and polygenic endocrine-metabolic disorder in women of reproductive age. SNPs in the gene have been identified as PCOS risk loci. In this study, we evaluated the frequency of five polymorphisms in a sample of Colombian women with PCOS, and their association with clinical and endocrine-metabolic parameters. Forty-nine women with PCOS and forty-nine healthy women were included. Allelic discrimination was performed in the gene by iPLEX and the MassARRAY system (Agena Bioscience). Haploview software was conducted to analyze the linkage disequilibrium (LD) and haplotypes of polymorphisms. There was an association between the genotypes TT of rs12468394, CC + AA of rs12468394, and GG of rs6544661 and an increase in the levels of free testosterone. The CC + AA of rs12468394 genotype also was associated with an increase of androstenedione levels. gene SNPs were not associated with PCOS risk. There was very strong LD among the SNPs. No significant differences in the frequency of haplotypes between groups were observed. The statistical power of this analysis is low because of the small number of samples analyzed. Additional studies involving large populations of Colombian women with PCOS are needed to verify the role of the gene in this disorder.
多囊卵巢综合征（PCOS）是育龄期女性的一种多因素、多基因的内分泌代谢紊乱疾病。该基因中的单核苷酸多态性（SNPs）已被确定为PCOS风险位点。在本研究中，我们评估了哥伦比亚PCOS女性样本中五种多态性的频率，以及它们与临床和内分泌代谢参数的关联。纳入了49名PCOS女性和49名健康女性。通过iPLEX和MassARRAY系统（Agena Bioscience）对该基因进行等位基因鉴别。使用Haploview软件分析多态性的连锁不平衡（LD）和单倍型。rs12468394的TT基因型、rs12468394的CC + AA基因型以及rs6544661的GG基因型与游离睾酮水平升高之间存在关联。rs12468394基因型的CC + AA也与雄烯二酮水平升高有关。该基因的SNPs与PCOS风险无关。这些SNPs之间存在非常强的LD。两组之间单倍型频率未观察到显著差异。由于分析的样本数量较少，本分析的统计效力较低。需要对大量哥伦比亚PCOS女性进行进一步研究，以验证该基因在这种疾病中的作用。
