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首页> 外文期刊>BMC Genomics >Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population
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Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population

机译：突尼斯妇女人群多囊卵巢综合征中的血管内皮生长因子（VEGFA）基因变异

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Background Polycystic ovary syndrome (PCOS) is characterized by the growth of a number of small cysts on the ovaries which leads to sex hormonal imbalance. Women who are affected by this syndrome suffer from irregular menstrual cycles, decline in their fertility, excessive hair growth, obesity, acne and most importantly cardiac function problems. The vascular endothelial growth factor (VEGF) plays a pivotal role in tissue vascularization in general and in the pathogenesis of many diseases. The PCOS was found to be associated with high expression levels of VEGF. In women who undergo assisted reproductive procedures (ART), VEGF was found to be a key mediator of other factors to control ovary angiogenesis. Here, we set out to examine the association of VEGFA gene polymorphism with PCOS and its components in a population of Tunisia women to enhance our understanding of the genetic background leading angiogenesis and vascularization abnormalities in PCOS. Methods The association of VEGFA gene with PCOS and its components was examined in a cohort of 268 women from Tunisia involving 118 PCOS patients and 150 controls. VEGFA gene variations were assessed through the analysis of the following SNPs rs699947 (A/C), rs833061 (C/T), rs1570360 (G/A), rs833068 (G/A), rs3025020 (C/T), and rs3025039 (C/T). The linkage disequilibrium between SNPs was assessed using HAPLOVIEW software while combination of SNPs into haplotypes in the population and the reconstruction of the cladogram were carried-out by PHASE and ARLEQUIN programs, respectively. Genetic association and genotype-phenotype correlations were calculated by logistic regression and non-parametric tests (Kruskall-Wallis and Mann–Whitney tests), respectively, using StatView program. Results We observed 10 haplotypes in our studied cohort whereH1 (ACGG), H2 (ACAG), H7 (CTGG) and H8 (CTGA) were the most frequent. We observed the association of the genotype CT of the SNP rs30225039 with PCOS phenotype ( P =?0.03; OR 95 % CI?=?2.05 [1.07–3.90]) and a trend for correlation of the pair of haplotypes H2/H2 with prolactin levels in plasma ( P =?0.077; 193.5?±?94.3 vs 45.7?±?7.2). These data are consistent with literature and highlight one more time the role of vascularization in the pathogeny of PCOS. Conclusions LD pattern in VEGF locus showed a similar LD pattern between the Tunisian population and the CEU. More haplotypes in the Tunisian population than in CEU was observed (22 haplotypes vs 16 haplotypes) suggesting higher recombination rate in Tunisians. The study showed that there was any advantage of using haplotypes compared with SNPs taken alone.
机译：背景多囊卵巢综合症（PCOS）的特征是卵巢上许多小囊肿的生长，导致性激素失衡。受此综合征影响的妇女患有月经不调，生育能力下降，头发过度生长，肥胖，痤疮，最重要的是心脏功能问题。血管内皮生长因子（VEGF）通常在组织血管形成和许多疾病的发病机理中起关键作用。发现PCOS与VEGF的高表达水平有关。在接受辅助生殖程序（ART）的女性中，发现VEGF是控制卵巢血管生成的其他因素的关键介体。在这里，我们着手检查突尼斯妇女群体中VEGFA基因多态性与PCOS及其成分的关联，以增强我们对PCOS中导致血管生成和血管生成异常的遗传背景的了解。方法对来自突尼斯的268名妇女（共118名PCOS患者和150名对照）的队列研究了VEGFA基因与PCOS及其组成的关系。通过分析以下SNP rs699947（A / C），rs833061（C / T），rs1570360（G / A），rs833068（G / A），rs3025020（C / T）和rs3025039（ C / T）。使用HAPLOVIEW软件评估了SNP之间的连锁不平衡，而分别通过PHASE和ARLEQUIN程序将SNP组合为种群的单倍型和重现了克拉德。使用StatView程序分别通过逻辑回归和非参数检验（Kruskall-Wallis和Mann-Whitney检验）计算了遗传关联和基因型-表型的相关性。结果我们研究的队列中观察到10个单倍型，其中H1（ACGG），H2（ACAG），H7（CTGG）和H8（CTGA）最常见。我们观察到SNP rs30225039的CT基因型与PCOS表型的相关性（P =？0.03;或95％CI？=？2.05 [1.07–3.90]）以及单倍型H2 / H2与催乳素之间的相关趋势血浆水平（P =？0.077; 193.5？±？94.3 vs 45.7？±？7.2）。这些数据与文献一致，并再次强调了血管化在PCOS致病中的作用。结论VEGF基因座的LD模式在突尼斯人群和CEU之间表现出相似的LD模式。突尼斯人的单倍型比CEU多（22个单倍型对16个单倍型），表明突尼斯人的重组率更高。研究表明，与单独使用SNP相比，使用单倍型具有任何优势。

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