Document Details
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Document Type |
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Article In Journal |
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Document Title |
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Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population. Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population. |
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Document Language |
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English |
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Abstract |
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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.
(Continued on next page) |
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ISSN |
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1471-2164 |
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Journal Name |
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BMC genomics |
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Volume |
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17 |
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Issue Number |
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9 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Monday, July 17, 2017 |
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Researchers
| Assila Ben Salem | Ben Salem, Assila | Researcher | Doctorate | |
| Fatma Megdich | Megdich, Fatma | Researcher | Doctorate | |
| Olfa Kacem | Kacem, Olfa | Researcher | Doctorate | |
| Malek Souayeh | Souayeh, Malek | Researcher | Doctorate | |
| Faten Hachani Ben Ali | Ben Ali, Faten Hachani | Researcher | Doctorate | |
| Sondes Hizem | Hizem, Sondes | Researcher | Doctorate | |
| Faouzi Janhai | Janhai, Faouzi | Researcher | Doctorate | |
| Mounir Ajina | Ajina, Mounir | Researcher | Doctorate | |
| Muhammad Abu-Elmagd | Abu-Elmagd, Muhammad | Researcher | Doctorate | |
| Mourad Assidi | Assidi, Mourad | Researcher | Doctorate | |
| Mohammed H. Al Qahtani | Al Qahtani, Mohammed H. | Researcher | Doctorate | |
| Touhami Mahjoub | Mahjoub, Touhami | Researcher | Doctorate | |
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