Haplotyping strategy highlights the specificity of FTO gene association with polycystic ovary syndrome in Tunisian women population

Salem, A. Ben; Attaoua, Redha; Mtiraoui, Nabil; Meddeb, S.; Kacem, Olfa; Ajina, Mounir; Souissi, Moncef; Poucheret, Patrick; Normand, Christophe; Mahjoub, Touhami; Grigorescu, Florin

doi:10.1016/j.gene.2014.12.004

Cited by 8 publications

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“…Differences of VEGF plasma levels between PCOS and healthy women were observed in some populations but not in others and this could be due to genetic differences between ethnic groups [ 16 – 19 ] Studying VEGFA gene association in complex disorders should take into account the gene variability in the population through the LD pattern assessment and SNPs combination into haplotypes. We reported in a previous study the role of haplotypes as powerful genetic markers for better characterization of gene association in the Tunisian population and observed Fat mass and obesity associated (FTO) gene association with PCOS through haplotypes but not through SNPs taken alone [ 12 ]. Indeed, we observed LD pattern in the FTO locus less in the Tunisian population compared with the CEU Caucasian one justifying so the ability of haplotypes for detecting genetic association in such conditions.…”

Section: Resultsmentioning

confidence: 99%

“…The aim was to better characterize the genetic background responsible for angiogenesis and vascularization abnormalities in PCOS. This will be achieved through testing the association of VEGFA gene in a population where it was previously highlighted the need for haplotyping approach in order to understand better the genetic association in populations with mosaic anthropogenetic components [ 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

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Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population

et al. 2016

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BackgroundPolycystic 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.MethodsThe 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.ResultsWe 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.ConclusionsLD 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.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Vascular endothelial growth factor (VEGFA) gene variation in polycystic ovary syndrome in a Tunisian women population

et al. 2016

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“…To the best of the researcher's knowledge, no study has yet investigated the effect of rs9930506 polymorphism on weight loss interventions in male adolescents. Although most of the studies on the role of FTO gene genotype in obesity and body composition have been conducted on the rs9939609 polymorphism, several studies have shown that polymorphisms located in the intron of an FTO gene are associated with each other as haplotypes [ 30 , 31 , 32 ]. A meta‐analysis that examined the link between the FTO gene polymorphisms and obesity risk in the Chinese population found a significant association between FTO SNPs and increased obesity risk, with a pooled odds ratio of 1.30.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of a Comprehensive Weight Reduction Intervention in Male Adolescents With Different FTO Genotypes

Roumi,

Salimi,

Mahmoudi

et al. 2024

Endocrino Diabet & Metabol

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BackgroundThe FTO gene polymorphisms may influence the effects of lifestyle interventions on obesity. The present study aimed to assess the influence of the rs9930506 FTO gene polymorphism on the success of a comprehensive weight loss intervention in male adolescents with overweight and obesity.MethodsThis study was carried out on 96 adolescent boys with overweight and obesity who were randomly assigned to the intervention (n = 53) and control (n = 43) groups. The blood samples of the participants were collected, and the FTO gene was genotyped for the rs9930506 polymorphism. A comprehensive lifestyle intervention including changes in diet and physical activity was performed for 8 weeks in the intervention group.ResultsFollowing the lifestyle intervention, BMI and fat mass decreased significantly in the intervention group compared with the control group (both p < 0.05), while no change was found in weight, height or body muscle percentage between the groups. The participants in the intervention group with the AA/AG genotype and not in carriers of the GG genotype had a significantly higher reduction in BMI (−1.21 vs. 1.87 kg/m2, F = 4.07, p < 0.05) compared with the control group.ConclusionThe intervention in individuals with the AA/AG genotype has been significantly effective in weight loss compared with the control group. The intervention had no association effect on anthropometric indices in adolescents with the GG genotype of the FTO rs9930506 polymorphism.Trial RegistrationName of the registry: National Nutrition and Food Technology Research Institute; Trial registration number: IRCT2016020925699N2; Date of registration: 24/04/2016; URL of trial registry record: https://www.irct.ir/trial/21447

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Analysis of VEGF gene polymorphisms and serum VEGF protein levels contribution in polycystic ovary syndrome of patients

Bao

Syed

aloahd³

2019

Mol Biol Rep

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Haplotyping strategy highlights the specificity of FTO gene association with polycystic ovary syndrome in Tunisian women population

Cited by 8 publications

References 22 publications

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

Efficacy of a Comprehensive Weight Reduction Intervention in Male Adolescents With Different FTO Genotypes

Analysis of VEGF gene polymorphisms and serum VEGF protein levels contribution in polycystic ovary syndrome of patients

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