Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages

Magdoud, Kalthoum; Dendana, Maryam; Herbepin, V. Granados; Hizem, Sondes; Jazia, K. Ben; Messaoudi, Safia; Almawi, Wassim Y.; Touraine, Renaud; Mahjoub, Touhami

doi:10.1093/humrep/des033

Cited by 10 publications

(13 citation statements)

References 37 publications

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“…Although significant associations were found between rs2010963 CC genotype and RSM in our study, it agree with the findings of the studies conducted in Bahrain and Turkey, several studies did not report such relationships . Furthermore, our result showed no association between rs699947 genotypes and RSM.…”

Section: Discussionsupporting

confidence: 85%

Association of vascular endothelial growth factor A polymorphisms and aberrant expression of connexin 43 and VEGFA with idiopathic recurrent spontaneous miscarriage

Sajjadi

Ghandil

Shahbazian

et al. 2020

J of Obstet and Gynaecol

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Aim Idiopathic recurrent spontaneous miscarriage (IRSM) is one of the pregnancy outcomes that affects 1–2% of women trying to conceive. Specific genotype or aberrant expression of vascular endothelial growth factor A (VEGFA) and connexin 43 (Cx43) as two important genes for embryonic development are deemed to increase the risk of IRSM. Methods To investigate any possible association of VEGFA polymorphisms and aberrant expression of Cx43 and VEGFA with IRSM, we carried out a case–control study including embryo chorionic villus tissues of 100 pregnant women with IRSM and 100 embryo chorionic villus tissues of healthy pregnant women without history of miscarriage. Restriction fragment length polymorphism was used for genotyping of rs699947 (−2578C/A) and rs2010963 (−634G/C) polymorphisms in VEGFA. Besides, quantitative real‐time PCR was performed for VEGFA and Cx43 expression analysis. Results The results showed that the frequency of −634G/C and C/C genotypes was significantly higher in aborted fetuses (P = 0.001 and P < 0.001, respectively) compared to the control group's. However, the frequency of −2578C/A genotypes was not significantly different between the cases and controls. Moreover, a significant higher expression of VEGF (P = 0.0005) and Cx43 (P = 0.0011) was observed in chorionic villus tissues of women with IRSM. Conclusion The finding demonstrated that IRSM frequency may depend on GC and CC genotypes of rs2010963 VEGF polymorphism and expression level of VEGF and Cx43 in IRSM patients was increased.

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Section: Discussionsupporting

confidence: 85%

Association of vascular endothelial growth factor A polymorphisms and aberrant expression of connexin 43 and VEGFA with idiopathic recurrent spontaneous miscarriage

Sajjadi

Ghandil

Shahbazian

et al. 2020

J of Obstet and Gynaecol

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“…Fifteen studies [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] involving 2702 cases and 2667 controls were eligible for this meta-analysis on the relation of VEGF genetic polymorphism to RPL risk. Of these eligible studies, all were casecontrol designs and conducted in eight countries: five in China, two each in the USA and Bahrain, and one each in other six countries ( Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…All eligible studies were transcribed in English, except three in Chinese (16, 19, and 21). Six relational studies were found on rs833061 polymorphism (17)(18)(19)(20)(21)(22), twelve studies on rs3025039 (9, 10, 12, 13, 15, 17-23), nine studies on rs2010963 (9, 10, 12, 13, 17, 18, 21-23), fourteen studies on rs1570360 (9,(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23), and eleven studies on rs699947 (9,10,12,13,15,(17)(18)(19)(20)(21)(22). The number of cases varied from 38 to 339, and the number of controls varied from 30 to 371.…”

Section: Resultsmentioning

confidence: 99%

Association between vascular endothelial growth factor polymorphism and recurrent pregnancy loss: A systematic review and meta-analysis

Sun

Chen

Mao

et al. 2017

European Journal of Obstetrics & Gynecology and Reproductiv

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“…Our results are concordant with other studies on different diseases apart from cancers that also showed significant risk association. Association of AA genotype of −116G/A polymorphism has been reported with recurrent pregnancy loss [54,55], recurrent miscarriages [56,57], hypertensive nephropathy [58], and end-stage renal disease [59]. In European Caucasian subjects, significant association of −116AA genotype and A allele has been reported with proliferative diabetic retinopathy [37].…”

Section: Discussionmentioning

confidence: 99%

Vascular endothelial growth factor (VEGF) gene polymorphisms and breast cancer risk in Punjabi population from North West India

et al. 2014

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The purpose of this study was to evaluate the association of seven VEGF promoter polymorphisms with breast cancer risk in Punjabi population from North West India. We screened DNA samples of 102 sporadic breast cancer patients and 102 unrelated healthy, gender, and age-matched individuals for seven VEGF promoter polymorphisms [-417 C/T (rs833062), -172 C/A (rs59260042), -165 C/T (rs79469752), -160 C/T, -152 G/A (rs13207351), -141 A/C (rs28357093) and -116 G/A (rs1570360)] by direct sequencing. The frequency of GG, GA, and AA genotype of -152 G/A polymorphism was 26.47 vs 38.34%, 46.08 vs 51.96%, and 27.45 vs 9.80%, in patients and controls, respectively. VEGF -152 AA genotype was significantly associated with increased risk for breast cancer (OR = 4.04, 95%CI, 1.69-9.68, p = 0.001; recessive model OR = 3.48, 95%CI, 1.59-7.63, p = 0.001). For VEGF -116 G/A polymorphism, G and A allele frequencies were 65.2 vs 76.47% and 34.8 vs 23.53% in patients and controls, respectively. Individuals having -116 AA genotype (OR = 3.40; 95%CI, 1.24-9.37; p = 0.014) and A allele (OR = 1.73; 95%CI, 1.12-2.67; p = 0.012) were associated with increased risk for breast cancer. VEGF -165 C/T and -141 A/C polymorphisms were associated with reduced risk for breast cancer. There was significantly decreased frequency of CT genotype (4.90 vs 18.63%; p = 0.002) and T allele (2.45 vs 9.31%; p = 0.003) of -165 C/T polymorphism among breast cancer patients as compared to controls. VEGF -141 A and C allele frequency were 96.57 vs 91.18% and 3.43 vs 8.82% in patients and controls, respectively. Significant reduced risk for breast cancer was observed with AC genotype (OR = 0.34, 95%CI, 0.14-0.86; p = 0.019) and C allele (OR = 0.37; 95%CI, 0.15-0.89; p = 0.023) of -141 A/C polymorphism. We did not observe association of VEGF -417 T/C, -172 C/A, -160 C/T polymorphisms with breast cancer risk in the studied subjects (p > 0.05). The VEGF -152 G/A and -116 G/A polymorphisms were found to be significantly associated with increased risk for breast cancer while -165 C/T and -141 A/C polymorphisms were found to be associated with decreased risk for breast cancer in Punjabi population from North West India.

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Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages

Abstract: These results strongly support that VEGF polymorphisms, in particular-1154G/A and +936C/T, are significantly associated with RSM. Our results confirm, in the largest sample to date, previous works in other populations on VEGF polymorphism in RSM.

Cited by 10 publications

References 37 publications

Association of vascular endothelial growth factor A polymorphisms and aberrant expression of connexin 43 and VEGFA with idiopathic recurrent spontaneous miscarriage

Association of vascular endothelial growth factor A polymorphisms and aberrant expression of connexin 43 and VEGFA with idiopathic recurrent spontaneous miscarriage

Association between vascular endothelial growth factor polymorphism and recurrent pregnancy loss: A systematic review and meta-analysis

Vascular endothelial growth factor (VEGF) gene polymorphisms and breast cancer risk in Punjabi population from North West India

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