Vascular endothelial growth factor gene +405 C/G polymorphism is associated with susceptibility to advanced stage endometriosis

Kim, Sung Hoon; Choi, Young Min; Choung, Seon Ha; Jun, Jong Kwan; Kim, Jung Gu; Moon, Shin Yong

doi:10.1093/humrep/dei146

Cited by 79 publications

(99 citation statements)

References 21 publications

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“…Additionally, no contribution of the +936 C/T SNP with endometriosis in Korean females has been observed (25). However, the +405 G/C VEGF polymorphism has been associated with a higher susceptibility of endometriosis in Northern Iran, Turkish, South Indian, Italian and Korean females (23,(26)(27)(28)(29)43). Bhanoori et al (44) demonstrated that the -460T/+405C haplotype of VEGF was less frequently identified in females with endometriosis compared to the controls, and VEGF -460 T/T homozygotes and the T allele are associated with a higher risk of endometriosis in Chinese females.…”

Section: Discussionmentioning

confidence: 99%

“…Genomic DNA was isolated from peripheral blood leukocytes by salt extraction. SNPs for genotyping were selected based on previous case-control studies (23)(24)(25)(26)(27)(28)(29). DNA samples were genotyped for three SNPs, -460 C/T (rs833061), +405 G/C (rs2010963) and +936 C/T (rs3025039), in VEGF.…”

Section: Methodsmentioning

confidence: 99%

“…Although the association of various VEGF polymorphisms with the development of endometriosis in various ethnicities has been evaluated, the data are inconsistent between different studies (23)(24)(25)(26)(27)(28)(29). Therefore, the present study aimed to investigate the distribution of VEGF -460 C/T (rs833061), +405 G/C (rs2010963) and +936 C/T (rs3025039) single-nucleotide polymorphisms (SNPs) in females with endometriosis-related infertility and a control group.…”

Section: Introductionmentioning

confidence: 99%

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Involvement of vascular endothelial growth factor −460 C/T, +405 G/C and +936 C/T polymorphisms in the development of endometriosis

et al. 2014

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Abstract. There are inconsistent data on the contribution of vascular endothelial growth factor (VEGF) -460 C/T (rs833061), +405 G/C (rs2010963) and +936 C/T (rs3025039) single-nucleotide polymorphisms (SNPs) to endometriosis in different ethnicities. Therefore, using high-resolution melting curve analysis, the present study examined the distribution of these SNPs in females with endometriosis-related infertility and a control group. None of the three VEGF SNPs were associated with endometriosis-related infertility in the dominant and recessive models. The lowest P-values of the trend were observed for the VEGF +936 C/T (rs3025039) SNP in endometriosis-related infertility (P trend =0.149). Similarly, haplotype analyses of VEGF SNPs did not demonstrate any SNP combination as a risk for endometriosis-related infertility, and the lowest overall P-values, P=0.141 and P corr =0.395, were observed for a haplotype (TGT) of the above SNPs. Taken together, these results did not demonstrate the contribution of

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Involvement of vascular endothelial growth factor −460 C/T, +405 G/C and +936 C/T polymorphisms in the development of endometriosis

et al. 2014

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“…The first studies describing the role of the 460 TϾC polymorphism were conducted on Asians (20,21). Their results indicated that the frequency of the T allele was about 75%, and the frequency of the C allele was about 25%.…”

Section: Discussionmentioning

confidence: 99%

Genetic Risk Factors of Bronchopulmonary Dysplasia

et al. 2008

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ABSTRACT:The aim of the study was to assess the association between bronchopulmonary dysplasia (BPD) and polymorphisms of genes coding for vascular endothelial growth factor (VEGF), transforming growth factor (TGF-␤1), insulin-like growth factor (IGF-1), and 5,10-methylenetetrahydrofolate reductase (MTHFR). A sample of 181 newborns with mean gestational age of 28 wk was prospectively evaluated. Molecular analysis of TGF-␤1 Ϫ800GϾA, Ϫ509CϾT, 10TϾC, 25GϾC, VEGF Ϫ460TϾC and 405GϾC and MTHFR 677CϾT polymorphisms were performed and the number of CA repeats in the promoter region of IGF-1 gene was assessed. The frequency of all TGF-␤1, IGF-1, and MTHFR polymorphisms, as well as the frequency of VEGF 405GϾC polymorphism was similar in all groups. The newborns with Ϫ460TT and Ϫ460CT genotypes were significantly overrepresented in the BPD groups compared with the no BPD group. Multivariate analysis revealed that carrying T allele increased the risk of BPD by 9% (95%CI: 2-14%) above the baseline risk established for given gestational age, length of oxygen therapy, and sex. Based on our data from a single center, we propose that VEGF Ϫ460TϾC polymorphism may influence the risk of BPD. A n increase in survival of extremely preterm infants has been associated with an increased incidence of bronchopulmonary dysplasia (BPD) (1), which has become a major clinical challenge because of its serious health consequences. Surviving infants with BPD are at higher risk for recurrent respiratory infections, bronchial hyperreactivity, repeated hospitalizations, and neurodevelopmental abnormalities (1,2).The current consensus is that BPD is a complex disease: the interaction of a susceptible host with a multitude of external risk factors underlies its pathogenesis. It is still unclear why BPD progresses to severe disease in one group of very low birth weight (VLBW) infants but regresses spontaneously in other infants with similar clinical characteristics. This difference in BPD development may result from differences in reactions to inflammatory stimuli and varied ability to tolerate oxidative stress and inflammation. Genetic foundations for the development of BPD are implicated in twin studies, which reveal highly significant concordance rates for BPD: 3.69-fold in monozygotic and 1.4-fold in dizygotic twins (3).The criteria for selection of BPD candidate genes in the present study were their potential involvement in angiogenesis and alveolarization regulating mechanisms, as well as their involvement in free radical elimination.The first factor worth examining is vascular endothelial growth factor (VEGF). VEGF is a relatively specific endothelial cell mitogen that regulates endothelial cell differentiation and angiogenesis, and plays a central role in vascular repair. VEGF has multiple roles in vascular development and maintenance and is essential for the formation of embryonic vasculature (4,5). The absence of VEGF results in impaired fetal lung microvascular development. The VEGF gene is also a good candidate because there are a consid...

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“…Besides, the HSD17B1 gene (17β-hydroxysteroid dehydrogenase typo 1), 17β-HSD reductase dehydrogenase is a gene of the short chain superfamily (SDR) [5], produce the enzyme that catalyzes the final step of the estradiol biosynthesis, in other words, the conversion of the estrone in estradiol, which is also expressed in the endometrium [6,7].…”

Section: Introductionmentioning

confidence: 99%

CYP2C19 polymorphism increases the risk of endometriosis

Christofolini¹,

Amaro

Mafra

et al. 2014

J Assist Reprod Genet

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Purpose Estrogen metabolizing gene mutations can be associated with defective hormonal signaling leading to disease processes. Endometriosis is an estrogen dependent that can be influenced by defective signaling in the estrogen pathway. Objectives To evaluate the association of A/G 85952 CYP2C19 and A/G 937 HSD17B1 gene polymorphisms with endometriosis through the investigation of a large Brazilian sample of women with endometriosis and a fertile control group. Methods Five hundred women with endometriosis and 500 women without endometriosis were tested for CYP2C19 and HSD17B1 polymorphisms, by TaqMan Real Time PCR. The results were statistically analyzed by chi-square, logistic regression and tested for Hardy-Weinberg equilibrium. Results The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients with endometriosis and control group showed a statistically significant difference (p=0.0203) and for the HSD17B1 polymorphism (rs605059) differences were not significant (p=0.0687). Comparing the stages I/II and III/IV endometriosis with the control group for the CYP2C19 we observed p=0.0133 and p= 0.0564, respectively, and for HSD17B1 the values for p= 0.4319 and p=0.0667. Conclusion We observed that CYP2C19 polymorphism is associated with endometrisis in Brazilian women and can be considered a potential biomarker of the disease.

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Vascular endothelial growth factor gene +405 C/G polymorphism is associated with susceptibility to advanced stage endometriosis

Abstract: These findings suggest that the VEGF +405 C/G polymorphism may be associated with the risk of advanced stage endometriosis in the Korean population.

Cited by 79 publications

References 21 publications

Involvement of vascular endothelial growth factor −460 C/T, +405 G/C and +936 C/T polymorphisms in the development of endometriosis

Involvement of vascular endothelial growth factor −460 C/T, +405 G/C and +936 C/T polymorphisms in the development of endometriosis

Genetic Risk Factors of Bronchopulmonary Dysplasia

CYP2C19 polymorphism increases the risk of endometriosis

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