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Study on the Association of SNPs of VEGF Genes with the Susceptibility of Endometriosis and Adenomyosis

Author: LiuQing
Tutor: KangShan;LiZuo
School: Hebei Medical University
Course: Obstetrics and Gynaecology
Keywords: Endometriosis Adenomyosis Vascular endothelial growth factor (VEGF) Gene polymorphism Genetic predisposition
CLC: R711.71
Type: Master's thesis
Year: 2009
Downloads: 95
Quote: 1
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Abstract


Objective: endometriosis (endometriosis, EMs, referred to endometriosis) and adenomyosis (adenomyosis, adenomyosis short) is a common gynecological diseases and frequently-occurring disease, genetic factors and environmental factors are caused by the interaction polygenic disease. Endometriosis and adenomyosis is caused by pelvic pain and infertility in women of childbearing age important reasons, although there are a variety of treatment methods, but the effect is not satisfactory. The reason is this type of disease etiology and pathogenesis is not clear. Now widely accepted view of endometriosis is caused because blood reflux, and adenomyosis is due to uterine muscle wall of the defensive barrier destruction caused by the endometrium to compromise, but whether ectopic endometrial cells to outside of the uterus or uterine myometrium, this ectopic endometrial cells you want to survive and develop into endometriosis or adenomyosis, a necessary condition for angiogenesis. In the known angiogenic factors, vascular endothelial growth factor (vascular endothelial growth factor, VEGF) is physiological and pathological angiogenesis regulator of the most important, which can be directly and specifically on vascular endothelial cells, resulting in angiogenesis formation. Human VEGF gene promoter region polymorphism sites, there are some of these polymorphic sites may transcriptional activity by altering gene expression affected, leading to a human individual differences in susceptibility to disease. Studies have shown that VEGF gene promoter region-1154G / A,-460C / T single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs) with a variety of risk-related diseases. This study aimed to investigate the VEGF gene promoter region-1154G / A,-460C / T SNPs with endometriosis and adenomyosis risk relationship further clarify endometriosis and adenomyosis molecular mechanisms. Methods: In this study, case - control study, collected 344 cases of patients with endometriosis and 360 healthy control subjects, 174 cases and 199 cases of patients with adenomyosis healthy control individuals intravenous anticoagulant each 5ml, while recording their medical history and personal and family related information. Using proteinase K digestion - salting method extracted from peripheral blood DNA, using polymerase chain reaction - restriction fragment length polymorphism (polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP) analysis was used to detect VEGF gene promoter-1154G / A,-460C / T polymorphism locus genotype frequencies. Statistical analysis using SPSS11.5 software package (SPSS Company, Chicago, Illinois, USA) for. Case group and control group, age differences t test. Compare genotype frequencies you observed and expected values ??and chi-square test OK Hardy-Weinberg equilibrium analysis. Genotype distribution between the two groups were compared using χ2 test lines × list. Non-conditional Logistic regression method indicates relative risk odds ratio (odds ratio, OR) and 95% confidence interval (confidence interval, CI). 2LD software using EH software and analyzed separately VEGF gene promoter region-460C / T, -1154 G / A 2 polymorphic loci haplotype frequencies and allele linkage disequilibrium. P lt; 0.05 as statistically significant difference in standards. Results: 1 endometriosis and adenomyosis patient's age, age at menarche, gravidity and parity compared with the control group, the difference was not statistically significant (P> 0.05). The healthy control group, VEGF gene promoter region-1154G / A,-460C / T over two genotype frequencies of polymorphic loci meet Hardy-weinberg equilibrium (P> 0.05). 2 VEGF gene promoter region-460C / T polymorphism C, T allele frequency of endometriosis and the control group were 22.7%, 77.3% and 20.6%, 79.4%, compared with no significant difference between the two groups ( P> 0.05); C / C, C / T, T / T genotype frequency of endometriosis and control groups were 3.8%, 37.8%, 58.4% and 4.7%, 31.7%, 63.6%, respectively, compared to the difference was not statistically significant (P> 0.05); and C / TT / T genotype, T / T genotype and the risk of endometriosis unrelated, OR is 0.80 (95% CI = 0.59 ~ 1.09). 3 In adenomyosis group and the control group, VEGF gene promoter region-460C / T polymorphism C, T allele frequencies were 20.7%, 79.3% and 22.1%, 77.9%, compared to the two groups showed no statistically significant (P> 0.05); C / C, C / T, T / T genotype frequencies were 4.0%, 33.3%, 62.6% and 6.0%, 32.2%, 61.8%, respectively, compared to the difference was not statistically significance (P> 0.05); and C / TT / T genotype, T / T genotype and the risk of endometriosis unrelated, OR is 1.04 (95% CI = 0.68 ~ 1.58). 4 endometriosis group and the control group, VEGF gene promoter region-1154G / A polymorphism of the three genotypes (A / A, G / A, G / G) were 1.7%, 28.8%, 69.5 % and 5.8%, 32.8%, 61.4%, the difference was statistically significant (P = 0.006); allele frequency distribution (G, A) were 83.9%, 16.1% and 77.8%, 22.2%, two group, the difference was statistically significant (P = 0.004); and G / AA / A genotype, G / G genotype may significantly increase the risk of endometriosis (OR = 1.43,95% CI = 1.05 ~ 1.96). 5 In adenomyosis group and the control group, VEGF gene promoter region-1154G / A polymorphism genotype frequencies (A / A, G / A, G / G) were 2.9%, 23.6%, 73.6 % and 7.0%, 34.2%, 58.8%, the difference was statistically significant (P = 0.007); allele frequency distribution (G, A), respectively, 14.7%, 85.3% and 24.1%, 75.9%, two group, the difference was statistically significant (P = 0.001); and G / AA / A genotype, G / G genotype may significantly increase the risk of adenomyosis (OR = 1.95,95% CI = 1.26 ~ 3.03). 6 VEGF gene promoter region-1154G / A and-460C / T SNPs loci does not exist between the linkage disequilibrium (D '= 0.34). Conclusions: 1 VEGF gene promoter region-1154G / A polymorphism may be associated with endometriosis and adenomyosis significantly associated risk, that carry G / G genotype significantly increased endometriosis and uterine the risk of adenomyosis. 2 VEGF gene promoter region-460C / T single nucleotide polymorphism may be associated with endometriosis and adenomyosis risk nothing. 3 VEGF gene promoter region-1154G / A and-460C / T SNPs loci does not exist between the linkage disequilibrium.

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CLC: > Medicine, health > Obstetrics and Gynaecology > Gynecology > Other diseases of the female genital > Endometriosis
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