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血管内皮生长因子(VEGF)+405 G>C 5'非翻译区多态性与多囊卵巢综合征风险:一项针对南印度女性的研究

The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women.

作者信息

Guruvaiah Praveen, Govatati Suresh, Reddy Tumu Venkat, Lomada Dakshayani, Deenadayal Mamata, Shivaji Sisinthy, Bhanoori Manjula

机构信息

Department of Biochemistry, Osmania University, 500 007, Hyderabad, India,

出版信息

J Assist Reprod Genet. 2014 Oct;31(10):1383-9. doi: 10.1007/s10815-014-0310-4. Epub 2014 Aug 9.

DOI:10.1007/s10815-014-0310-4
PMID:25106940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4171416/
Abstract

PURPOSE

The aim of this study was to investigate the association between two common single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene (-460C/T and +405G/C) and polycystic ovary syndrome (PCOS) risk in south Indian women.

METHODS

This study involves clinically confirmed PCOS patients (n = 126) and non-PCOS controls (n = 130) of south Indian origin (Dravidian linguistic group). Genotyping of the VEGF gene -460C/T and +405G/C SNPs were performed by PCR and sequencing analysis. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D') for pairwise linkage disequilibrium (LD) were assessed by Haploview Software.

RESULTS

The frequencies of +405G/G genotype (P = 0.03) and +405G alleles (P = 0.006) were significantly higher in patients compared to controls. Whereas the genotype and allele frequencies of -460C/T SNP were not significantly different between patients and controls. In addition, LD analysis revealed no significant difference between patients and controls.

CONCLUSION

Our findings suggest that the VEGF +405G/C polymorphism may constitute an inheritable risk factor for PCOS in south Indian women.

摘要

目的

本研究旨在调查血管内皮生长因子(VEGF)基因中两个常见的单核苷酸多态性(SNP)(-460C/T和+405G/C)与南印度女性多囊卵巢综合征(PCOS)风险之间的关联。

方法

本研究纳入了临床确诊的南印度裔(达罗毗荼语系)PCOS患者(n = 126)和非PCOS对照(n = 130)。通过聚合酶链反应(PCR)和测序分析对VEGF基因-460C/T和+405G/C SNP进行基因分型。使用Haploview软件评估多个位点的单倍型频率和成对连锁不平衡(LD)的标准化不平衡系数(D')。

结果

与对照组相比,患者中+405G/G基因型(P = 0.03)和+405G等位基因(P = 0.006)的频率显著更高。而-460C/T SNP的基因型和等位基因频率在患者和对照组之间无显著差异。此外,LD分析显示患者和对照组之间无显著差异。

结论

我们的研究结果表明,VEGF +405G/C多态性可能是南印度女性PCOS的一个可遗传风险因素。

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