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巴西女性中col1a2基因多态性与盆腔器官脱垂发生之间的关联。

Association between col1a2 Polymorphism and the Occurrence of Pelvic Organ Prolapse in Brazilian Women.

作者信息

Rosa Josyandra Paula de Freitas, Haddad Raphael Federicci, Maeda Fabiana Garcia Reis, Souto Ricardo Peres, Fernandes Cesar Eduardo, Oliveira Emerson de

机构信息

Faculdade de Medicina do ABC, Santo André, SP, Brazil.

出版信息

Rev Bras Ginecol Obstet. 2019 Jan;41(1):31-36. doi: 10.1055/s-0038-1676599. Epub 2019 Feb 4.

DOI:10.1055/s-0038-1676599
PMID:30716784
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10418595/
Abstract

OBJECTIVE

To evaluate the rs42524 polymorphism of the procollagen type I alpha (α) 2 () gene as a factor related to the development of pelvic organ prolapse (POP) in Brazilian women.

METHODS

The present study involved 112 women with POP stages III and IV (case group) and 180 women with POP stages zero and I (control group). Other clinical data were obtained by interviewing the patients about their medical history, and blood was also collected from the volunteers for the extraction of genomic DNA. The promoter region of the gene containing the rs42524 polymorphism was amplified, and the discrimination between the G and C variants was performed by digestion of the polymerase chain reaction (PCR) products with the MspA1I enzyme followed by agarose gel electrophoresis analysis.

RESULTS

A total of 292 women were analyzed. In the case group, 71 had the G/G genotype, 33 had the G/C genotype, and 7 had the C/C genotype. In turn, the ratio in the control group was 117 G/G, 51 G/C, and 11 C/C. There were no significant differences between the groups.

CONCLUSION

Our data did not show an association between the polymorphism and the occurrence of POP.

摘要

目的

评估I型前胶原α2(α)基因的rs42524多态性作为巴西女性盆腔器官脱垂(POP)发生相关因素的情况。

方法

本研究纳入112例III期和IV期POP女性(病例组)以及180例0期和I期POP女性(对照组)。通过询问患者病史获取其他临床数据,并采集志愿者血液以提取基因组DNA。扩增包含rs42524多态性的该基因启动子区域,用MspA1I酶消化聚合酶链反应(PCR)产物,随后进行琼脂糖凝胶电泳分析,以区分G和C变体。

结果

共分析292例女性。病例组中,71例为G/G基因型,33例为G/C基因型,7例为C/C基因型。对照组中,相应比例分别为117例G/G、51例G/C和11例C/C。两组间无显著差异。

结论

我们的数据未显示该多态性与POP发生之间存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/576e/10418595/30925a82100b/10-1055-s-0038-1676599-i180229-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/576e/10418595/30925a82100b/10-1055-s-0038-1676599-i180229-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/576e/10418595/30925a82100b/10-1055-s-0038-1676599-i180229-1.jpg

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Neurosurg Rev. 2019 Jun;42(2):243-253. doi: 10.1007/s10143-017-0925-x. Epub 2017 Oct 31.
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The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women.胶原蛋白1A2基因(COL1A2)多态性变体在绝经后女性骨质减少和骨质疏松症发生发展中的重要性。
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Collagen Type I Alpha 2 (COL1A2) Polymorphism Contributes to Intracranial Aneurysm Susceptibility: A Meta-Analysis.
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Differential expression profiling of matrix metalloproteinases and tissue inhibitors of metalloproteinases in females with or without pelvic organ prolapse.有或无盆腔器官脱垂女性中基质金属蛋白酶及其组织抑制剂的差异表达谱分析。
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The polymorphisms of the MMP-1 and the MMP-3 genes and the risk of pelvic organ prolapse.基质金属蛋白酶-1和基质金属蛋白酶-3基因多态性与盆腔器官脱垂风险
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