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多态性以及基因和基因的缺失对女性不孕风险有强烈影响。

Polymorphism, along with Deletion of and Genes, Strongly Influences Female Infertility Risk.

作者信息

Casteleiro Alves Maria Manuel, Almeida Micaela, Oliani António Hélio, Breitenfeld Luiza, Ramalhinho Ana Cristina

机构信息

Health Sciences Research Centre (CICS), Faculty of Health Sciences, University of Beira Interior (UBI), 6201-506 Covilhã, Portugal.

Assisted Reproduction Laboratory of Academic Hospital of Cova da Beira (CHUCB), 6200-251 Covilhã, Portugal.

出版信息

Antioxidants (Basel). 2023 Apr 16;12(4):940. doi: 10.3390/antiox12040940.

DOI:10.3390/antiox12040940
PMID:37107315
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10135531/
Abstract

Oxidative stress has a fundamental role in the pathophysiology of various conditions, like infertility. This case-control study was performed to assess the potential role of , , and in modifying individual predisposition to female infertility. Genotyping of 201 women with established infertility and 161 fertile female controls was performed, and statistical associations were analyzed. For carriers of null genotype along with allele, there is a significant association with female infertility risk (OR 7.023; 95% CI (3.627-13.601; < 0.001), and, also for carriers of null genotype along with the genotype (OR 24.150; 95% CI (11.148-52.317; < 0.001). A positive association with female infertility risk for carriers of the allele in and null genotypes in (OR 11.979; 95% CI (4.570-31.400; < 0.001) or (OR 13.169; 95% CI (4.518-38.380; < 0.001) was found. When both are deleted, the risk of developing female infertility is significant, independently of the genotype; when all the presumed high-risk genotypes are present, we found a significant association with female infertility risk (OR 47,914; 95% CI (14,051-163,393; < 0.001).

摘要

氧化应激在包括不孕症在内的各种病症的病理生理学中起着重要作用。本病例对照研究旨在评估[具体基因名称1]、[具体基因名称2]和[具体基因名称3]在改变个体女性不孕易感性方面的潜在作用。对201名确诊不孕症的女性和161名有生育能力的女性对照进行基因分型,并分析统计关联。对于[具体基因名称1]无效基因型与[具体基因名称2]等位基因的携带者,与女性不孕风险存在显著关联(比值比7.023;95%置信区间(3.627 - 13.601);P < 0.001),并且,对于[具体基因名称1]无效基因型与[具体基因名称3]基因型的携带者也有显著关联(比值比24.150;95%置信区间(11.148 - 52.317);P < 0.001)。发现[具体基因名称2]中[具体等位基因名称]等位基因的携带者以及[具体基因名称3]中无效基因型的携带者与女性不孕风险呈正相关(比值比11.979;95%置信区间(4.570 - 31.400);P < 0.001)或(比值比13.169;95%置信区间(4.518 - 38.380);P < 0.001)。当两个[具体基因名称]都缺失时,无论[具体基因名称3]基因型如何,发生女性不孕的风险都显著;当所有假定的高风险基因型都存在时,我们发现与女性不孕风险存在显著关联(比值比47,914;95%置信区间(14,051 - 163,393);P < 0.001)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b5/10135531/2808fd5e97a6/antioxidants-12-00940-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b5/10135531/2808fd5e97a6/antioxidants-12-00940-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/22b5/10135531/2808fd5e97a6/antioxidants-12-00940-g001.jpg

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