载脂蛋白E等位基因与精液质量相关吗?

D. Paoli, S. Zedda, D. Grassetti, M. Gallo, R. M. Corbo, F. Lombardo, A. Lenzi, L. Gandini
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引用次数: 1

摘要

载脂蛋白在脂蛋白代谢调节中具有独特的作用,帮助脂质转运并作为参与代谢的酶的辅助因子。APOE*2、APOE*3和APOE*4三个共显性等位基因编码apoE2、apoE3和apoE4三个蛋白亚型。APOE*3是迄今为止调查的所有人群中最常见的,从50%到90%不等。一些研究试图通过评估这三种等位基因的频率和存活的原因来解决遗传“困境”。遗传漂变、迁移或自然选择可以解释APOE基因在世界范围内的分布。如果APOE*4是祖先的等位基因,那么APOE*3一定提供了相当大的选择优势,可能在繁殖期间产生了积极的影响。鉴于此,有必要了解APOE基因多态性是否会影响生殖能力。这方面的研究很少,一般认为APOE多态性与生育效率有关。我们的研究目的是寻找人类APOE多态性与精液质量之间的相关性,以确定APOE基因型是否对精子发生有任何明显的影响。总之,我们的数据表明APOE多态性与精液质量无关,因为它在正常和受损或缺失精子发生中都以相似的程度存在。这再次表明,使用子女数目作为生育率指数并不能表明男性的真正生殖能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Are apolipoprotein E alleles correlated with semen quality?

Apolipoproteins have a unique role in lipoprotein metabolism regulation, aiding lipid transport and acting as a cofactor of the enzymes involved in metabolism. There are three co-dominant alleles, APOE*2, APOE*3 and APOE*4, which encode three protein isoforms, apoE2, apoE3 and apoE4. APOE*3 is the most frequent in all populations thus far investigated, ranging from 50 to 90%. Some studies have tried to resolve a genetic ‘dilemma’ by evaluating the cause of the frequency and survival of the three alleles. Genetic drift, migration or natural selection could explain the current distribution of APOE gene frequencies worldwide. If APOE*4 is the ancestral allele, APOE*3 must have offered a considerable selective advantage, perhaps consisting of a positive effect during the reproductive period. Given this, there is a need to understand if APOE gene polymorphism might affect reproductive capacity. Few studies have been conducted in this area, and they generally correlate APOE polymorphism with reproductive efficiency in terms of number of children. The aim of our study was to look for correlations between APOE polymorphism in humans and semen quality, to establish if APOE genotypes have any demonstrable effect on spermatogenesis. In conclusion, our data show that APOE polymorphism is not associated with semen quality, as it is present to a similar extent in both normal and impaired or absent spermatogenesis. This demonstrates once again that the use of number of children as an index of fertility is not indicative of real male reproductive capacity.

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