The FMR1 gene, infertility, and reproductive decision-making: a review.
The FMR1 gene, infertility, and reproductive decision-making: a review.
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FMR1基因，不育和生殖决策：评论。
DOI：
10.3389/fgene.2014.00195
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发表时间：
2014
影响因子：
3.7
通讯作者：
Johnson J
中科院分区：
文献类型：
--
作者：
Pastore LM;Johnson J
FMR1 与人类卵巢之间最强的关联是携带 CGG 重复序列（55-199 个 CGG）前突变水平的女性卵巢早衰 (POF) 的风险增加。 FMR1 基因的研究已扩展到女性妇产科环境中的其他相关终点，包括不孕症和卵巢激素。在回顾了近年来发生的命名变化后，本文回顾了将 FMR1 重复长度与生育力和卵巢激素（促卵泡激素和抗苗勒氏管激素作为临床环境中评估卵巢储备的主要方法）联系起来的证据。关于 FMR1 三核苷酸重复长度与不孕症之间的关联，文献并不一致。携带前突变的女性体内卵泡刺激素水平升高。然而，关于抗苗勒氏管激素与 CGG 重复长度之间关系的文献在设计上差异太大，无法做出总结性陈述。本文探讨了两种转基因小鼠模型（FXPM 130R 和 YAC90R）对卵巢终点相关发病机制理论的影响。鉴于当前针对育龄女性的筛查/测试建议以及诊所筛查方案的可变性，建议未来针对测试前和测试后遗传咨询需求进行研究。未来还需要对一系列 CGG 重复长度的卵巢健康测量进行研究，以便解释育龄妇女的 FMR1 测试结果；文献中的不一致使得向女性提供有关 FMR1 重复长度相关风险的建议变得非常具有挑战性。
The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure (POF) in women who carry the premutation level of CGG repeats (55–199 CGGs). Research on the FMR1 gene has extended to other endpoints of relevance in the OB/GYN setting for women, including infertility and ovarian hormones. After reviewing the nomenclature changes that have occurred in recent years, this article reviews the evidence linking the length of the FMR1 repeat length to fertility and ovarian hormones (follicle stimulating hormone and anti-mullerian hormone as the primary methods to assess ovarian reserve in clinical settings). The literature is inconsistent on the association between the FMR1 trinucleotide repeat length and infertility. Elevated levels of follicle stimulating hormone have been found in women who carry the premutation; however the literature on the relationship between anti-mullerian hormone and the CGG repeat length are too disparate in design to make a summary statement. This article considers the implications of two transgenic mouse models (FXPM 130R and YAC90R) for theories on pathogenesis related to ovarian endpoints. Given the current screening/testing recommendations for reproductive age females and the variability of screening protocols in clinics, future research is recommended on pretest and posttest genetic counseling needs. Future research is also needed on ovarian health measurements across a range of CGG repeat lengths in order to interpret FMR1 test results in reproductive age women; the inconsistencies in the literature make it quite challenging to advise women on their risks related to FMR1 repeat length.
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