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A study on the role of FMR1 CGG trinucleotide repeats in Jordanian poor ovarian responders
Gene ( IF 2.6 ) Pub Date : 2020-09-30 , DOI: 10.1016/j.gene.2020.145174
Osamah Batiha , Sherin T Shaaban , Mohammad Al-Smadi , Yousef Jarun , Ahmad Maswadeh , Nour Alhoda Alahmad , Mohammad M Al-Talib

The expansion of trinucleotide CGG repeats in the promoter of fragile X mental retardation 1 (FMR1) gene is associated with fragile X and fragile X associated tremor/ataxia syndromes. While the expansion of CGG repeats has been associated with such neuro/psychiatric diseases, the contraction of CGG repeats has been recently suggested as an indication of ovarian dysfunction. This study aimed to evaluate a possible association of the short CGG repeats with poor ovarian responders (POR) and to test for a possible correlation between the CGG size and different known markers of the ovarian reserve, namely FSH, AMH, and the number of retrieved oocytes from Jordanian females. We found a significant difference between the CGG median allele size between the cases and the controls (p < 0.001), where poor ovarian responders had shorter CGG repeats compared to the healthy controls. Also, females with alleles <26 had twice the odds to be presented in the POR compared to the controls. However, we did not find a significant correlation between CGG sizes and the markers of ovarian reserve. We conclude that although low CGG repeats appear to be linked to POR, the clinical utility of FMR1 for predicting ovarian response needs further investigation.



中文翻译:

FMR1 CGG三核苷酸重复序列在约旦卵巢不良反应者中的作用研究

三核苷酸CGG的扩展在脆弱的X智力低下1(FMR1基因与脆性X和脆性X相关的震颤/共济失调综合征相关。尽管CGG重复序列的扩增与此类神经/精神疾病有关,但最近有人提出CGG重复序列的收缩是卵巢功能障碍的指征。这项研究旨在评估短CGG重复序列与卵巢反应不良(POR)的可能关联,并测试CGG大小与卵巢储备的不同已知标志物(FSH,AMH和回收的数目)之间的可能相关性。约旦女性的卵母细胞。我们发现病例与对照之间的CGG中位等位基因大小之间存在显着差异(p <0.001),其中卵巢反应较差的人与健康对照相比,其CGG重复数更短。另外,等位基因的女性< 与对照组相比,有26人的POR几率要高出一倍。但是,我们没有发现CGG大小与卵巢储备标记之间有显着相关性。我们得出的结论是,尽管低CGG重复序列似乎与POR相关,但其临床应用用于预测卵巢反应的FMR1需要进一步研究。

更新日期:2020-10-08
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