Grasmane Adele, Rots Dmitrijs, Vitina Zane, Magomedova Valerija, Gailite Linda
Riga Stradiņš University, Riga, Latvia.
Clinic EGV, SIA, Riga, Latvia.
Arch Med Sci. 2019 May 15;17(5):1303-1307. doi: 10.5114/aoms.2019.85154. eCollection 2021.
The gene plays an important role in brain development and in the regulation of ovarian function. The gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. fragile X syndrome, premature ovarian failure, etc. Repeats ranging < 55 CGG are considered normal, however recent studies suggest that high-normal (35-54 CGG) and low-normal (< 26 CGG) alleles may also have an impact on female reproductive function.
We have performed a case-control study to assess the impact of gene CGG repeats on female infertility. The study comprised 161 women with primary and secondary idiopathic infertility and 12 females with diminished ovarian reserve. The control group consisted of 129 healthy women with children. The gene trinucleotide CGG repeat variation was detected using a triplet repeat primed polymerase chain reaction with capillary electrophoresis.
The analysis of CGG repeats revealed that high-normal alleles are statistically significantly more common in the secondary infertility group than in controls (12% vs. 4.3%, = 0.03, OR = 3.1, 95% CI: 1.1-8.3). The distribution of high-normal alleles and genotypes did not differ between patients with primary infertility and controls ( > 0.05). In addition, the analysis of low-normal allele and genotype frequencies did not present a difference between primary, secondary infertility and the control group ( > 0.05).
In our study, the gene high-normal alleles were associated with secondary infertility. However, to address the controversies related to the role of genes in the development of diminished ovarian reserve, further studies on the subject are required.
该基因在大脑发育和卵巢功能调节中起着重要作用。该基因包含CGG重复变异，重复序列的扩增与多种表型相关，如脆性X综合征、卵巢早衰等。小于55个CGG的重复序列被认为是正常的，然而最近的研究表明，高正常（35 - 54个CGG）和低正常（小于26个CGG）等位基因也可能对女性生殖功能产生影响。
我们进行了一项病例对照研究，以评估该基因CGG重复对女性不孕的影响。该研究包括161例原发性和继发性特发性不孕的女性以及12例卵巢储备功能减退的女性。对照组由129名有子女的健康女性组成。使用三联体重复引物聚合酶链反应和毛细管电泳检测该基因三核苷酸CGG重复变异。
CGG重复序列分析显示，继发性不孕组中高正常等位基因在统计学上显著比对照组更常见（12%对4.3%，P = 0.03，OR = 3.1，95%CI：1.1 - 8.3）。原发性不孕患者和对照组之间高正常等位基因和基因型的分布没有差异（P>0.05）。此外，低正常等位基因和基因型频率分析在原发性、继发性不孕组和对照组之间没有呈现差异（P>0.05）。
在我们的研究中，该基因高正常等位基因与继发性与继发性不孕相关。然而，为了解决与该基因在卵巢储备功能减退发展中的作用相关的争议，需要对该主题进行进一步研究。
