脆性X智力低下基因1（FMR1）位点的中等长度CGG重复序列与卵巢年龄的激素指标无关。
Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.
作者信息
Kline Jennie K, Kinney Ann M, Levin Bruce, Brown Stephen A, Hadd Andrew G, Warburton Dorothy
机构信息
From the 1Imprints Center, New York State Psychiatric Institute, New York, NY; 2Department of Epidemiology, 3Gertrude H. Sergievsky Center, and 4Department of Biostatistics, Columbia University, New York, NY; 5Department of Obstetrics, Gynecology, and Reproductive Science, The University of Vermont, Burlington, VT; 6Diagnostic Research and Technology Development, Asuragen Inc, Austin, TX; and 7Departments of Genetics and Development and Pediatrics, Columbia University, New York, NY.
出版信息
Menopause. 2014 Jul;21(7):740-8. doi: 10.1097/GME.0000000000000139.
OBJECTIVE
Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure. We tested whether intermediate length is associated with indicators of ovarian age in a sample of fertile women. Our primary measures of ovarian age were antimüllerian hormone (AMH) and follicle-stimulating hormone (FSH) levels.
METHODS
The cross-sectional sample comprised 258 women with karyotyped spontaneous abortions (140 trisomic spontaneous abortions and 118 chromosomally normal spontaneous abortions or spontaneous abortions with anomalies other than trisomy) and 325 women with recent live births (LBs). We analyzed data from the total sample and data from LBs only. We defined CGG repeat length by the length (both continuous and categorical) on the longer allele.
RESULTS
CGG repeat length was not significantly associated with either hormone measure. A repeat length of 35 to 54 CGG, versus the modal category of 30 CGG, was associated with an approximately 7% increase in median AMH level and a 3% increase in median FSH level. Results were unaltered when analyses were limited to LBs. Analyses of hormone levels using cutpoints to define older ovarian age showed no associations with repeat length. Among 10 women with repeat lengths of 35 to 54 CGG analyzed for AGG sequences, the uninterrupted CGG length was not significantly longer among women with hormonal indicators of "old" versus "young" ovarian age.
CONCLUSIONS
Our data do not support an association between intermediate CGG repeat length and levels of AMH or FSH among fertile women.
目的
脆性X智力低下1（FMR1）基因座的前突变和中等长度的CGG重复序列与卵巢早衰有关。我们在一组有生育能力的女性样本中测试了中等长度的CGG重复序列是否与卵巢年龄指标相关。我们评估卵巢年龄的主要指标是抗苗勒管激素（AMH）和促卵泡生成素（FSH）水平。
方法
横断面样本包括258例有核型分析的自然流产女性（140例三体性自然流产和118例染色体正常的自然流产或除三体性以外有异常的自然流产）以及325例近期有活产（LB）的女性。我们分析了总样本的数据以及仅活产女性的数据。我们根据较长等位基因上的长度（连续和分类）来定义CGG重复序列长度。
结果
CGG重复序列长度与这两种激素指标均无显著相关性。与模式类别30个CGG相比，35至54个CGG的重复序列长度与AMH中位数水平增加约7%以及FSH中位数水平增加3%相关。当分析仅限于活产女性时，结果未改变。使用切点定义卵巢年龄较大时对激素水平进行分析，结果显示与重复序列长度无关联。在10例重复序列长度为35至54个CGG且分析了AGG序列的女性中，卵巢年龄“老”与“年轻”的激素指标女性之间，不间断的CGG长度并无显著差异。
结论
我们的数据不支持有生育能力的女性中中等长度的CGG重复序列与AMH或FSH水平之间存在关联。
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