Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.
Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.
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DOI：
10.1097/gme.0000000000000139
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发表时间：
2014-07
期刊：
影响因子：
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通讯作者：
Warburton D
中科院分区：
文献类型：
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作者：
Kline JK;Kinney AM;Levin B;Brown SA;Hadd AG;Warburton D
脆性X智力低下（FMR 1）基因座的前突变和中间CGG重复长度与卵巢早衰相关。我们在一个有生育能力的妇女样本中测试了中间长度是否与卵巢年龄指标相关。我们的卵巢年龄的主要指标是抗苗勒管激素（AMH）和卵泡刺激素（FSH）。横断面样本包括258例核型自然流产妇女（140例三体，118例染色体正常或三体以外的异常）和325例近期活产妇女（LB）。我们分析了来自总样本的数据和仅来自LB的数据。我们定义CGG重复长度的长度，连续和分类，在较长的等位基因。CGG重复序列长度与两种激素水平均无显著相关性。35-54 CGG的重复长度与30 CGG的模态类别相比，与AMH中位数增加约7%和FSH中位数增加3%相关。当分析仅限于LB时，结果不变。使用切割点来定义卵巢年龄较大的激素水平分析显示与重复长度无关。在10名重复长度为35-54 CGG的女性中分析AGG序列，不间断的CGG长度在具有“老”与“年轻”卵巢年龄的激素指标的女性中并不显著更长。我们的数据不支持中间CGG重复长度与AMH或FSH水平的育龄妇女之间的关联。
Premutation and intermediate CGG repeat length at the Fragile X Mental Retardation (FMR1) locus has 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 anti-Müllerian hormone (AMH) and follicle stimulating hormone (FSH). The cross-sectional sample comprised 258 women with karyotyped spontaneous abortions (140 trisomic, 118 chromosomally normal or 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. CGG repeat length was not significantly associated with either hormone measure. A repeat length of 35–54 CGG, versus the modal category of 30 CGG, was associated with approximately a 7% increase in median AMH and a 3% increase in median FSH. 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 ten women with repeat lengths of 35–54 CGG analyzed for AGG sequences, the uninterrupted CGG length was not significantly longer among women with hormonal indicators of “old” versus “young” ovarian age. Our data do not support an association of intermediate CGG repeat length with levels of AMH or FSH among fertile women.