The Center for Human Reproduction, 21 East 69th Street, New York, NY 10021, USA.
Reprod Biomed Online. 2010 Apr;20(4):485-91. doi: 10.1016/j.rbmo.2009.12.017. Epub 2009 Dec 21.
This cross-sectional cohort study investigated 385 females (344 infertile women and 41 oocyte donors), the numbers of CGG repeats on the FMR1 gene and differences between races/ethnicities. Traditional definitions of neuropsychiatric risks are classified as common, intermediate, premutation and full mutation ranges. Normal CGG count range was here, however, defined by box and whisker plot as 26-32 repeats (median 30). Distribution of abnormal outliers in CGG counts from this normal range was then compared between women of Caucasian, African and Asian descent. African and Asian women demonstrated a higher prevalence of two normal count alleles (65%) than Caucasians (54.3%; P=0.03). Caucasians demonstrated the highest rate of allele abnormalities (43.3%) and were the only race/ethnicity also demonstrating abnormalities in both FMR1 alleles. Asian women demonstrated significantly fewer low outlier counts than Caucasians (P=0.002) and Africans (P=0.03). This study, thus, suggests significant racial/ethnic differences in triple CGG counts on the FMR1 gene between races/ethnicities. Since CGG counts on FMR1 are associated with ovarian reserve, these findings may reflect potential differences between races/ethnicities in ovarian function and female fertility reported in the literature.
本横断面队列研究调查了 385 名女性（344 名不孕女性和 41 名卵母细胞捐赠者），FMR1 基因上的 CGG 重复次数以及不同种族/民族之间的差异。传统的神经精神风险定义分为常见、中间、前突变和全突变范围。正常的 CGG 计数范围在此处通过箱线图定义为 26-32 次重复（中位数为 30）。然后比较了来自正常范围的 CGG 计数异常外显子在白种人、非裔和亚洲血统女性中的分布。非洲裔和亚洲裔女性的两个正常计数等位基因（65%）的患病率高于白种人（54.3%；P=0.03）。白种人表现出最高的等位基因异常率（43.3%），也是唯一表现出 FMR1 两个等位基因异常的种族/民族。亚洲女性的低外显子计数明显少于白种人（P=0.002）和非洲人（P=0.03）。因此，这项研究表明，不同种族/民族之间 FMR1 基因上的三 CGG 计数存在显著的种族/民族差异。由于 FMR1 上的 CGG 计数与卵巢储备有关，这些发现可能反映了文献中报道的不同种族/民族之间卵巢功能和女性生育能力的潜在差异。
