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.
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