Effects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors
Received 17 August 2009; received in revised form 2 September 2009; accepted 30 November 2009. published online 11 February 2010.
Abstract
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.
Declaration: The authors report no financial or commercial conflicts of interest.
aThe Center for Human Reproduction (CHR), 21 East 69th Street, New York, NY 10021, USA
bFoundation for Reproductive Medicine, New York, NY, USA
cDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA
dDepartment of Obstetrics and Gynecology, Vienna University School of Medicine, Vienna, Austria
eDepartments of Epidemiology and Social Medicine and Obstetrics, Gynecology and Women’s Health, Albert Einstein College of Medicine, Bronx, NY, USA
Corresponding author.
A graduate of Tel Aviv University School of Medicine, Israel, Norbert Gleicher, MD, FACOF, FACS, completed residency and fellowship at Mount Sinai Medical Center in New York, where he joined the faculty as Assistant Professor and Division Head. He then was recruited in 1981 as Department Chair at Mount Sinai Hospital and Professor at Rush Medical College in Chicago, where he founded The Center for Human Reproduction (CHR), initially in Chicago and later in New York City. He currently serves as Medical Director of CHR-NY and is a Visiting Professor at Yale University School of Medicine. Dr Gleicher has published hundreds of peer-reviewed papers, has edited a number of major text books, served as Editor-in-Chief for the American Journal of Reproductive Immunology and the Journal of Assisted Reproduction and Genetics and on the editorial boards of many other publications.