title: Correlation of normal-range FMR1 repeat length or genotypes and reproductive parameters.
abstract: OBJECTIVE
  This study aims to ascertain whether the length of normal-ranged CGG repeats on the FMR1 gene correlates with abnormal reproductive parameters.
  
  
  METHODS
  We performed a retrospective, cross-sectional study of all FMR1 carrier screening performed as part of routine care at a large university-based fertility center from January 2011 to March 2014. Correlations were performed between normal-range FMR1 length and baseline serum anti-Müllerian hormone (AMH), cycle day 3 follicle stimulating hormone (FSH), ovarian volumes (OV), antral follicle counts (AFC), and incidence of diminished ovarian reserve (DOR), while controlling for the effect of age.
  
  
  RESULTS
  Six hundred three FMR1 screening results were collected. One subject was found to be a pre-mutation carrier and was excluded from the study. Baseline serum AMH, cycle day 3 FSH, OV, and AFC data were collected for the 602 subjects with normal-ranged CGG repeats. No significant difference in median age was noted amongst any of the FMR1 repeat genotypes. No significant correlation or association was found between any allele length or genotype, with any of the reproductive parameters or with incidence of DOR at any age (p > 0.05). However, subjects who were less than 35 years old with low/low genotype were significantly more likely to have below average AMH levels compared to those with normal/normal genotype (RR 3.82; 95 % CI 1.38-10.56).
  
  
  CONCLUSIONS
  This large study did not demonstrate any substantial association between normal-range FMR1 repeat lengths and reproductive parameters.
authors.affiliation: Division of Reproductive Endocrinology and Infertility, University of Connecticut School of Medicine, 2 Batterson Park Rd, Farmington, CT, 06032, USA.
authors.forename: Bat-Sheva L
authors.initials: BS
authors.lastname: Maslow
authors.affiliation: Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH, 45229, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Davis
authors.affiliation: Division of Reproductive Endocrinology and Infertility, University of Connecticut School of Medicine, 2 Batterson Park Rd, Farmington, CT, 06032, USA.
authors.forename: Lawrence
authors.initials: L
authors.lastname: Engmann
authors.affiliation: Division of Reproductive Endocrinology and Infertility, University of Connecticut School of Medicine, 2 Batterson Park Rd, Farmington, CT, 06032, USA.
authors.forename: John C
authors.initials: JC
authors.lastname: Nulsen
authors.affiliation: Division of Reproductive Endocrinology and Infertility, University of Connecticut School of Medicine, 2 Batterson Park Rd, Farmington, CT, 06032, USA. benadiva@uchc.edu.
authors.forename: Claudio A
authors.initials: CA
authors.lastname: Benadiva
mesh_terms: D000328:Adult; D000367:Age Factors; D000483:Alleles; D054304:Anti-Mullerian Hormone / Q000097:blood; D005260:Female; D005298:Fertility; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D065851:Ovarian Reserve / Q000235:genetics*; D010053:Ovary / Q000254:growth & development / Q000473:pathology; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Diminished ovarian reserve; FMR1; Fragile X