title: Correlation of triple repeats on the FMR1 (fragile X) gene to ovarian reserve: a new infertility test?
abstract: OBJECTIVE
  To determine to what degree the number of triple Cytosine/Guanine/Guanine (CGG) repeats on the FMR1 (fragile X) gene correlate with specific ovarian reserve parameters, and potentially facilitate infertility diagnosis.
  
  
  METHODS
  Retrospective cohort study.
  
  
  METHODS
  Academically affiliated, private infertility center in New York City.
  
  
  METHODS
  One hundred fifty-eight consecutive women, presenting to an infertility center.
  
  
  METHODS
  Triple CGG repeat counts on the FMR1 gene were correlated with baseline follicle stimulating hormone (FSH) and anti-Mullerian hormone (AMH), and compared to the distribution reported in the literature for general populations.
  
  
  METHODS
  Distribution of CGG counts in infertile vs. general populations and correlation between CGG counts and ovarian reserve parameters.
  
  
  RESULTS
  Infertile women demonstrated in both FMR1 alleles a mild shift toward higher CGG counts. In the investigated range up to 55 CGG repeats, counts inversely correlated with AMH (R (2)=0.21; p<0.001), though not with FSH, attributable to women <38 years (R (2)=0.26; p<0.001). Up to age 40, women with <35 triple repeats demonstrated higher AMH levels than those with 35-50 repeats [F (1, 87) = 5.3, p=0.025]. Counts between 35 and 50 repeats correlated inversely to AMH (R (2)=0.41; p<0.013).
  
  
  CONCLUSIONS
  Premature ovarian senescence and infertility in ranges up to 55 triple CGG repeats are associated with increasing triple CGG numbers on the FMR1 gene. The number of CGG repeats on the FMR1 gene appears to represent a potentially useful new test in diagnosing risk toward diminished ovarian reserve and female infertility.
authors.affiliation: The Center for Human Reproduction, 21 East 69th Street, New York, NY 10021, USA. ngleicher@thechr.com
authors.forename: Norbert
authors.initials: N
authors.lastname: Gleicher
authors.forename: Andrea
authors.initials: A
authors.lastname: Weghofer
authors.forename: Kutluk
authors.initials: K
authors.lastname: Oktay
authors.forename: David H
authors.initials: DH
authors.lastname: Barad
mesh_terms: D000328:Adult; D000367:Age Factors; D054304:Anti-Mullerian Hormone / Q000097:blood; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000097:blood / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D012189:Retrospective Studies; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human