title: Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.
abstract: OBJECTIVE
  Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure. We tested whether intermediate length is associated with indicators of ovarian age in a sample of fertile women. Our primary measures of ovarian age were antimüllerian hormone (AMH) and follicle-stimulating hormone (FSH) levels.
  
  
  METHODS
  The cross-sectional sample comprised 258 women with karyotyped spontaneous abortions (140 trisomic spontaneous abortions and 118 chromosomally normal spontaneous abortions or spontaneous abortions with anomalies other than trisomy) and 325 women with recent live births (LBs). We analyzed data from the total sample and data from LBs only. We defined CGG repeat length by the length (both continuous and categorical) on the longer allele.
  
  
  RESULTS
  CGG repeat length was not significantly associated with either hormone measure. A repeat length of 35 to 54 CGG, versus the modal category of 30 CGG, was associated with an approximately 7% increase in median AMH level and a 3% increase in median FSH level. Results were unaltered when analyses were limited to LBs. Analyses of hormone levels using cutpoints to define older ovarian age showed no associations with repeat length. Among 10 women with repeat lengths of 35 to 54 CGG analyzed for AGG sequences, the uninterrupted CGG length was not significantly longer among women with hormonal indicators of "old" versus "young" ovarian age.
  
  
  CONCLUSIONS
  Our data do not support an association between intermediate CGG repeat length and levels of AMH or FSH among fertile women.
authors.affiliation: From the 1Imprints Center, New York State Psychiatric Institute, New York, NY; 2Department of Epidemiology, 3Gertrude H. Sergievsky Center, and 4Department of Biostatistics, Columbia University, New York, NY; 5Department of Obstetrics, Gynecology, and Reproductive Science, The University of Vermont, Burlington, VT; 6Diagnostic Research and Technology Development, Asuragen Inc, Austin, TX; and 7Departments of Genetics and Development and Pediatrics, Columbia University, New York, NY.
authors.forename: Jennie K
authors.initials: JK
authors.lastname: Kline
authors.forename: Ann M
authors.initials: AM
authors.lastname: Kinney
authors.forename: Bruce
authors.initials: B
authors.lastname: Levin
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Brown
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Hadd
authors.forename: Dorothy
authors.initials: D
authors.lastname: Warburton
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D000483:Alleles; D054304:Anti-Mullerian Hormone / Q000097:blood; D002874:Chromosome Mapping / Q000379:methods; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D014314:Trisomy / Q000235:genetics; D055815:Young Adult
chemical_list: D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human