Document Detail

FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance.
MedLine Citation:
PMID:  21179569     Owner:  NLM     Status:  MEDLINE    
The FMR1 gene partially appears to control ovarian reserve, with a specific ovarian sub-genotype statistically associated with a polycystic ovary (PCO)- like phenotype. Some forms of PCO have been associated with autoimmunity. We, therefore, investigated in multiple regression analyses associations of ovary-specific FMR1 genotypes with autoimmunity and pregnancy chances (with in vitro fertilization, IVF) in 339 consecutive infertile women (455 IVF cycles), 75 with PCO-like phenotype, adjusted for age, race/ethnicity, medication dosage and number of oocytes retrieved. Patients included 183 (54.0%) with normal (norm) and 156 (46%) with heterozygous (het) FMR1 genotypes; 133 (39.2%) demonstrated laboratory evidence of autoimmunity: 51.1% of het-norm/low, 38.3% of norm and 24.2% het-norm/high genotype and sub-genotypes demonstrated autoimmunity (p=0.003). Prevalence of autoimmunity increased further in PCO-like phenotype patients with het-norm/low genotype (83.3%), remained unchanged with norm (34.0%) and decreased in het-norm/high women (10.0%; P<0.0001). Pregnancy rates were significantly higher with norm (38.6%) than het-norm/low (22.2%, p=0.001). FMR1 sub-genotype het-norm/low is strongly associated with autoimmunity and decreased pregnancy chances in IVF, reaffirming the importance of the distal long arm of the X chromosome (FMR1 maps at Xq27.3) for autoimmunity, ovarian function and, likely, pregnancy chance with IVF.
Norbert Gleicher; Andrea Weghofer; Irene H Lee; David H Barad
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-12-16
Journal Detail:
Title:  PloS one     Volume:  5     ISSN:  1932-6203     ISO Abbreviation:  PLoS ONE     Publication Date:  2010  
Date Detail:
Created Date:  2010-12-23     Completed Date:  2011-07-05     Revised Date:  2013-07-03    
Medline Journal Info:
Nlm Unique ID:  101285081     Medline TA:  PLoS One     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e15303     Citation Subset:  IM    
Center for Human Reproduction (CHR) and Foundation for Reproductive Medicine, New York, New York, United States of America.
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MeSH Terms
Autoimmunity / genetics
Chromosomes, Human, X / genetics
Fertilization in Vitro / methods
Follicle Stimulating Hormone / metabolism
Fragile X Mental Retardation Protein / genetics*
Polycystic Ovary Syndrome / genetics*
Pregnancy Outcome
Pregnancy Rate
Reg. No./Substance:
0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein; 9002-68-0/Follicle Stimulating Hormone

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