title: The role of genetic and autoimmune factors in premature ovarian failure.
abstract: OBJECTIVE
  To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF).
  
  
  METHODS
  In cross-sectional study, 78 women with POF were divided into 3 groups by the number of CGG repeats (less than 28, 28-36, more than 36) in any of the FMR1 gene alleles. We performed the detection of skewed X-chromosome inactivation, CGG repeats in the FMR1 gene, anti-ovarian antibodies (AOA) and sex hormones tests.
  
  
  RESULTS
  Compared to a higher or lower number of CGG repeats the 28-36 triple CGG counts are strongly associated with the AOA detection (RR = 19.23, 95% CI = 2.63-100.0). The women with autoimmune-driven POF have significantly higher anti-Mullerian hormone levels in comparison to women with non-autoimmune-driven POF.
  
  
  CONCLUSIONS
  The presence of AOA above 10 IU/mL is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with POF.
authors.affiliation: The Research Center for Obstetrics, Gynecology and Perinatology, the Ministry of Health of the Russian Federation, Moscow, Russian Federation.
authors.forename: Nigyar N
authors.initials: NN
authors.lastname: Shamilova
authors.forename: Larisa A
authors.initials: LA
authors.lastname: Marchenko
authors.forename: Nataliya V
authors.initials: NV
authors.lastname: Dolgushina
authors.forename: Dmitry V
authors.initials: DV
authors.lastname: Zaletaev
authors.forename: Gennady T
authors.initials: GT
authors.lastname: Sukhikh
mesh_terms: D000328:Adult; D000483:Alleles; D001323:Autoantibodies / Q000502:physiology; D015551:Autoimmunity / Q000502:physiology*; D003430:Cross-Sectional Studies; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics / Q000276:immunology / Q000473:pathology; D010053:Ovary / Q000166:cytology / Q000276:immunology / Q000473:pathology; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D012307:Risk Factors; D018911:Trinucleotide Repeats / Q000235:genetics / Q000502:physiology; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human