Distribution of the FMR1 gene in females by race/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study)

Lisa M. Pastore, Steven L. Young, Ani Manichaikul, Valerie L. Baker, Xin Q. Wang, Joel S. Finkelstein

Research output: Contribution to journalArticle

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Abstract

Objective To study whether reported, but inconsistent, associations between the FMR1 CGG repeat lengths in the intermediate, high normal, or low normal range differentiate women diagnosed with diminished ovarian reserve (DOR) from population controls and whether associations vary by race/ethnic group. Design Case-control study. Setting Academic and private fertility clinics. Patient(s) DOR cases (n = 129; 95 Whites, 22 Asian, 12 other) from five U.S. fertility clinics were clinically diagnosed, with regular menses and no fragile X syndrome family history. Normal fertility controls (n = 803; 386 Whites, 219 African-Americans, 102 Japanese, 96 Chinese) from the United States–based SWAN Study had one or more menstrual period in the 3 months pre-enrollment, one or more pregnancy, no history of infertility or hormone therapy, and menopause ≥46 years. Previously, the SWAN Chinese and Japanese groups had similar FMR1 CGG repeat lengths, thus they were combined. Intervention(s) None. Main Outcome Measure(s) FMR1 CGG repeat lengths. Result(s) Median CGG repeats were nearly identical by case/control group. DOR cases had fewer CGG repeats in the shorter FMR1 allele than controls among Whites, but this was not significant among Asians. White cases had fewer CGG repeats in the shorter allele than Asian cases. No significant differences were found in the high normal/intermediate range between cases and controls or by race/ethnic group within cases in the longer allele. Conclusion(s) This study refutes prior reports of an association between DOR and high normal/intermediate repeats and confirms an association between DOR and low normal repeats in Whites.

LanguageEnglish (US)
Pages205-211.e1
JournalFertility and sterility
Volume107
Issue number1
DOIs
StatePublished - Jan 1 2017

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Fertility
Genes
Alleles
Ethnic Groups
Reference Values
Fragile X Syndrome
Reproductive History
Population Control
Menstruation
Menopause
Contraception
African Americans
Infertility
Case-Control Studies
Outcome Assessment (Health Care)
Ovarian Reserve
Hormones
Control Groups
Therapeutics

Keywords

  • Asian Continental Ancestry Group
  • Diminished ovarian reserve
  • European Continental Ancestry Group
  • female
  • FMR1
  • infertility
  • ovarian reserve
  • race/ethnicity

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

Distribution of the FMR1 gene in females by race/ethnicity : women with diminished ovarian reserve versus women with normal fertility (SWAN study). / Pastore, Lisa M.; Young, Steven L.; Manichaikul, Ani; Baker, Valerie L.; Wang, Xin Q.; Finkelstein, Joel S.

In: Fertility and sterility, Vol. 107, No. 1, 01.01.2017, p. 205-211.e1.

Research output: Contribution to journalArticle

Pastore, Lisa M. ; Young, Steven L. ; Manichaikul, Ani ; Baker, Valerie L. ; Wang, Xin Q. ; Finkelstein, Joel S./ Distribution of the FMR1 gene in females by race/ethnicity : women with diminished ovarian reserve versus women with normal fertility (SWAN study). In: Fertility and sterility. 2017 ; Vol. 107, No. 1. pp. 205-211.e1
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abstract = "Objective To study whether reported, but inconsistent, associations between the FMR1 CGG repeat lengths in the intermediate, high normal, or low normal range differentiate women diagnosed with diminished ovarian reserve (DOR) from population controls and whether associations vary by race/ethnic group. Design Case-control study. Setting Academic and private fertility clinics. Patient(s) DOR cases (n = 129; 95 Whites, 22 Asian, 12 other) from five U.S. fertility clinics were clinically diagnosed, with regular menses and no fragile X syndrome family history. Normal fertility controls (n = 803; 386 Whites, 219 African-Americans, 102 Japanese, 96 Chinese) from the United States–based SWAN Study had one or more menstrual period in the 3 months pre-enrollment, one or more pregnancy, no history of infertility or hormone therapy, and menopause ≥46 years. Previously, the SWAN Chinese and Japanese groups had similar FMR1 CGG repeat lengths, thus they were combined. Intervention(s) None. Main Outcome Measure(s) FMR1 CGG repeat lengths. Result(s) Median CGG repeats were nearly identical by case/control group. DOR cases had fewer CGG repeats in the shorter FMR1 allele than controls among Whites, but this was not significant among Asians. White cases had fewer CGG repeats in the shorter allele than Asian cases. No significant differences were found in the high normal/intermediate range between cases and controls or by race/ethnic group within cases in the longer allele. Conclusion(s) This study refutes prior reports of an association between DOR and high normal/intermediate repeats and confirms an association between DOR and low normal repeats in Whites.",
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