Genotypically determined ancestry across an infertile population: ovarian reserve and response parameters are not influenced by continental origin

Fertil Steril. 2016 Aug;106(2):475-80. doi: 10.1016/j.fertnstert.2016.03.052. Epub 2016 Apr 14.


Objective: To evaluate the relationship between genetic ethnicity using ancestry informative markers (AIMs) and ovarian reserve and response parameters as evidenced by FSH, antimüllerian hormone (AMH), basal antral follicle count (BAFC), and total oocyte yield in IVF.

Design: Retrospective.

Setting: Academic medical center.

Patients(s): A total of 2,508 infertile patients undergoing IVF at a single center.

Intervention(s): Patients were genotyped for 32 AIMs and analyzed for differences in allele frequencies. A validated Bayesian clustering algorithm was then used to assign individuals into one of four ethnic populations: European, African, Central/South Asian, or East Asian.

Main outcome measure(s): FSH, AMH, BAFC, and oocyte yield variation.

Result(s): After controlling for age and body mass index, genetic ethnicity had no impact on AMH, BAFC, and oocyte yield. FSH was found to be lower in patients of Central/South Asian ancestry (6.46 ng/mL vs. 6.97 ng/mL); however, the absolute difference is of little clinical significance. Subgroup analyses of 1,327 patients restricted to those with limited genetic admixture as determined by AIMs indicated that FSH, AMH, BAFC, and oocyte yield were equivalent.

Conclusion(s): When determining ethnicity using AIMs, ethnic background does not have an impact on markers of ovarian reserve or ovarian response. Specifically, no differences were found in AMH, BAFC, or oocyte yield relative to genotypic ethnicity. Using AIMs rather than self-reported ethnicity allows for elimination of reporting biases and nonreporting of ethnicity, which can confound data. Based upon these data, specific recommendations for ovarian reserve testing should thus be made based on other factors besides ethnic background.

Keywords: Ovarian reserve; ancestry informative markers; ethnicity.

Publication types

  • Comparative Study

MeSH terms

  • Academic Medical Centers
  • Anti-Mullerian Hormone / blood
  • Bayes Theorem
  • Biomarkers
  • Female
  • Fertilization in Vitro
  • Follicle Stimulating Hormone, Human / blood
  • Gene Frequency
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Infertility / diagnosis
  • Infertility / ethnology*
  • Infertility / genetics*
  • Infertility / physiopathology
  • Linear Models
  • New Jersey / epidemiology
  • Oocyte Retrieval
  • Ovarian Follicle / diagnostic imaging
  • Ovarian Reserve / genetics*
  • Pedigree
  • Phenotype
  • Racial Groups / genetics*
  • Retrospective Studies
  • Risk Factors


  • Biomarkers
  • Follicle Stimulating Hormone, Human
  • Genetic Markers
  • Anti-Mullerian Hormone