Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City

J Genet. 2010 Dec;89(4):417-23. doi: 10.1007/s12041-010-0060-8.


Self-reported race/ethnicity is frequently used in epidemiological studies to assess an individual's background origin. However, in admixed populations such as Hispanic, self-reported race/ethnicity may not accurately represent them genetically because they are admixed with European, African and Native American ancestry. We estimated the proportions of genetic admixture in an ethnically diverse population of 396 mothers and 188 of their children with 35 ancestry informative markers (AIMs) using the STRUCTURE version 2.2 program. The majority of the markers showed significant deviation from Hardy-Weinberg equilibrium in our study population. In mothers self-identified as Black and White, the imputed ancestry proportions were 77.6% African and 75.1% European respectively, while the racial composition among self-identified Hispanics was 29.2% European, 26.0% African, and 44.8% Native American. We also investigated the utility of AIMs by showing the improved fitness of models in paraoxanase-1 genotype-phenotype associations after incorporating AIMs; however, the improvement was moderate at best. In summary, a minimal set of 35 AIMs is sufficient to detect population stratification and estimate the proportion of individual genetic admixture; however, the utility of these markers remains questionable.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • African Continental Ancestry Group / ethnology
  • African Continental Ancestry Group / genetics
  • Child
  • Continental Population Groups / ethnology
  • Continental Population Groups / genetics*
  • Ethnic Groups / ethnology
  • Ethnic Groups / genetics*
  • European Continental Ancestry Group / ethnology
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Association Studies
  • Genetic Markers
  • Hispanic Americans / ethnology
  • Hispanic Americans / genetics
  • Humans
  • Indians, North American / ethnology
  • Indians, North American / genetics
  • Mothers / statistics & numerical data
  • New York City / ethnology
  • Population Groups / ethnology
  • Population Groups / genetics*
  • Self Report
  • United States / ethnology


  • Genetic Markers