Inference of unexpected genetic relatedness among individuals in HapMap Phase III

Am J Hum Genet. 2010 Oct 8;87(4):457-64. doi: 10.1016/j.ajhg.2010.08.014.


The International Haplotype Map Project (HapMap) has provided an essential database for studies of human population genetics and genome-wide association. Phases I and II of the HapMap project generated genotype data across ∼3 million SNP loci in 270 individuals representing four populations. Phase III provides dense genotype data on ∼1.5 million SNPs, generated by Illumina and Affymetrix platforms in a larger set of individuals. Release 3 of phase III of the HapMap contains 1397 individuals from 11 populations, including 250 of the original 270 phase I and phase II individuals and 1147 additional individuals. Although some known relationships among the phase III individuals have been described in the data release, the genotype data that are currently available provide an opportunity to empirically ascertain previously unknown relationships. We performed a systematic analysis of genetic relatedness and were able not only to confirm the reported relationships, but also to detect numerous additional, previously unidentified pairs of close relatives in the HapMap sample. The inferred relative pairs make it possible to propose standardized subsets of unrelated individuals for use in future studies in which relatedness needs to be clearly defined.

Publication types

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

MeSH terms

  • Databases, Genetic*
  • Female
  • Genetic Carrier Screening
  • Genetics, Population*
  • Haplotypes / genetics*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Population Groups / genetics*
  • Sex Determination Processes