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Regions of homozygosity and their impact on complex diseases and traits

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Abstract

Regions of homozygosity (ROHs) are more abundant in the human genome than previously thought. These regions are without heterozygosity, i.e. all the genetic variations within the regions have two identical alleles. At present there are no standardized criteria for defining the ROHs resulting in the different studies using their own criteria in the analysis of homozygosity. Compared to the era of genotyping microsatellite markers, the advent of high-density single nucleotide polymorphism genotyping arrays has provided an unparalleled opportunity to comprehensively detect these regions in the whole genome in different populations. Several studies have identified ROHs which were associated with complex phenotypes such as schizophrenia, late-onset of Alzheimer’s disease and height. Collectively, these studies have conclusively shown the abundance of ROHs larger than 1 Mb in outbred populations. The homozygosity association approach holds great promise in identifying genetic susceptibility loci harboring recessive variants for complex diseases and traits.

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Authors and Affiliations

  1. Department of Epidemiology and Public Health, Centre for Molecular Epidemiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

    Chee Seng Ku, Nasheen Naidoo & Shu Mei Teo

  2. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

    Yudi Pawitan

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  2. Nasheen Naidoo
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  3. Shu Mei Teo
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  4. Yudi Pawitan
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Correspondence to Chee Seng Ku or Yudi Pawitan.

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Ku, C.S., Naidoo, N., Teo, S.M. et al. Regions of homozygosity and their impact on complex diseases and traits. Hum Genet 129, 1–15 (2011). https://doi.org/10.1007/s00439-010-0920-6

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  • DOI: https://doi.org/10.1007/s00439-010-0920-6

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