Abstract
Runs of homozygosity (ROH) are extended tracts of adjacent homozygous single nucleotide polymorphisms (SNPs) that are more common in unrelated individuals than previously thought. It has been proposed that estimating ROH on a genome-wide level, by making use of the genome-wide single nucleotide polymorphism (SNP) data, will enable to indentify recessive variants underlying complex traits. Here, we examined ROH larger than 1.5 Mb individually and in combination for association with survival in 5974 participants of the Rotterdam Study. In addition, we assessed the role of overall homozygosity, expressed as a percentage of the autosomal genome that is in ROH longer than 1.5 Mb, on survival during a mean follow-up period of 12 years. None of these measures of homozygosity was associated with survival to old age.
Highlights
Runs of homozygosity (ROH) are extended tracts of adjacent homozygous single nucleotide polymorphisms (SNPs) that are more common in unrelated individuals than previously thought
In order to assess the role of ROH in human longevity and to identify novel longevity loci, we examined overall homozygosity, and individual ROH regions in the whole genome that are larger than 1.5 Mb
Genome-wide ROH were identified using the Runs of Homozygosity program implemented in PLINK software [10]
Summary
Runs of homozygosity (ROH) are extended tracts of adjacent homozygous single nucleotide polymorphisms (SNPs) that are more common in unrelated individuals than previously thought. A number of studies have analyzed genome-wide SNP data for ROH and identified individual ROHs that increase the risk of schizophrenia [1] or Alzheimer’s disease [4], and associate with height [5] in unrelated individuals. We examined ROH larger than 1.5 Mb individually and in combination for association with survival in 5974 participants of the Rotterdam Study.
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