Associations of autozygosity with a broad range of human phenotypes

Associations of autozygosity with a broad range of human phenotypes, Daniela Ruggiero

Research output: Contribution to journalArticlepeer-review


In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

Original languageEnglish
Pages (from-to)4957
JournalNature Communications
Issue number1
Publication statusPublished - Oct 31 2019


Dive into the research topics of 'Associations of autozygosity with a broad range of human phenotypes'. Together they form a unique fingerprint.

Cite this