New information on genes that influence human reproductive behaviour

Submitted on Tue, 11/01/2016 - 11:58

An international study has found new genetic loci that have an effect on, for example, the number of children people have.

It was previously known that the genetic architecture of human reproductive behaviour – age at first birth (AFB) and number of children ever born (NEB) – has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, researchers had identified very few genetic loci related to reproduction, and the underlying mechanisms of AFB and NEB were poorly understood.

In an international association study, the genome of 251,151 men and women was analysed, and the information was compared to the age at which they had their first children. The analysis that focused on the number of children born was carried out by using the genome of 343,072 people.

The genome-wide association studies identified twelve independent genetic loci that have a significant effect on either the parent’s age at the birth of the first child or the number of children or both. Four additional loci were identified in an analysis of such genetic loci that were already know.

“The genes in these loci are likely to have an effect on human reproduction and infertility either directly or by affecting non-local gene expression. They thus increase the understanding about these complex traits,” says Terho Lehtimäki, professor of clinical chemistry at the University of Tampere who participated in the study.

Lehtimäki is the researcher in charge of genetics and epigenetics in the Cardiovascular Risks in Young Finns study whose data was used in the meta-analysis.

The research results are an important step towards understanding the genetic factors that affect reproductive behaviour. The results may prove useful in the search for the causes of infertility.

Nature Genetics: Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

For more information, please contact:
Professor Terho Lehtimäki, tel. +358 50 433 6285,