New genetic variants found to influence fertility

As part of a massive study that includes the contributions from scores of researchers across the globe, scientists have found a dozen genetic markers linked to fertility, offering hope to the more Pregnancy Bellythan 48 million couples worldwide who struggle to conceive.

Published today the research is the largest genetic epidemiological study on human reproduction ever done involving data from 62 studies. Those studies included information from 251,151 men and women regarding the age when they first had children, and another 343,072 men and women regarding the number of children they’ve had. All individuals were of European descent.


As modern couples increasingly wait until they are older to start families – which in and of itself can make it harder to conceive – the findings in this study may help couples determine how late is too late to have children, researchers said.

One day it may be possible to use this information so doctors can answer the important question: “How late can you wait?” based on the DNA variants,” said Melinda Mills, the lead author of the paper and a professor at the University of Oxford. “It is important to put this into perspective, however, as having a child still strongly depends on many social and environmental factors that will always play a bigger role in whether or when we have babies.”

More To Come

This massive study, that included data collected over several years, illustrates the potential for research into fertility.

23andMe contributed a small part of data used in this study, but the work is an example of the potential for breakthroughs in research into the genetics involved in human reproduction.

Early in 2016, 23andMe began a collaboration with the personalized medicine company Celmatix focusing specifically on discovering genetic factors to dramatically improve the diagnosis and treatment of infertility.

You can read more about that collaboration here.

We expect to announce more on this promising collaboration in the near future.

Estimates are that between 10 and 15 percent of couples have trouble conceiving. Researchers said that the genetic markers identified in this study could potentially serve as drug targets for preventing or delaying age-related declines in fertility and sperm quality, or the markers might be useful for improving the outcomes in fertility treatments.

Led by scientists at Oxford University and University Medical Center Groningen in the Netherlands, the study focused on two common measures of reproduction – age of first birth and number of children born. What the researchers found were 12 genetic markers associated with reproduction, ten of those have never before been associated with fertility. In addition, many of the markers are in genes – or affect the expression of genes – involved in the development of reproductive organs or are tentatively linked to a variety of gynecological disorders. The two indicators for human reproduction used in this study – age of first birth and number of children ever born – have a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders.

This gives scientists more insight into the underlying biology of infertility, researchers said. For example, one of the markers is linked to genes involved in sperm development and is also important in the development of ovaries, the uterus, and placenta.

The study authors point out that genetics is just one of many things that influence fertility in men and women. Personal choices, as well as cultural, economic and social environments also clearly play an important role. But the insights gained in this study could help what the researchers call “reproduction awareness,” a more grounded look at what is possible as couples wait longer and longer to have children.

23andMe principal scientist and statistical geneticist Dave Hinds, said the research is promising on many levels.

“Insights driven by this important research could help in treating the many couples who have difficulty conceiving a child,” he said.

And beyond these specific findings this kind of research is a good example of what else can be done, by combining genetic studies from around the world.

“It is why 23andMe is involved in this and other similar kinds of research. It’s another way to make the contributions from our own customers, who voluntarily participate in research, have an even greater impact in scientific discovery.”


The study appears in the journal Nature.

  • Marlene Khosropur

    I am curious to know if epigenetic influences (i.e. DNA methylation) are a part of any of these studies.

    • 23blog

      Hi Marlene,
      The short answer is that yes the researcher are looking at that possibility, specifically they are trying to identify the variants that likely influence downstream gene expression via regulatory pathways. There’s some discussion of this in the paper itself.

      • Marlene Khosropur


  • Elise Harris

    Yawn. As usual, nothing but dumbed-down vagueness from 23andme, telling us nothing new. Nothing to see here.

  • OVV

    “It is why 23andMe is involved in this and other similar kinds of research. It’s another way to make the contributions from our own customers, who voluntarily participate in research, have an even greater impact in scientific discovery.”

    The article access is being sold for $32. Shouldn’t it be free for 23andMe members whose data was used for it?! Don’t tell me it’s the journal’s fee, shouldn’t have been negotiated to be posted for 23andMe members free of charge. Commercialism at its worst.

    • 23blog

      I believe Nature has a free link to the full article:

      23andMe’s policy is to try to ensure that published research we are involved is open access. We are not always successfully in this but often are.

      • 23blog

        I stand corrected. The Nature article is not free. As I said in my previous comment our policy is to try and ensure that our published research is open, but we are not always successful. And unfortunately the Nature article is not free.

  • Phyllis

    My grandmother was over thirty when she started the second set of her 8 children. My mother born in 1907 had me, her only child, 40 years later. I had my first child at 36 and 2nd and last at 40. My daughter is now 30 but has not yet decided to have children. If she does. it would make a 4th generation of 30-40 year old mothers.

  • Jasey Kat

    Actually thanks for putting it in laymens terms. I see there might be some academic snobery from posters. Maybe a study needs to be done regarding a human empathy to IQ my guess is a negative correlation lol. With that, how do you want 23 and me members to help? I know that I have been overly successful in being able to conceive with females. So its hard to even imagine people having a hard time conceiving from my personal persoective.

    • 23blog

      23andMe customers, who have participate in research, have already helped in this study. Data from our customers were a small part of all the data used in this study, but their contribution helps. Part of what we want to do is inform customers, who participate in research, how their data is being used. This is one of those uses, a large meta-analysis in which scores of other scientists have looked through this data to make important discoveries.

    • busterthepug

      Come on. You don’t mean that empathetic people are stupid, do you?

  • caroltheartist

    This is especially interesting to me because my grandmother, my mother, my younger sister and I all went through the ‘change’ around age 39. My younger sister had a daughter and then was never able to conceive again, even with in vitro. My mother was an only child and born when my grandmother was about 38. I have no children but went through the change quite dramatically when i was 39. I know my older sister went through this easily ten or twelve years after I did. There’s a pretty strong inclination and i know it’s genetic.

  • Praelium

    “Dave Hinds said the research is promising on many levels.” I agree. So many couples are struggling to conceive and 23 and Me has the resources to find solutions. I am treasure my investment in 23 and Me and look forward to learning more about Hinds research.