Endometriosis and depression: is there a genetic link? – Checkup

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Norman swan: For something that affects one in three women and costs those affected about $ 30,000 per year in lost labor and health costs, we don’t know enough about endometriosis. This is when tissue similar to the lining of the uterus grows elsewhere in the body and can cause pain, especially pain in the pelvis, and even infertility. And so the awareness of endometriosis is much better than before, but it has often been dismissed as a women’s problem. But a new genetic study shows that endometriosis has a genetic link to depression and bowel problems, and there may be a cause-and-effect link. Hi Tegan, you watched this.

Tegan taylor: Hi, yeah, that’s a crazy link to show, isn’t it. It’s the kind of thing you might go to if you had debilitating pain every month and your doctors couldn’t give you an answer, it wouldn’t be surprising if you were depressed. But it actually seems that the genetic cause-and-effect link works the other way around.

Norman swan: So tell me about the study.

Tegan taylor: So this is a very large study that looked at a few large genetic databases, and basically they were looking for a shared genetic risk factor for depression and endometriosis because they knew observational studies showed that in women with depression, they are twice as likely as the general population to have endometriosis, and similarly in women with endometriosis, they are twice as likely as the general population to suffer from depression. So there seemed to be a connection there.

And so they were looking for a shared genetic risk factor, and they actually found several. And then when they did more analysis, they showed this causal relationship between depression and endometriosis, and they both seemed to have a causal relationship with something that involves the gastric lining, so the gastrointestinal reflux or gastritis. peptic ulcers. And so, there seems to be some sort of linear relationship between the genes that may be malfunctioning to cause these stomach upsets and things like depression and endometriosis.

Norman swan: These studies are called genome-wide association studies, so they’re not gene sequencing, they’re looking at 700,000 distinct points in the genome, and those points called SNPs are close to where they might be. genes, and they have been criticized as mere exercises in collecting data that might not be important or that might just be accidental associations.

Tegan taylor: Yes, that fits into a larger area of ​​research where we have these observational studies on a side where it seems like people are more likely to have any of these things if they have the. something else, but you can’t show cause and effect. And so I spoke to one of the researchers in the study, Dale Nyholt from the Queensland University of Technology, and he said that when you look at genetics, you are able to make a clear connection between l ‘endo and these other conditions.

Dale nyholt: As a geneticist we always look at genetics because it’s less influenced by some of these other environmental factors that might make something look like something is comorbid, but if we find common genetic risk factors, well , it’s in your germ line, so that’s what you inherited. And by doing this type of analysis that we have done, we are really confirming and validating that there is something that is biologically shared among individuals who suffer from these traits.

Norman swan: This is Dale Nyholt from Queensland University of Technology. So what does this mean for women with endometriosis, Tegan?

Tegan taylor: Well, when I started reporting on this study, I thought about calling my friends and family, see if there is anyone I know who had this experience. I was amazed at the number of people who responded, and the stories are just heartbreaking. And this idea of ​​what Dale just said about validation, he was talking about validation in a scientific sense, but I think for women personally it’s very valid to hear that it’s a genetic thing. .

Late diagnosis is very common with endometriosis. People don’t feel seen or understood or, as you said at the start, they are dismissed as having women’s issues. But on top of that, that lack of continuity of care and that frustration of being referred back and forth between doctors. So a woman was being treated for endometriosis and she was told she was suffering from irritable bowel syndrome but when she saw a bowel doctor they were, like, no you have endometriosis , and she’s just going from one specialist to another. . So this appreciation that these cases might be related is really valuable.

And so one of the people I spoke to was Sophie Volker, and she has a history of depression as well as endometriosis and bowel issues, but like a lot of women, it took her a long time to get one. diagnosis, and his doctors did not. immediately make the link between the three conditions.

Sophie volker: I had had a very painful period, had bowel problems forever, I just thought it was a pretty normal part of my life. And so I think the confusion of not having answers, not having a diagnosis, and having pain all the time probably contributed a little to my depression.

Norman swan: It’s Sophie Volker. I mean, it’s okay to say there’s a genetic link, and researchers think it’s a cause and an effect, but if it’s a cause and an effect, what’s the biological mechanism?

Tegan taylor: They think it has something to do with inflammation, so these genetic pathways, it’s not like the only job they have is giving someone an endo or giving someone depression. ‘one, these are gene sequences that have to do with cell death and repair, and they do all kinds of different things, but they think inflammation plays a role.

And so one of the … I mean, yeah, you kind of do that DNA analysis and then it’s up to another group of researchers to figure out what to do with it, but there have been other studies already to find out. so dietary interventions, for example, a diet low in FODMAP may be helpful in people with endometriosis, and they have had promising results. So that helps put that in context and it would be nice to see more research in this space.

And it also has implications for the types of drugs people are prescribed. So if you have a bowel problem, taking a nonsteroidal anti-inflammatory drug for your endometriosis pain might not be appropriate because you have bowel issues. But also because we know what genetic pathways might be involved now, then these pathways and genes could be potential targets for drugs, especially in people with both endometriosis and depression.

Norman swan: And I guess the other thing is that there is some evidence of some interesting antidepressants, the tricyclics, that they can have some weird effects that have nothing to do with their antidepressant effects, and it could be that you start using antidepressants, not necessarily for their effect on depression, but they may have an effect on endometriosis.

Tegan taylor: Maybe, exactly, and that also underlines the importance of screening. So if you have someone who comes with, say, depression and bowel issues and it’s a female, you need to screen them for endometriosis as well, because there’s a higher probability. than average this woman also suffers from endometriosis.

Norman swan: Did we give general practitioners a lot of work after Checkup! You got to work on the fish oil tablets, and you got to work on the depression and they got endometriosis issues, all serious issues.

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