genetic links

Researchers find genetic link between endometriosis, ovarian cancer

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Data published in Cell Reports Medicine showed that endometriosis was genetically linked to ovarian cancer.

Specifically, the researchers found that endometriosis had a strong and causal relationship with two types of epithelial ovarian cancer (EOC): clear cell (CCOC) and endometrioid (ENOC). There was also a slightly weaker relationship with high-grade serous ovarian cancer.

“Genes identified in this study will be investigated further to better understand their roles in disease development and progression.” Sally Mortlock, PhD
“Genes identified in this study will be investigated further to better understand their roles in disease development and progression.” Sally Mortlock, PhD

Healio spoke with Sally Mortlock, PhD, a postdoctoral researcher at the University of Queensland Institute for Molecular Bioscience in Brisbane, Australia, to learn more about the findings and their implications for the future treatment of both diseases.

Healio: What prompted this study?

Mortlock: Previous studies have reported a higher incidence of EOC in women with a history of endometriosis. We wanted to better understand this potential link between the diseases. Our research aimed to look for genetic risk factors in common to both diseases and shared biological pathways leading to disease.

Healio: Why is it important to investigate this topic?

Mortlock: Despite endometriosis being one of the most common medical issues facing Australian women, with 1 in 9 women of reproductive age having the disease, our understanding of factors contributing to the disease is still limited and it can take an average of 7 to 12 years to diagnose. Ovarian cancer, whilst less common, is the deadliest gynecological cancer due in part to resistance to therapies and the absence of effective early detection strategies. More information about how these two diseases develop and their associated risk factors is needed to advance our understanding so we can develop better early detection and treatments.

Healio: Were any of the findings surprising?

Mortlock: We found that individuals carrying certain genetic markers that predispose them to having endometriosis also have a higher risk of certain EOC subtypes, namely CCOC and ENOC. We were able to identify 19 independent locations on the genome that contained genetic markers that increased risk for both diseases. We found different genetic markers were shared between endometriosis and different types of EOC, and by looking at the genes in these locations we get a better understanding of the link between the diseases and clues into biological pathways driving the different ovarian cancer types.

Healio: How will your findings impact clinical care?

Mortlock: Our findings give us a better understanding of risk factors and biological pathways contributing to these diseases that can be used to inform better diagnosis and treatments. We identified genes in this study that are linked to both diseases and could be drug targets to treat both endometriosis and EOC in the future, and genes that could disrupt the link between the two diseases. Knowledge of the relationship between endometriosis and ovarian cancer may also inform targeted screening for ovarian cancer in the future.

Healio:Considering these findings, what steps need to be taken to make progress in the treatment of endometriosis and EOC?

Mortlock: Genes identified in this study will be investigated further to better understand their roles in disease development and progression.

Healio: Is there anything else you would like to add?

Mortlock: Whilst there is significant overlap in genetic risk factors between endometriosis and ovarian cancer, the risk of women with endometriosis developing ovarian cancer is not substantially different from other women. Overall, studies have estimated that 1 in 76 women are at risk of developing ovarian cancer in their lifetime and having endometriosis increases this slightly to 1 in 55, so the overall risk is still very low.

Endometriosis affects as many women as diabetes and asthma yet it has not received the same level of attention or funding. Funding for the next generation of researchers is limited and highly competitive, competing against more well-known diseases. It is important to ensure that the next generation of researchers in endometriosis is not lost. Such a loss could limit future scientific discovery in a disease that affects so many women.

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Scientists have found genetic links between personality traits and psychiatric diseases.

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The secrets hiding in our DNA.

Scientists have identified genetic links between a set of psychological factors known as ‘the big five‘ personality traits – extraversion, neuroticism, agreeableness, conscientiousness, and openness to experience – and say they could also influence risk factors for certain psychiatric disorders.

While it has already been established that personality is partly linked to genetics, recent genome-wide association studies like this will allow researchers to take a closer look at which parts of our DNA code affect certain aspects of our character.

“Although personality traits are heritable, it has been difficult to characterise genetic variants associated with personality until recent, large-scale GWAS,” explains lead researcher Chi-Hua Chen from the University of California, San Diego.

Chen and his team analysed genetic data, including around 60,000 genetic samples collected by private firm 23andMe and some 80,000 samples provided by the Genetics of Personality Consortium.

With so much DNA data to work with, they were able to look for correlations between specific genetic features, personality traits, and psychiatric disorders.

We know that parts of our personality, such as intelligence, are down to a combination of the genes we were born with – our inherited DNA – and our life experiences, such as how good our teachers are when we’re growing up.

But scientists aren’t certain about how these two factors balance out, which makes large-scale studies like this very useful.

The researchers found links between certain genes and certain traits. For instance, the genes WSCD2 and PCDH15 are connected to extraversion, while the gene L3MBTL2 and the chromosome 8p23.1 are tied to neuroticism.

They also found that genes related to neuroticism and openness to experience were clustered together in the same regions as genes linked to certain psychiatric disorders.

Other genetic correlations showed connections between extraversion and attention deficit/hyperactivity disorder (ADHD); between openness and schizophrenia and bipolar disorder; and between neuroticism and depression and anxiety.

In other words, the same parts of DNA coding that help define our personalities could also affect our likelihood of developing mental health problems.

That’s not to say the genes we’re born with fully define our personality and make psychiatric problems inevitable, but they do seem to have an influence – and could be closely linked to each other, based on these findings.

On the other hand, the research found no genetic overlap between mental illnesses and agreeableness (being cooperative and compassionate), or conscientiousness (being responsible and self-disciplined).

It’s still early days for the research, and the study has only shown a correlation, not a causative link between personality traits and certain psychological disorders, but the team says with more investigation, we might be able to find a way to predict and treat these disorders in the future.

“Our study is in an early stage for genetic research in personality, and many more genetic variants associated with personality traits are to be discovered,” says Chen.

“We found genetic correlations between personality traits and psychiatric disorders, but specific variants underlying the correlations are unknown.”