International Congress of Endocrinology/ European Congress of Endocrinology media release Embargoed until 00:01CEST, Monday 7 May 2012 Genetic test may allow women at risk of postnatal depression to be identified before they develop the condition Florence, Italy: British researchers have discovered a way of identifying which women are most at risk of postnatal depression (PND). The findings could lead to the development of a simple, accurate blood test for the likelihood of any individual developing the condition, they say. Presenting the research to the International Congress of Endocrinology/European Congress of Endocrinology today (7 May 2012) Professor Dimitris Grammatopoulos, Professor of Molecular Medicine at the University of Warwick, Coventry, UK, said that approximately one in seven women who give birth suffer from PND, which normally starts around two weeks after childbirth. PND can have serious long-term repercussions both on family life and in the emotional and cognitive development of the baby. “Current screening policies rely on the opportunistic finding of PND cases, and screening tools such as the Edinburgh Postnatal Depression Score (EPDS)[1] cannot identify women at risk prospectively,” he said. “We think that we have made an important step forward in characterising the prospective risks and therefore paving the way for timely, appropriate medical treatment for women who are likely to develop PND.” The researchers assessed a group of 200 pregnant women for PND using the EPDS, once at the time of recruitment to the trial (first visit to the ante-natal clinic) and again two to eight weeks after they had given birth. They found that the women who developed PND were more likely to have specific genetic variants of the bcl1 and rs242939 single nucleotide polymorphisms (SNPs)[2] of the glucocorticoid receptor and the corticotrophin-releasing hormone receptor-1 genes, respectively. These receptors control the activity of the hypothalamo-pituitary adrenal (HPA) axis, an endocrine system that is activated in response to stress. The hypothalamus is part of the brain that monitors many aspects of the state of the body‟s systems and is closely linked with the pituitary gland, which releases a number of hormones into the blood stream that control vital body functions. The finding appears to show that postnatal depression is a specific subgroup of depression with a distinct genetic element which means that some women are genetically more reactive to the environment, and that pregnancy may be a trigger factor for depression, the researchers say. Page 1 of 3 xx/xx/12 “Although we knew already that there was an association of the HPA axis with depression, ours is the first study to show a link between specific elements of this pathway and the particular case of PND,” said Professor Grammatopoulos. “We now intend to conduct further research on other genetic variants of the HPA axis in a larger, multi-centre study involving women from Coventry, Birmingham, and London.” PND is a serious condition, the researchers say, and quite different from the „baby blues‟, which is milder and shorter-lived. Symptoms include sadness, changes in eating and sleeping patterns, crying episodes, reduced libido, anxiety and irritability. Effects on children can be significant; for example, depressed mothers are less likely to be affectionate towards and to play with their children and they may use less „baby talk‟ which is designed to engage the child‟s attention. This may lead to learning and emotional difficulties for the children in later life. Although it may seem evident that PND is caused by some kind of hormonal upheaval, some clinicians still believe that it could be due to birth trauma, and the role of the HPA axis in this form of depression has not been proved until now. “We believe that we have made a discovery with important clinical and social implications. If we can identify women likely to suffer from PND in advance so that they can be treated appropriately and at an early stage, we will have improved the lives not just of the parents, but also of their children,” Professor Grammatopoulos concluded. ----------Ends---------Notes for editors [1]The Edinburgh Postnatal Depression Scale is a 10-item self-reported questionnaire developed to identify women with PND. Items of the scale correspond to various symptoms of clinical depression, and overall assessment is done by the total score of the sum of the ten items. [2]A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome differs between paired chromosomes in an individual. These genetic variations underlie differences in susceptibility to, or protection from, all kinds of diseases. The poster (P1101) will be presented at the International Congress of Endocrinology/European Congress of Endocrinology at 18:00-19:30, Monday 7 May 2012. The research was funded by the Departments of Pathology and Obstetrics, University Hospital Coventry and Warwickshire departmental funds, Warwick Medical School and by the Robert Gaddie Memorial Fund. th th The joint 15 International Congress of Endocrinology/14 European Congress of Endocrinology, Europe‟s biggest scientific meeting on hormones, is taking place in Florence, Italy on 5-9 May 2012. For the full programme, see http://www.ice-ece2012.com/. Please mention the International Congress of Endocrinology/European Congress of Endocrinology in any story Page 2 of 3 xx/xx/12 For more information: please contact the European Society of Endocrinology press office Toby Stead +44 (0) 7557 193 345 toby.stead@bioscientifica.com Tom Parkhill +44 (0) 7924 815 389 trparkhill@yahoo.co.uk Jennie Evans +44(0)7773 797 501 jennie.evans@bioscientifica.com The European Society of Endocrinology aims to promote research, education and clinical practice in endocrinology for the public benefit. http://www.ese-hormones.org The International Society of Endocrinology aims to become the premier international organisation for endocrinologists and associated scientific professionals, advancing the profession and improving the efficiency and effectiveness of endocrinology information exchange at international level. http://www.endosociety.com/ ABSTRACT Genetic variation of the hypothalamo-pituitary axis may increase susceptibility of postnatal depression 1 1 1 2 1 N. Engineer , L. Darwin , N. Deole , K. Ngianga-Bakwin , S. Smith & D. Grammatopoulos 1 1,2 2 University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK; University of Warwick, Coventry, UK. Objective: To investigate whether genetic variants in the glucocorticoid receptor (GR) and corticotropin releasing hormone receptor 1(CRHR1) genes are associated with increased susceptibility for postnatal depression (PND). Methods: A prospective longitudinal cohort study at University Hospital, Coventry, England. Two hundred pregnant women were recruited and assessed for PND using the Edinburgh Postnatal Depression Score (EPDS) upon recruitment and again 2-8 weeks post-natally. Five SNPs with established association to depression were genotyped. Association analysis was carried out in 140 patients that completed the study protocol. Results: The bcl1 SNP of the GR and rs242939 SNP of the CRHR1 genes were over-represented in women with PND with significant allele association. Risk ratios for development of PND associated with presence of each minor allele were 2.9(95% confidence interval: 1.2 to 6.9) for bcl1 and 4.9(2 to 12) for rs242939. In contrast, no significant association was found between PND and the R23K, rs1876828 or rs242941 SNPs. Conclusions: This is the first demonstration that specific SNPs of the GR and CRHR1 genes are associated with PND and might represent promising genetic biomarkers to help early identification of women at risk of PND. Page 3 of 3 xx/xx/12