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1. Leiomyoma

Author

Fung, Jenny, Ascher-Walsh, Charles, Khalil, Susan, Khalil, Susan, editor, and Zakashansky, Konstantin, editor

Published
2024
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2. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Author

Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L, Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H, Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F, Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S, Campbell, Archie, Cheuk, Cecilia SK, Clementi, Caterina, Cook, James, De Vivo, Immaculata, DiVasta, Amy, Dorien, O, Donoghue, Jacqueline F, Edwards, Todd, Fontanillas, Pierre, Fung, Jenny N, Geirsson, Reynir T, Girling, Jane E, Harkki, Paivi, Harris, Holly R, Healey, Martin, Heikinheimo, Oskari, Holdsworth-Carson, Sarah, Hostettler, Isabel C, Houlden, Henry, Houshdaran, Sahar, Irwin, Juan C, Jarvelin, Marjo-Riitta, Kamatani, Yoichiro, Kennedy, Stephen H, Kepka, Ewa, Kettunen, Johannes, Kubo, Michiaki, Kulig, Bartosz, Kurra, Venla, Laivuori, Hannele, Laufer, Marc R, Lindgren, Cecilia M, MacGregor, Stuart, Mangino, Massimo, Martin, Nicholas G, Matalliotaki, Charoula, Matalliotakis, Michail, Murray, Alison D, Ndungu, Anne, Nezhat, Camran, Olsen, Catherine M, Opoku-Anane, Jessica, Padmanabhan, Sandosh, Paranjpe, Manish, Peters, Maire, Polak, Grzegorz, Porteous, David J, Rabban, Joseph, Rexrode, Kathyrn M, Romanowicz, Hanna, Saare, Merli, Saavalainen, Liisu, Schork, Andrew J, Sen, Sushmita, Shafrir, Amy L, Siewierska-Górska, Anna, Słomka, Marcin, Smith, Blair H, Smolarz, Beata, Szaflik, Tomasz, Szyłło, Krzysztof, Takahashi, Atsushi, Terry, Kathryn L, Tomassetti, Carla, Treloar, Susan A, Vanhie, Arne, Vincent, Katy, Vo, Kim C, Werring, David J, Zeggini, Eleftheria, Zervou, Maria I, and Adachi, Sosuke

Subjects
Biological Sciences, Genetics, Contraception/Reproduction, Clinical Research, Endometriosis, Prevention, Pain Research, Chronic Pain, Infertility, 2.1 Biological and endogenous factors, Aetiology, Female, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study, Pain, Comorbidity, DBDS Genomic Consortium, FinnGen Study, FinnGen Endometriosis Taskforce, Celmatix Research Team, 23andMe Research Team, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention.

Published
2023

3. SARS-CoV-2 drives NLRP3 inflammasome activation in human microglia through spike protein

Author

Albornoz, Eduardo A., Amarilla, Alberto A., Modhiran, Naphak, Parker, Sandra, Li, Xaria X., Wijesundara, Danushka K., Aguado, Julio, Zamora, Adriana Pliego, McMillan, Christopher L. D., Liang, Benjamin, Peng, Nias Y. G., Sng, Julian D. J., Saima, Fatema Tuj, Fung, Jenny N., Lee, John D., Paramitha, Devina, Parry, Rhys, Avumegah, Michael S., Isaacs, Ariel, Lo, Martin W., Miranda-Chacon, Zaray, Bradshaw, Daniella, Salinas-Rebolledo, Constanza, Rajapakse, Niwanthi W., Wolvetang, Ernst J., Munro, Trent P., Rojas-Fernandez, Alejandro, Young, Paul R., Stacey, Katryn J., Khromykh, Alexander A., Chappell, Keith J., Watterson, Daniel, and Woodruff, Trent M.

Published
2023
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9. Is it necessary to report the death of SA expats to Home Affairs?

Author

Fung, Jenny and Hirschowitz, Daniel

Subjects
Business, international
Abstract

Globalisation coupled with opportunities abroad, has made it quite common for many South Africans to emigrate. Although a South African expat may think that they are finally free from South [...]

Published
2024

13. Abstract 15514: Ace Inhibitors, Angiotensin Receptor Blockers, and Outcomes in Hospitalized Patients With Severe Covid-19 Pneumonia

Author

Grewal, Prabhjot, Yoo, Jeanwoo, Papamanoli, Aikaterini, Mojahedi, Azad, Dhaliwal, Simrat, Nakamura, Jacquelyn, Abata, Joshua, Robin, Jacob, Fung, Jenny, Hotelling, Jessica, Rawal, Sahil, Karkala, Nikitha, Tsui, Stella T, Coritsidis, Alexandra, Marcos, Luis, Bloom, Michelle E, Skopicki, Hal, and Kalogeropoulos, Andreas P

Published
2020
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14. Abstract 14697: Nt-probnp and Outcomes in Patients With and Without Heart Failure Hospitalized With Severe Covid-19 Pneumonia

Author

Yoo, Jeanwoo, Grewal, Prabhjot, Papamanoli, Aikaterini, Mojahedi, Azad, Nakamura, Jacquelyn, Fung, Jenny, Abata, Joshua, Dhaliwal, Simrat, Jacob, Robin, Hotelling, Jessica, Karkala, Nikitha, Tsui, Stella T, Rawal, Sahil, Coritsidis, Alexandra, Marcos, Luis, Bloom, Michelle, Skopicki, Hal, and Kalogeropoulos, Andreas P

Published
2020
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16. SARS-CoV-2 drives NLRP3 inflammasome activation in human microglia through spike protein

Author

Albornoz, Eduardo A., primary, Amarilla, Alberto A., additional, Modhiran, Naphak, additional, Parker, Sandra, additional, Li, Xaria X., additional, Wijesundara, Danushka K., additional, Aguado, Julio, additional, Zamora, Adriana Pliego, additional, McMillan, Christopher L. D., additional, Liang, Benjamin, additional, Peng, Nias Y. G., additional, Sng, Julian D. J., additional, Saima, Fatema Tuj, additional, Fung, Jenny N., additional, Lee, John D., additional, Paramitha, Devina, additional, Parry, Rhys, additional, Avumegah, Michael S., additional, Isaacs, Ariel, additional, Lo, Martin W., additional, Miranda-Chacon, Zaray, additional, Bradshaw, Daniella, additional, Salinas-Rebolledo, Constanza, additional, Rajapakse, Niwanthi W., additional, Wolvetang, Ernst J., additional, Munro, Trent P., additional, Rojas-Fernandez, Alejandro, additional, Young, Paul R., additional, Stacey, Katryn J., additional, Khromykh, Alexander A., additional, Chappell, Keith J., additional, Watterson, Daniel, additional, and Woodruff, Trent M., additional

Published
2022
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25. Absence of receptor for advanced glycation end product (RAGE) reduces inflammation and extends survival in the hSOD1G93A mouse model of amyotrophic lateral sclerosis

Author

Lee, John D, McDonald, Tanya S, Fung, Jenny NT, and Woodruff, Trent M

Subjects
0301 basic medicine, animal diseases, SOD1, Neuroscience (miscellaneous), Inflammation, HMGB1, RAGE (receptor), Cellular and Molecular Neuroscience, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Medicine, Amyotrophic lateral sclerosis, Neuroinflammation, 030304 developmental biology, Denervation, 0303 health sciences, biology, business.industry, Neurodegeneration, nutritional and metabolic diseases, medicine.disease, 030104 developmental biology, Neurology, chemistry, Immunology, biology.protein, Advanced glycation end-product, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal and rapidly progressing motor neuron degenerative disease that is without effective treatment. The receptor for advanced glycation end products (RAGE) is a major component of the innate immune system that has been implicated in ALS pathogenesis. However, the contribution of RAGE signaling to the neuroinflammation that underlies ALS neurodegeneration remains unknown. The present study therefore generated SOD1G93A mice lacking RAGE, and compared them to SOD1G93A transgenic ALS mice in respect to disease progression (i.e. body weight, survival and muscle strength), neuroinflammation and denervation markers in the spinal cord and tibialis anterior muscle. We found that complete absence of RAGE signaling exerted a protective effect on SOD1G93A pathology, slowing disease progression and significantly extending survival by ∼3 weeks, and improving motor function (rotarod and grip strength). This was associated with reduced microgliosis, cytokines, innate immune factors (complement, TLRs, inflammasomes), and oxidative stress in the spinal cord, and a reduction of denervation markers in the tibialis anterior muscle. We also documented that RAGE mRNA expression was significantly increased in the spinal cord and muscles of preclinical SOD1 and TDP43 models of ALS, supporting a widespread involvement for RAGE in ALS pathology. In summary, our results indicate that RAGE signalling drives neuroinflammation and contributes to neurodegeneration in ALS, and highlights RAGE as a potential immune therapeutic target for ALS.

Published
2020
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26. Elucidating the role of long intergenic non-coding RNA 339 in human endometrium and endometriosis

Author

Holdsworth-Carson, Sarah J, primary, Churchill, Molly, additional, Donoghue, Jacqueline F, additional, Mortlock, Sally, additional, Fung, Jenny N, additional, Sloggett, Clare, additional, Chung, Jessica, additional, Cann, Leonie, additional, Teh, Wan Tinn, additional, Campbell, Katie-Rose, additional, Luwor, Rodney, additional, Healey, Martin, additional, Montgomery, Grant, additional, Girling, Jane E, additional, and Rogers, Peter A W, additional

Published
2021
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27. An Immunoregulatory Role for Complement Receptors in Murine Models of Breast Cancer

Author

Akhir, Fazrena Nadia Md, primary, Noor, Mohd Hezmee Mohd, additional, Leong, Keith Weng Kit, additional, Nabizadeh, Jamileh A., additional, Manthey, Helga D., additional, Sonderegger, Stefan E., additional, Fung, Jenny Nga Ting, additional, McGirr, Crystal E., additional, Shiels, Ian A., additional, Mills, Paul C., additional, Woodruff, Trent M., additional, and Rolfe, Barbara E., additional

Published
2021
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29. 76. Effect of Early Administration of Systemic Corticosteroids on Outcomes in Patients with COVID-19 Pneumonia

Author

Papamanoli, Aikaterini, primary, Kalogeropoulos, Andreas, additional, Fung, Jenny, additional, Nakamura, Jacquelyn, additional, Yoo, Jeanwoo, additional, Grewal, Prabhjot, additional, Karkala, Nikitha, additional, Abata, Joshua, additional, Tsui, Stella T, additional, Coritsidis, Alexandra, additional, Mojahedi, Azad, additional, Jacob, Robin, additional, Hotelling, Jessica, additional, Dhaliwal, Simrat, additional, Rawal, Sahil, additional, and Marcos, Luis, additional

Published
2020
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30. N-Terminal Pro-B-Type Natriuretic Peptide and Mortality in Patients without Heart Failure Hospitalized with Severe Covid-19 Pneumonia

Author

Yoo, Jeanwoo, primary, Papamanoli, Aikaterini, additional, Grewal, Prabhjot, additional, Nakamura, Jacquelyn, additional, Dhaliwal, Simrat, additional, Fung, Jenny, additional, Jacob, Robin, additional, Abata, Joshua, additional, Hotelling, Jessica, additional, Karkala, Nikitha, additional, Rawal, Sahil, additional, Coritsidis, Alexandra, additional, Tsui, To, additional, Skopicki, Hal, additional, Marcos, Luis A., additional, and Kalogeropoulos, Andreas, additional

Published
2020
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31. 53. Incidence of Bloodstream Infections and Outcomes in Patients with Severe COVID-19 Pneumonia

Author

Papamanoli, Aikaterini, primary, Yoo, Jeanwoo, additional, Mojahedi, Azad, additional, Jacob, Robin, additional, Grewal, Prabhjot, additional, Dhaliwal, Simrat, additional, Coritsidis, Alexandra, additional, Nakamura, Jacquelyn, additional, Fung, Jenny, additional, Hotelling, Jessica, additional, Rawal, Sahil, additional, Karkala, Nikitha, additional, Tsui, Stella T, additional, Abata, Joshua, additional, Psevdos, George, additional, Kalogeropoulos, Andreas, additional, and Marcos, Luis, additional

Published
2020
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32. 382. Incidence of Hospital-Acquired and Ventilator-Associated Pneumonia in Patients with Severe COVID 19 on High Flow Oxygen

Author

Papamanoli, Aikaterini, primary, Nakamura, Jacquelyn, additional, Fung, Jenny, additional, Abata, Joshua, additional, Karkala, Nikitha, additional, Tsui, Stella T, additional, Yoo, Jeanwoo, additional, Grewal, Prabhjot, additional, Mojahedi, Azad, additional, Dhaliwal, Simrat, additional, Jacob, Robin, additional, Hotelling, Jessica, additional, Rawal, Sahil, additional, Coritsidis, Alexandra, additional, Psevdos, George, additional, Kalogeropoulos, Andreas, additional, and Marcos, Luis, additional

Published
2020
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35. Tissue specific regulation of transcription in endometrium and association with disease

Author

Mortlock, Sally, primary, Kendarsari, Raden I, primary, Fung, Jenny N, primary, Gibson, Greg, primary, Yang, Fei, primary, Restuadi, Restuadi, primary, Girling, Jane E, primary, Holdsworth-Carson, Sarah J, primary, Teh, Wan Tinn, primary, Lukowski, Samuel W, primary, Healey, Martin, primary, Qi, Ting, primary, Rogers, Peter A W, primary, Yang, Jian, primary, McKinnon, Brett, primary, and Montgomery, Grant W, primary

Published
2020
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40. Identification of nine new susceptibility loci for endometrial cancer.

Author

O'Mara, Tracy A, Glubb, Dylan M, Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L, Beckmann, Matthias W, Black, Amanda, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Buchanan, Daniel D, Burwinkel, Barbara, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Chen, Maxine M, Cheng, Timothy H T, Clarke, Christine L, Clendenning, Mark, Cook, Linda S, Couch, Fergus J, Cox, Angela, Crous-Bous, Marta, Czene, Kamila, Day, Felix, Dennis, Joe, Depreeuw, Jeroen, Doherty, Jennifer Anne, Dörk, Thilo, Dowdy, Sean C, Dürst, Matthias, Ekici, Arif B, Fasching, Peter A, Fridley, Brooke L, Friedenreich, Christine M, Fritschi, Lin, Fung, Jenny, García-Closas, Montserrat, Gaudet, Mia M, Giles, Graham G, Goode, Ellen L, Gorman, Maggie, Haiman, Christopher A, Hall, Per, Hankison, Susan E, Healey, Catherine S, Hein, Alexander, Hillemanns, Peter, Hodgson, Shirley, Hoivik, Erling A, Holliday, Elizabeth G, Hopper, John L, Hunter, David J, Jones, Angela, Krakstad, Camilla, Kristensen, Vessela N, Lambrechts, Diether, Marchand, Loic Le, Liang, Xiaolin, Lindblom, Annika, Lissowska, Jolanta, Long, Jirong, Lu, Lingeng, Magliocco, Anthony M, Martin, Lynn, McEvoy, Mark, Meindl, Alfons, Michailidou, Kyriaki, Milne, Roger L, Mints, Miriam, Montgomery, Grant W, Nassir, Rami, Olsson, Håkan, Orlow, Irene, Otton, Geoffrey, Palles, Claire, Perry, John R B, Peto, Julian, Pooler, Loreall, Prescott, Jennifer, Proietto, Tony, Rebbeck, Timothy R, Risch, Harvey A, Rogers, Peter A W, Rübner, Matthias, Runnebaum, Ingo, Sacerdote, Carlotta, Sarto, Gloria E, Schumacher, Fredrick, Scott, Rodney J, Setiawan, V Wendy, Shah, Mitul, Sheng, Xin, Shu, Xiao-Ou, Southey, Melissa C, Swerdlow, Anthony J, Tham, Emma, Trovik, Jone, Turman, Constance, Tyrer, Jonathan P, Vachon, Celine, VanDen Berg, David, Vanderstichele, Adriaan, Wang, Zhaoming, Webb, Penelope M, Wentzensen, Nicolas, Werner, Henrica M J, Winham, Stacey J, Wolk, Alicja, Xia, Lucy, Xiang, Yong-Bing, Yang, Hannah P, Yu, Herbert, Zheng, Wei, Pharoah, Paul D P, Dunning, Alison M, Kraft, Peter, De Vivo, Immaculata, Tomlinson, Ian, Easton, Douglas F, Spurdle, Amanda B, Thompson, Deborah J, O'Mara, Tracy A, Glubb, Dylan M, Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L, Beckmann, Matthias W, Black, Amanda, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Buchanan, Daniel D, Burwinkel, Barbara, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Chu, Chen, Maxine M, Cheng, Timothy H T, Clarke, Christine L, Clendenning, Mark, Cook, Linda S, Couch, Fergus J, Cox, Angela, Crous-Bous, Marta, Czene, Kamila, Day, Felix, Dennis, Joe, Depreeuw, Jeroen, Doherty, Jennifer Anne, Dörk, Thilo, Dowdy, Sean C, Dürst, Matthias, Ekici, Arif B, Fasching, Peter A, Fridley, Brooke L, Friedenreich, Christine M, Fritschi, Lin, Fung, Jenny, García-Closas, Montserrat, Gaudet, Mia M, Giles, Graham G, Goode, Ellen L, Gorman, Maggie, Haiman, Christopher A, Hall, Per, Hankison, Susan E, Healey, Catherine S, Hein, Alexander, Hillemanns, Peter, Hodgson, Shirley, Hoivik, Erling A, Holliday, Elizabeth G, Hopper, John L, Hunter, David J, Jones, Angela, Krakstad, Camilla, Kristensen, Vessela N, Lambrechts, Diether, Marchand, Loic Le, Liang, Xiaolin, Lindblom, Annika, Lissowska, Jolanta, Long, Jirong, Lu, Lingeng, Magliocco, Anthony M, Martin, Lynn, McEvoy, Mark, Meindl, Alfons, Michailidou, Kyriaki, Milne, Roger L, Mints, Miriam, Montgomery, Grant W, Nassir, Rami, Olsson, Håkan, Orlow, Irene, Otton, Geoffrey, Palles, Claire, Perry, John R B, Peto, Julian, Pooler, Loreall, Prescott, Jennifer, Proietto, Tony, Rebbeck, Timothy R, Risch, Harvey A, Rogers, Peter A W, Rübner, Matthias, Runnebaum, Ingo, Sacerdote, Carlotta, Sarto, Gloria E, Schumacher, Fredrick, Scott, Rodney J, Setiawan, V Wendy, Shah, Mitul, Sheng, Xin, Shu, Xiao-Ou, Southey, Melissa C, Swerdlow, Anthony J, Tham, Emma, Trovik, Jone, Turman, Constance, Tyrer, Jonathan P, Vachon, Celine, VanDen Berg, David, Vanderstichele, Adriaan, Wang, Zhaoming, Webb, Penelope M, Wentzensen, Nicolas, Werner, Henrica M J, Winham, Stacey J, Wolk, Alicja, Xia, Lucy, Xiang, Yong-Bing, Yang, Hannah P, Yu, Herbert, Zheng, Wei, Pharoah, Paul D P, Dunning, Alison M, Kraft, Peter, De Vivo, Immaculata, Tomlinson, Ian, Easton, Douglas F, Spurdle, Amanda B, and Thompson, Deborah J

Abstract

Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study.

Published
2018
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42. Absence of Receptor for Advanced Glycation End Product (RAGE) Reduces Inflammation and Extends Survival in the hSOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis.

Author

Lee, John D., McDonald, Tanya S., Fung, Jenny N. T., and Woodruff, Trent M.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal and rapidly progressing motor neuron degenerative disease that is without effective treatment. The receptor for advanced glycation end products (RAGE) is a major component of the innate immune system that has been implicated in ALS pathogenesis. However, the contribution of RAGE signalling to the neuroinflammation that underlies ALS neurodegeneration remains unknown. The present study therefore generated SOD1G93A mice lacking RAGE and compared them with SOD1G93A transgenic ALS mice in respect to disease progression (i.e. body weight, survival and muscle strength), neuroinflammation and denervation markers in the spinal cord and tibialis anterior muscle. We found that complete absence of RAGE signalling exerted a protective effect on SOD1G93A pathology, slowing disease progression and significantly extending survival by ~ 3 weeks and improving motor function (rotarod and grip strength). This was associated with reduced microgliosis, cytokines, innate immune factors (complement, TLRs, inflammasomes), and oxidative stress in the spinal cord, and a reduction of denervation markers in the tibialis anterior muscle. We also documented that RAGE mRNA expression was significantly increased in the spinal cord and muscles of preclinical SOD1 and TDP43 models of ALS, supporting a widespread involvement for RAGE in ALS pathology. In summary, our results indicate that RAGE signalling drives neuroinflammation and contributes to neurodegeneration in ALS and highlights RAGE as a potential immune therapeutic target for ALS. [ABSTRACT FROM AUTHOR]

Published
2020
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43. Identification of nine new susceptibility loci for endometrial cancer

Author

O’Mara, Tracy A., primary, Glubb, Dylan M., additional, Amant, Frederic, additional, Annibali, Daniela, additional, Ashton, Katie, additional, Attia, John, additional, Auer, Paul L., additional, Beckmann, Matthias W., additional, Black, Amanda, additional, Bolla, Manjeet K., additional, Brauch, Hiltrud, additional, Brenner, Hermann, additional, Brinton, Louise, additional, Buchanan, Daniel D., additional, Burwinkel, Barbara, additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chen, Chu, additional, Chen, Maxine M., additional, Cheng, Timothy H. T., additional, Clarke, Christine L., additional, Clendenning, Mark, additional, Cook, Linda S., additional, Couch, Fergus J., additional, Cox, Angela, additional, Crous-Bous, Marta, additional, Czene, Kamila, additional, Day, Felix, additional, Dennis, Joe, additional, Depreeuw, Jeroen, additional, Doherty, Jennifer Anne, additional, Dörk, Thilo, additional, Dowdy, Sean C., additional, Dürst, Matthias, additional, Ekici, Arif B., additional, Fasching, Peter A., additional, Fridley, Brooke L., additional, Friedenreich, Christine M., additional, Fritschi, Lin, additional, Fung, Jenny, additional, García-Closas, Montserrat, additional, Gaudet, Mia M., additional, Giles, Graham G., additional, Goode, Ellen L., additional, Gorman, Maggie, additional, Haiman, Christopher A., additional, Hall, Per, additional, Hankison, Susan E., additional, Healey, Catherine S., additional, Hein, Alexander, additional, Hillemanns, Peter, additional, Hodgson, Shirley, additional, Hoivik, Erling A., additional, Holliday, Elizabeth G., additional, Hopper, John L., additional, Hunter, David J., additional, Jones, Angela, additional, Krakstad, Camilla, additional, Kristensen, Vessela N., additional, Lambrechts, Diether, additional, Marchand, Loic Le, additional, Liang, Xiaolin, additional, Lindblom, Annika, additional, Lissowska, Jolanta, additional, Long, Jirong, additional, Lu, Lingeng, additional, Magliocco, Anthony M., additional, Martin, Lynn, additional, McEvoy, Mark, additional, Meindl, Alfons, additional, Michailidou, Kyriaki, additional, Milne, Roger L., additional, Mints, Miriam, additional, Montgomery, Grant W., additional, Nassir, Rami, additional, Olsson, Håkan, additional, Orlow, Irene, additional, Otton, Geoffrey, additional, Palles, Claire, additional, Perry, John R. B., additional, Peto, Julian, additional, Pooler, Loreall, additional, Prescott, Jennifer, additional, Proietto, Tony, additional, Rebbeck, Timothy R., additional, Risch, Harvey A., additional, Rogers, Peter A. W., additional, Rübner, Matthias, additional, Runnebaum, Ingo, additional, Sacerdote, Carlotta, additional, Sarto, Gloria E., additional, Schumacher, Fredrick, additional, Scott, Rodney J., additional, Setiawan, V. Wendy, additional, Shah, Mitul, additional, Sheng, Xin, additional, Shu, Xiao-Ou, additional, Southey, Melissa C., additional, Swerdlow, Anthony J., additional, Tham, Emma, additional, Trovik, Jone, additional, Turman, Constance, additional, Tyrer, Jonathan P., additional, Vachon, Celine, additional, VanDen Berg, David, additional, Vanderstichele, Adriaan, additional, Wang, Zhaoming, additional, Webb, Penelope M., additional, Wentzensen, Nicolas, additional, Werner, Henrica M. J., additional, Winham, Stacey J., additional, Wolk, Alicja, additional, Xia, Lucy, additional, Xiang, Yong-Bing, additional, Yang, Hannah P., additional, Yu, Herbert, additional, Zheng, Wei, additional, Pharoah, Paul D. P., additional, Dunning, Alison M., additional, Kraft, Peter, additional, De Vivo, Immaculata, additional, Tomlinson, Ian, additional, Easton, Douglas F., additional, Spurdle, Amanda B., additional, and Thompson, Deborah J., additional

Published
2018
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45. Genetic risk factors for endometriosis

Author

Fung, Jenny, Sapkota, Yadav, Nyholt, Dale, Montgomery, Grant, Fung, Jenny, Sapkota, Yadav, Nyholt, Dale, and Montgomery, Grant

Abstract

Advances in genetics and genomics are driving progress in understanding genetic risk factors for endometriosis. Genome-wide association scans (GWAS) in endometriosis have identified 11 genomic regions associated with increased risk of disease. Many of the regions contain interesting candidate genes, but the risk alleles may not always act through the obvious candidates. Functional evidence to identify the causal gene(s) will require multiple steps including better mapping precision, genetic studies on gene expression and epigenetic marks, chromatin looping and functional studies. Evidence from gene expression studies in endometrium and chromatin looping experiments implicate CDC42 on chromosome 1, CDKN2B-AS1 on chromosome 9 and VEZT on chromosome 12 as likely causal genes in these regions. Confirming the causal gene(s) in these and other regions will identify the important pathways increasing risk for endometriosis and identify novel targets for interventions to improve diagnosis and treatment.

Published
2017

47. The genetic regulation of transcription in human endometrial tissue

Author

Fung, Jenny N., primary, Girling, Jane E., additional, Lukowski, Samuel W., additional, Sapkota, Yadav, additional, Wallace, Leanne, additional, Holdsworth-Carson, Sarah J., additional, Henders, Anjali K., additional, Healey, Martin, additional, Rogers, Peter A.W., additional, Powell, Joseph E., additional, and Montgomery, Grant W., additional

Published
2017
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49. Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339

Author

Powell, Joseph, Fung, Jenny, Shakhbazov, Konstantin, Sapkota, Yadav, Cloonan, Nicole, Hemani, Gibran, Hillman, Kristine, Kaufmann, Susanne, Luong, Hien, Bowdler, Lisa, Painter, Jodie, Holdsworth-Carson, Sarah, Visscher, Peter, Dinger, Marcel, Healey, Martin, Nyholt, Dale, French, Juliet, Edwards, Stacey, Rogers, Peter, Montgomery, Grant, Powell, Joseph, Fung, Jenny, Shakhbazov, Konstantin, Sapkota, Yadav, Cloonan, Nicole, Hemani, Gibran, Hillman, Kristine, Kaufmann, Susanne, Luong, Hien, Bowdler, Lisa, Painter, Jodie, Holdsworth-Carson, Sarah, Visscher, Peter, Dinger, Marcel, Healey, Martin, Nyholt, Dale, French, Juliet, Edwards, Stacey, Rogers, Peter, and Montgomery, Grant

Abstract

Free to read on publishers website Genome-wide association studies (GWAS) have identified markers within the WNT4 region on chromosome 1p36.12 showing consistent and strong association with increasing endometriosis risk. Fine mapping using sequence and imputed genotype data has revealed strong candidates for the causal SNPs within these critical regions; however, the molecular pathogenesis of these SNPs is currently unknown. We used gene expression data collected from whole blood from 862 individuals and endometrial tissue from 136 individuals from independent populations of European descent to examine the mechanism underlying endometriosis susceptibility. Association mapping results from 7,090 individuals (2,594 cases and 4,496 controls) supported rs3820282 as the SNP with the strongest association for endometriosis risk (P = 1.84 x 10-5, OR = 1.244 (1.126-1.375)). SNP rs3820282 is a significant eQTL in whole blood decreasing expression of LINC00339 (also known as HSPC157) and increasing expression of CDC42 (P = 2.0 x10-54 and 4.5x10-4 respectively). The largest effects were for two LINC00339 probes (P = 2.0 x10-54; 1.0 x 10-34). The eQTL for LINC00339 was also observed in endometrial tissue (P = 2.4 x10-8) with the same direction of effect for both whole blood and endometrial tissue. There was no evidence for eQTL effects for WNT4. Chromatin conformation capture provides evidence for risk SNPs interacting with the promoters of both LINC00339 and CDC4 and luciferase reporter assays suggest the risk SNP rs12038474 is located in a transcriptional silencer for CDC42 and the risk allele increases expression of CDC42. However, no effect of rs3820282 was observed in the LINC00339 expression in Ishikawa cells. Taken together, our results suggest that SNPs increasing endometriosis risk in this region act through CDC42, but further functional studies are required to rule out inverse regulation of both LINC00339 and CDC42.

Published
2016

50. Endometriosis risk alleles at 1p36.12 act through inverse regulation ofCDC42andLINC00339

Author

Powell, Joseph E., primary, Fung, Jenny N., additional, Shakhbazov, Konstantin, additional, Sapkota, Yadav, additional, Cloonan, Nicole, additional, Hemani, Gibran, additional, Hillman, Kristine M., additional, Kaufmann, Susanne, additional, Luong, Hien T., additional, Bowdler, Lisa, additional, Painter, Jodie N., additional, Holdsworth-Carson, Sarah J., additional, Visscher, Peter M., additional, Dinger, Marcel E., additional, Healey, Martin, additional, Nyholt, Dale R., additional, French, Juliet D., additional, Edwards, Stacey L., additional, Rogers, Peter A. W., additional, and Montgomery, Grant W., additional

Published
2016
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