Genomics of reproductive disorders

Identifying genetic risk factors for reproductive disorders

Genetic factors contribute to risk for many common diseases including reproductive disorders.

Professor Montgomery is leading a team of scientists using genetics and genomics to find factors explaining variation in reproductive traits and increasing risk for reproductive diseases. 

One of these disorders is endometriosis where tissue similar to the normal uterine lining grows and invades areas around the pelvis. It creates scar tissue that impedes the function of the organs by reducing their mobility. It causes serious pain and in many cases, infertility.

Research overview

We know little about endometriosis and like many complex diseases, the contributing environmental and genetic risk factors are like a giant jigsaw puzzle.

“Multiple genetic variants and environmental risk factors contribute incrementally to increasing risk,” Professor Montgomery said.

Professor Montgomery’s research team analyses genetic markers from across the genome to determine the genomic regions associated with risk.

The next step is to search through these genomic regions to identify the target genes in each region and how altered gene regulation increases disease risk. 

Understanding the other 50% - the environmental factors

How do you identify environmental influences on a person’s disease risk? It’s a vital piece of the puzzle because while you can’t change genetics, you can influence environmental factors. Professor Montgomery may have a solution.

“Our interaction with environmental factors can leave information on our DNA. If the environmental signature is there we could work backwards – finding the signatures and then designing experiments to determine what caused them.”

If this methodology works, it will pioneer a method for exploring many common diseases, all of which have a combination of genetic and environmental risk factors.

Caption: Genetic and genomic studies to identify target genes and functional effects of genetic variants that increase endometriosis risk.
Credit: Fung et al., DOI 10.1095/biolreprod.114.126458

Research projects

My group studies the genetic factors contributing to reproductive disorders and their functional consequences to translate knowledge gained from the genetic studies for disease biology and clinical outcomes.

Genetic factors contributing to endometriosis risk

We are analysing genetic factors contributing to endometriosis risk. Our recent studies, in collaboration with 10 international groups, identified 14 genomic regions associated with endometriosis. We are participating in the next generation of genome-wide association studies and the analysis of overlap with other diseases, including migraine, ovarian cancer, and endometrial cancer.  

Genetic regulation of gene expression

Expression of many genes is under genetic control and many genetic factors contributing to common disease are located in regulatory regions of the genome affecting gene expression. Our research aims to better understand the genetic and epigenetic regulation of gene expression especially in the endometrium. This is an important tissue, essential for establishment and maintenance of pregnancy. Expression of many genes in endometrium show dynamic changes across the menstrual cycle. We are conducting gene expression and RNA sequencing studies in endometrium to analyse genetic control of expression and association with reproductive disease and fertility.

Functional studies in endometriosis

We are conducting functional studies in endometrium and cell lines to identify the critical genes and functional consequences of the known genetic factors increasing endometriosis risk. This includes genetic effects on gene expression and alternative splicing in regions associated with the disease, studies of chromatin looping between causal variants and gene promoters and developing cell based models for genetic and functional studies in the endometrium.

Epigenetic studies

We are part of an international consortium to study epigenetic control of gene expression in endometrium and will be responsible for the joint analysis of DNA methylation data and integration with gene expression data from the same samples and with our genome-wide association results.

Research training opportunities

Research title: Genomics of reproductive disorders

Summary of research interests: We use genetic approaches to discover critical genes and pathways increasing risk for complex diseases. Follow-up genomic studies aim to understand how these genetic differences regulate gene expression and epigenetics to alter disease risk. A major focus is women’s health and the pathogenesis of endometriosis. We have identified genomic regions strongly associated with increased endometriosis risk and are analyzing gene expression and methylation patterns in the endometrium to understand how these genetic variants contribute to increased disease risk. Endometriosis is associated with other reproductive traits and diseases including ovarian cancer and we also study the mechanisms of shared genetic risk. 

Traineeships, Honours and PhD projects include

  • Analysis of gene expression in the human endometrium
  • Analysis of genomic regions associated with endometriosis risk and other diseases
  • Genetic control of methylation patterns in the endometrium and other tissues.

Contact: Professor Grant Montgomery

+61 7 3346 2054
g.montgomery@imb.uq.edu.au


Find out more about Research Training at IMB:

Research Training

Featured publications

  • Journal Article: The genetic regulation of transcription in human endometrial tissue

    Fung, Jenny N., Girling, Jane E., Lukowski, Samuel W., Sapkota, Yadav, Wallace, Leanne, Holdsworth-Carson, Sarah J., Henders, Anjali K., Healey, Martin, Rogers, Peter A. W., Powell, Joseph E. and Montgomery, Grant W. (2017) The genetic regulation of transcription in human endometrial tissue. Human Reproduction32 4: 893-904. doi:10.1093/humrep/dex006

  • Journal Article: The genetic architecture of gene expression in peripheral blood

    Lloyd-Jones, Luke R., Holloway, Alexander, McRae, Allan, Yang, Jian, Small, Kerrin, Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Dermitzakis, Manolis, Gibson, Greg, Spector, Tim, Montgomery, Grant, Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017) The genetic architecture of gene expression in peripheral blood. American Journal of Human Genetics100 2: 228-237. doi:10.1016/j.ajhg.2016.12.008

  • Journal Article: Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339

    Powell, Joseph E., Fung, Jenny N., Shakhbazov, Konstantin, Sapkota, Yadav, Cloonan, Nicole, Hemani, Gibran, Hillman, Kristine M., Kaufmann, Susanne, Luong, Hien T., Bowdler, Lisa, Painter, Jodie N., Holdsworth-Carson, Sarah J., Visscher, Peter M., Dinger, Marcel E., Healey, Martin, Nyholt, Dale R., French, Juliet D., Edwards, Stacey L., Rogers, Peter A. W. and Montgomery, Grant W. (2016) Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Human Molecular Genetics25 22: 5046-5058. doi:10.1093/hmg/ddw320

  • Journal Article: Five endometrial cancer risk loci identified through genome-wide association analysis

    Cheng, Timothy H. T., Thompson, Deborah J., O'Mara, Tracy A., Painter, Jodie N., Glubb, Dylan M., Flach, Susanne, Lewis, Annabelle, French, Juliet D., Freeman-Mills, Luke, Church, David, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Webb, Penelope M., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W., Nyholt, Dale R., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Dennis, Joe, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander, Ekici, Arif B., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Doerk, Thilo, Duerst, Matthias, Hillemanns, Peter, Runnebaum, Ingo, Amant, Frederic, Schrauwen, Stefanie, Zhao, Hui, Lambrechts, Diether, Depreeuw, Jeroen, Dowdy, Sean C., Goode, Ellen L., Fridley, Brooke L., Winham, Stacey J., Njolstad, Tormund S., Salvesen, Helga B., Trovik, Jone, Werner, Henrica M. J., Ashton, Katie, Otton, Geoffrey, Proietto, Tony, Liu, Tao, Mints, Miriam, Tham, Emma, Li, Mulin Jun, Yip, Shun H., Wang, Junwen, Bolla, Manjeet K., Michailidou, Kyriaki, Wang, Qin, Tyrer, Jonathan P., Dunlop, Malcolm, Houlston, Richard, Palles, Claire, Hopper, John L., Peto, Julian, Swerdlow, Anthony J., Burwinkel, Barbara, Brenner, Hermann, Meindl, Alfons, Brauch, Hiltrud, Lindblom, Annika, Chang-Claude, Jenny, Couch, Fergus J., Giles, Graham G., Kristensen, Vessela N., Cox, Angela, Cunningham, Julie M., Pharoah, Paul D. P., Dunning, Alison M., Edwards, Stacey L., Easton, Douglas F., Tomlinson, Ian and Spurdle, Amanda B. (2016) Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics48 6: 667-674. doi:10.1038/ng.3562

  • Journal Article: Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility

    Mbarek, Hamdi, Steinberg, Stacy, Nyholt, Dale R., Gordon, Scott D., Miller, Michael B., McRae, Allan F, Hottenga, Jouke Jan, Day, Felix R., Willemsen, Gonneke, de Geus, Eco J., Davies, Gareth E, Martin, Hilary C, Penninx, Brenda W, Jansen, Rick, McAloney, Kerrie, Vink, Jacqueline M., Kaprio, Jaakko, Plomin, Robert, Spector, Tim D., Magnusson, Patrik K., Reversade, Bruno, Harris, R. Alan, Aagaard, Kjersti, Kristjansson, Ragnar P., Olafsson, Isleifur, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Iacono, William G., Lambalk, Cornelis B, Montgomery, Grant W., McGue , Matt, Ong, Ken K., Perry, John R.B., Martin, Nicholas G., Stefansson, Hreinn, Stefansson, Kari and Boomsman, Dorret I. (2016) Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility.American Journal of Human Genetics98 5: 898-908. doi:10.1016/j.ajhg.2016.03.008

  • Journal Article: Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

    Zhu, Zhihong, Zhang, Futao, Hu, Han, Bakshi, Andrew, Robinson, Matthew R., Powell, Joseph E., Montgomery,Grant W., Goddard, Michael E., Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2016) Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nature Genetics48 5: 481-487. doi:10.1038/ng.3538

  • Journal Article: Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

    Day, Felix R., Ruth, Katherine S., Thompson, Deborah J., Lunetta, Kathryn L., Pervjakova, Natalia, Chasman, Daniel I., Stolk, Lisette, Finucane, Hilary K., Sulem, Patrick, Bulik-Sullivan, Brendan, Esko, Tonu, Johnson, Andrew D., Elks, Cathy E., Franceschini, Nora, He, Chunyan, Altmaier, Elisabeth, Brody, Jennifer A., Franke, Lude L., Huffman, Jennifer E., Keller, Margaux F., McArdle, Patrick F., Nutile, Teresa, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Smith, Jennifer A., Teumer, Alexander, Traglia, Michela, Vuckovic, Dragana, Yao, Jie, Zhao, Wei, Albrecht, Eva, Amin, Najaf, Corre, Tanguy, Hottenga, Jouke-Jan, Mangino, Massimo, Smith, Albert V., Tanaka, Toshiko, Abecasis, Goncalo R., Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Arndt, Volker, Arnold, Alice M., Barbieri, Caterina, Beckmann, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Bernstein, Leslie, Bielinski, Suzette J., Blomqvist, Carl, Boerwinkle, Eric, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Boutin, Thibaud S., Brauch, Hiltrud, Brenner, Hermann, Bruening, Thomas, Burwinkel, Barbara, Campbell, Archie, Campbell, Harry, Chanock, Stephen J., Chapman, J. Ross, Chen, Yii-Der Ida, Chenevix-Trench, Georgia, Couch, Fergus J., Coviello, Andrea D., Cox, Angela, Czene, Kamila, Darabi, Hatef, De Vivo, Immaculata, Demerath, Ellen W., Dennis, Joe, Devilee, Peter, Doerk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Eicher, John D., Fasching, Peter A., Faul, Jessica D., Figueroa, Jonine, Flesch-Janys, Dieter, Gandin, Ilaria, Garcia, Melissa E., Garcia-Closas, Montserrat, Giles, Graham G., Girotto, Giorgia G., Goldberg, Mark S., Gonzalez-Neira, Anna, Goodarzi, Mark O., Grove, Megan L., Gudbjartsson, Daniel F., Guenel, Pascal, Guo, Xiuqing, Haiman, Christopher A., Hall, Per, Hamann, Ute, Henderson, Brian E., Hocking, Lynne J., Hofman, Albert, Homuth, Georg, Hooning, Maartje J., Hopper, John L., Hu, Frank B., Huang, Jinyan, Humphreys, Keith, Hunter, David J., Jakubowska, Anna, Jones, Samuel E., Kabisch, Maria, Karasik, David, Knight, Julia A., Kolcic, Ivana, Kooperberg, Charles, Kosma, Veli-Matti, Kriebel, Jennifer, Kristensen, Vessela, Lambrechts, Diether, Langenberg, Claudia, Li, Jingmei, Li, Xin, Lindstroem, Sara, Liu, Yongmei, Luan, Jian'an, Lubinski, Jan, Maegi, Reedik, Mannermaa, Arto, Manz, Judith, Margolin, Sara, Marten, Jonathan, Martin, Nicholas G., Masciullo, Corrado, Meindl, Alfons, Michailidou, Kyriaki, Mihailov, Evelin, Milani, Lili, Milne, Roger L., Mueller-Nurasyid, Martina, Nalls, Michael, Neale, Benjamin M., Nevanlinna, Heli, Neven, Patrick, Newman, Anne B., Nordestgaard, Borge G., Olson, Janet E., Padmanabhan, Sandosh, Peterlongo, Paolo, Peters, Ulrike, Petersmann, Astrid, Peto, Julian, Pharoah, Paul D. P., Pirastu, Nicola N., Pirie, Ailith, Pistis, Giorgio, Polasek, Ozren, Porteous, David, Psaty, Bruce M., Pylkas, Katri, Radice, Paolo, Raffel, Leslie J., Rivadeneira, Fernando, Rudan, Igor, Rudolph, Anja, Ruggiero, Daniela, Sala, Cinzia F., Sanna, Serena, Sawyer, Elinor J., Schlessinger, David, Schmidt, Marjanka K., Schmidt, Frank, Schmutzler, Rita K., Schoemaker, Minouk J., Scott, Robert A., Seynaeve, Caroline M., Simard, Jacques, Sorice, Rossella, Southey, Melissa C., Stoeckl, Doris, Strauch, Konstantin, Swerdlow, Anthony, Taylor, Kent D., Thorsteinsdottir, Unnur, Toland, Amanda E., Tomlinson, Ian, Truong, Therese, Tryggvadottir, Laufey, Turner, Stephen T., Vozzi, Diego, Wang, Qin, Wellons, Melissa, Willemsen, Gonneke, Wilson, James F., Winqvist, Robert, Wolffenbuttel, Bruce B. H. R., Wright, Alan F., Yannoukakos, Drakoulis, Zemunik, Tatijana, Zheng, Wei, Zygmunt, Marek, Bergmann, Sven, Boomsma, Dorret I., Buring, Julie E., Ferrucci, Luigi, Montgomery, Grant W., Gudnason, Vilmundur, Spector, Tim D., van Duijn, Cornelia M., Alizadeh, Behrooz Z., Ciullo, Marina, Crisponi, Laura, Easton, Douglas F., Gasparini, Paolo P., Gieger, Christian, Harris, Tamara B., Hayward, Caroline, Kardia, Sharon L. R., Kraft, Peter, McKnight, Barbara, Metspalu, Andres, Morrison, Alanna C., Reiner, Alex P., Ridker, Paul M., Rotter, Jerome I., Toniolo, Daniela, Uitterlinden, Andre G., Ulivi, Sheila, Voelzke, Henry, Wareham, Nicholas J., Weir, David R., Yerges-Armstrong, Laura M., Price, Alkes L., Stefansson, Kari, Visser, Jenny A., Ong, Ken K., Chang-Claude, Jenny, Murabito, Joanne M., Perry, John R. B. and Murray, Anna (2015) Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nature Genetics47 11: 1294-1305. doi:10.1038/ng.3412

  • Journal Article: Functional evaluation of genetic variants associated with endometriosis near GREB1

    Fung, Jenny N., Holdsworth-Carson, Sarah J., Sapkota, Yadav, Zhao, Zhen Zhen, Jones, Lincoln, Girling, Jane E., Paiva, Premila, Healey, Martin, Nyholt, Dale R., Rogers, Peter A. W. and Montgomery, Grant W. (2015) Functional evaluation of genetic variants associated with endometriosis near GREB1. Human Reproduction30 5: 1263-1275. doi:10.1093/humrep/dev051

  • Journal Article: Identifying the biological basis of GWAS hits for endometriosis

    Fung, Jenny N., Rogers, Peter A. W. and Montgomery, Grant W. (2015) Identifying the biological basis of GWAS hits for endometriosis. Biology of Reproduction92 4: . doi:10.1095/biolreprod.114.126458

  • Journal Article: Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

    Painter J.N., O'Mara T.A., Batra J., Cheng T., Lose F.A., Dennis J., Michailidou K., Tyrer J.P., Ahmed S., Ferguson K., Healey C.S., Kaufmann S., Hillman K.M., Walpole C., Moya L., Pollock P., Jones A., Howarth K., Martin L., Gorman M., Hodgson S., De Polanco M.M.E., Sans M., Carracedo A., Castellvi-Bel S., Rojas-Martinez A., Santos E., Teixeira M.R., Carvajal-Carmona L., Shu X.-O., Long J., Zheng W., Xiang Y.-B., Montgomery G.W., Webb P.M., Scott R.J., McEvoy M., Attia J., Holliday E., Martin N.G., Nyholt D.R., Henders A.K., Fasching P.A., Hein A., Beckmann M.W., Renner S.P., Dork T., Hillemanns P., Durst M., Runnebaum I., Lambrechts D., Coenegrachts L., Schrauwen S., Amant F., Winterhoff B., Dowdy S.C., Goode E.L., Teoman A., Salvesen H.B., Trovik J., Njolstad T.S., Werner H.M.J., Ashton K., Proietto T., Otton G., Tzortzatos G., Mints M., Tham E., Hall P., Czene K., Liu J., Li J., Hopper J.L., Southey M.C., Ekici A.B., Ruebner M., Johnson N., Peto J., Burwinkel B., Marme F., Brenner H., Dieffenbach A.K., Meindl A., Brauch H., Lindblom A., Depreeuw J., Moisse M., Chang-Claude J., Rudolph A., Couch F.J., Olson J.E., Giles G.G., Bruinsma F., Cunningham J.M., Fridley B.L., Borresen-Dale A.L., Kristensen V.N., Cox A., Swerdlow A.J., Orr N., Bolla M.K., Wang Q., Weber R.P., Chen Z., Shah M., French J.D., Pharoah P.D.P., Dunning A.M., Tomlinson I., Easton D.F., Edwards S.L., Thompson D.J. and Spurdle A.B. (2015) Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics24 5: 1478-1492. doi:10.1093/hmg/ddu552

  • Journal Article: Genetic and environmental exposures constrain epigenetic drift over the human life course

    Shah, Sonia, McRae, Allan F., Marioni, Riccardo E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Murphy, Lee, Martin, Nicholas G., Montgomery, Grant W., Starr, John M., Wray, Naomi R., Deary, Ian J. and Visscher, Peter M. (2014) Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Research24 11: 1725-1733. doi:10.1101/gr.176933.114

  • Journal Article: Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

    Perry, John R. B., Day, Felix, Elks, Cathy E., Sulem, Patrick, Thompson, Deborah J., Ferreira, Teresa, He, Chunyan, Chasman, Daniel I., Esko, Toenu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., McMahon, George, Nolte, Ilja M., Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Tsernikova, Natalia, Tikkanen, Emmi, Ulivi, Sheila, Wagner, Erin K., Amin, Najaf, Bierut, Laura J., Byrne, Enda M., Hottenga, Jouke-Jan, Koller, Daniel L., Mangino, Massimo, Pers, Tune H., Yerges-Armstrong, Laura M., Zhao, Jing Hua, Andrulis, Irene L., Anton-Culver, Hoda, Atsma, Femke, Bandinelli, Stefania, Beckmann, Matthias W., Benitez, Javier, Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Buring, Julie E., Chang-Claude, Jenny, Chanock, Stephen, Chen, Jinhui, Chenevix-Trench, Georgia, Collee, J. Margriet, Couch, Fergus J., Couper, David, Coviello, Andrea D., Cox, Angela, Czene, Kamila, D'adamo, Adamo Pio, Smith, George Davey, De Vivo, Immaculata, Demerath, Ellen W., Dennis, Joe, Devilee, Peter, Dieffenbach, Aida K., Dunning, Alison M., Eiriksdottir, Gudny, Eriksson, Johan G., Fasching, Peter A., Ferrucci, Luigi, Flesch-Janys, Dieter, Flyger, Henrik, Foroud, Tatiana, Franke, Lude, Garcia, Melissa E., Garcia-Closas, Montserrat, Geller, Frank, de Geus, Eco E. J., Giles, Graham G., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Guenel, Pascal, Guo, Suiqun, Hall, Per, Hamann, Ute, Haring, Robin, Hartman, Catharina A., Heath, AndrewC., Hofman, Albert, Hooning, Maartje J., Hopper, John L., Hu, Frank B., Hunter, David J., Karasik, David, Kiel, Douglas P., Knight, Julia A., Kosma, Veli-Matti, Kutalik, Zoltan, Lai, Sandra, Lambrechts, Diether, Lindblom, Annika, Maegi, Reedik, Magnusson, Patrik K., Mannermaa, Arto, Martin, Nicholas G., Masson, Gisli, McArdle, Patrick F., McArdle, Wendy L., Melbye, Mads, Michailidou, Kyriaki, Mihailov, Evelin, Milani, Lili, Milne, Roger L., Nevanlinna, Heli, Neven, Patrick, Nohr, Ellen A., Oldehinkel, Albertine J., Oostra, Ben A., Palotie, Aarno, Peacock, Munro, Pedersen, Nancy L., Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Postma, Dirkje S., Pouta, Anneli, Pylkaes, Katri, Radice, Paolo, Ring, Susan, Rivadeneira, Fernando, Robino, Antonietta, Rose, Lynda M., Rudolph, Anja, Salomaa, Veikko, Sanna, Serena, Schlessinger, David, Schmidt, Marjanka K., Southey, Mellissa C., Sovio, Ulla, Stampfer, Meir J., Stoeckl, Doris, Storniolo, Anna M., Timpson, Nicholas J., Tyrer, Jonathan, Visser, Jenny A., Vollenweider, Peter, Voelzke, Henry, Waeber, Gerard, Waldenberger, Melanie, Wallaschofski, Henri, Wang, Qin, Willemsen, Gonneke, Winqvist, Robert, Wolffenbuttel, Bruce H. R., Wright, Margaret J., Australian Ovarian Cancer Study, The GENICA Network, kConFab, The LifeLines Cohort Study, The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Boomsma, Dorret I., Econs, Michael J., Khaw, Kay-Tee, Loos, Ruth J. F., McCarthy, Mark I., Montgomery, Grant W., Rice, John P., Streeten, Elizabeth A., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Alizadeh, Behrooz Z., Bergmann, Sven, Boerwinkle, Eric, Boyd, Heather A., Crisponi, Laura, Gasparini, Paolo, Gieger, Christian, Harris, Tamara B., Ingelsson, Erik, Jaervelin, Marjo-Riitta, Kraft, Peter, Lawlor, Debbie, Metspalu, Andres, Pennell, Craig E., Ridker, Paul M., Snieder, Harold, Sorensen, Thorkild I. A., Spector, Tim D., Strachan, David P., Uitterlinden, Andre G., Wareham, Nicholas J., Widen, Elisabeth, Zygmunt, Marek, Murray, Anna, Easton, Douglas F., Stefansson, Kari, Murabito, Joanne M., Ong, Ken K. and the ReproGen Consortium (2014) Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature514 7520: 92-97. doi:10.1038/nature13545

  • Journal Article: Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets

    Rahmioglu, Nilufer, Nyholt, Dale R., Morris, Andrew P., Missmer, Stacey A., Montgomery, Grant W. and Zondervan, Krina T. (2014) Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets. Human Reproduction Update20 5: 702-716. doi:10.1093/humupd/dmu015

  • Journal Article: Contribution of genetic variation to transgenerational inheritance of DNA methylation

    McRae, Allan F., Powell, Joseph E., Henders, Anjali K., Bowdler, Lisa, Hemani, Gibran, Shah, Sonia, Painter, Jodie N., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2014) Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biology15 5: 1-10. doi:10.1186/gb-2014-15-5-r73

  • Journal Article: Systematic identification of trans eQTLs as putative drivers of known disease associations

    Westra, Harm-Jan, Peters, Marjolein J., Esko, Tonu, Yaghootkar, Hanieh, Schurmann, Claudia, Kettunen, Johannes, Christiansen, Mark W., Fairfax, Benjamin P., Schramm, Katharina, Powell, Joseph E., Zhernakova, Alexandra, Zhernakova, Daria V., Veldink, Jan H., Van den Berg, Leonard H., Karjalainen, Juha, Withoff, Sebo, Uitterlinden, Andre G., Hofman, Albert, Rivadeneira, Fernando, Hoen, Peter A. C't, Reinmaa, Eva, Fischer, Krista, Nelis, Mari, Milani, Lili, Melzer, David, Ferrucci, Luigi, Singleton, Andrew B., Hernandez, Dena G., Nalls, Michael A., Homuth, Georg, Nauck, Matthias, Radke, Doerte, Voelker, Uwe, Perola, Markus, Salomaa, Veikko, Brody, Jennifer, Suchy-Dicey, Astrid, Gharib, Sina A., Enquobahrie, Daniel A., Lumley, Thomas, Montgomery, Grant W., Makino, Seiko, Prokisch, Holger, Herder, Christian, Roden, Michael, Grallert, Harald, Meitinger, Thomas, Strauch, Konstantin, Li, Yang, Jansen, Ritsert C., Visscher, Peter M., Knight, Julian C., Psaty, Bruce M., Ripatti, Samuli, Teumer, Alexander, Frayling, Timothy M., Metspalu, Andres, van Meurs, Joyce B. J. and Franke, Lude (2013) Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics45 10: 1238-U195. doi:10.1038/ng.2756

  • Journal Article: Genome-wide association meta-analysis identifies new endometriosis risk loci

    Nyholt, Dale R., Low, Siew-Kee, Anderson, Carl A., Painter, Jodie N., Uno, Satoko, Morris, Andrew P., MacGregor, Stuart, Gordon, Scott D., Henders, Anjali K., Martin, Nicholas G., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Kennedy, Stephen H., Treloar, Susan A., Missmer, Stacey A., Adachi, Sosuke, Tanaka, Kenichi, Nakamura, Yusuke, Zondervan, Krina T., Zembutsu, Hitoshi and Montgomery, Grant W. (2012) Genome-wide association meta-analysis identifies new endometriosis risk loci. Nature Genetics44 12: 1355-1359. doi:10.1038/ng.2445

  • Journal Article: Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent

    Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Wright, Margaret J., Martin, Nicholas G., Dermitzakis, Emmanouil T., Montgomery, Grant W. and Visscher, Peter M. (2012) Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Research22 456-466. doi:10.1101/gr.126540.111

  • Journal Article: Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

    Stolk L., Perry J.R.B., Chasman D.I., He C., Mangino M., Sulem P., Barbalic M., Broer L., Byrne E.M., Ernst F., Esko T., Franceschini N., Gudbjartsson D.F., Hottenga J.-J., Kraft P., McArdle P.F., Porcu E., Shin S.-Y., Smith A.V., Van Wingerden S., Zhai G., Zhuang W.V., Albrecht E., Alizadeh B.Z., Aspelund T., Bandinelli S., Lauc L.B., Beckmann J.S., Boban M., Boerwinkle E., Broekmans F.J., Burri A., Campbell H., Chanock S.J., Chen C., Cornelis M.C., Corre T., Coviello A.D., D'Adamo P., Davies G., De Faire U., De Geus E.J.C., Deary I.J., Dedoussis G.V.Z., Deloukas P., Ebrahim S., Eiriksdottir G., Emilsson V., Eriksson J.G., Fauser B.C.J.M., Ferreli L., Ferrucci L., Fischer K., Folsom A.R., Garcia M.E., Gasparini P., Gieger C., Glazer N., Grobbee D.E., Hall P., Haller T., Hankinson S.E., Hass M., Hayward C., Heath A.C., Hofman A., Ingelsson E., Janssens A.C.J.W., Johnson A.D., Karasik D., Kardia S.L.R., Keyzer J., Kiel D.P., Kolcic I., Kutalik Z., Lahti J., Lai S., Laisk T., Laven J.S.E., Lawlor D.A., Liu J., Lopez L.M., Louwers Y.V., Magnusson P.K.E., Marongiu M., Martin N.G., Klaric I.M., Masciullo C., McKnight B., Medland S.E., Melzer D., Mooser V., Navarro P., Newman A.B., Nyholt D.R., Onland-Moret N.C., Palotie A., Pare G., Parker A.N., Pedersen N.L., Peeters P.H.M., Pistis G., Plump A.S., Polasek O., Pop V.J.M., Psaty B.M., R Currency Signikkonen K., Rehnberg E., Rotter J.I., Rudan I., Sala C., Salumets A., Scuteri A., Singleton A., Smith J.A., Snieder H., Soranzo N., Stacey S.N., Starr J.M., Stathopoulou M.G., Stirrups K., Stolk R.P., Styrkarsdottir U., Sun Y.V., Tenesa A., Thorand B., Toniolo D., Tryggvadottir L., Tsui K., Ulivi S., Van Dam R.M., Van Der Schouw Y.T., Van Gils C.H., Van Nierop P., Vink J.M., Visscher P.M., Voorhuis M., Waeber G., Wallaschofski H., Wichmann H.E., Widen E., Wijnands-Van Gent C.J.M., Willemsen G., Wilson J.F., Wolffenbuttel B.H.R., Wright A.F., Yerges-Armstrong L.M., Zemunik T., Zgaga L., Zillikens M.C., Zygmunt M., Arnold A.M., Boomsma D.I., Buring J.E., Crisponi L., Demerath E.W., Gudnason V., Harris T.B., Hu F.B., Hunter D.J., Launer L.J., Metspalu A., Montgomery G.W., Oostra B.A., Ridker P.M., Sanna S., Schlessinger D., Spector T.D., Stefansson K., Streeten E.A., Thorsteinsdottir U., Uda M., Uitterlinden A.G., Van Duijn C.M., Volzke H., Murray A., Murabito J.M., Visser J.A. and Lunetta K.L. (2012) Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nature Genetics44 3: 260-268. doi:10.1038/ng.1051

  • Journal Article: Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

    Painter, JN, Anderson, CA, Nyholt, DR, Macgregor, S, Lin, JH, Lee, SH, Lambert, A, Zhao, ZZ, Roseman, F, Guo, Q, Gordon, SD, Wallace, L, Henders, AK, Visscher, PM, Kraft, P, Martin, NG, Morris, AP, Treloar, SA, Kennedy, SH, Missmer, SA, Montgomery, GW and Zondervan, KT (2011) Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nature Genetics43 1: 51-54. doi:10.1038/ng.731

View all Publications

Engagement and impact

Professor Montgomery has made substantial contributions to the worldwide effort to map genomic regions contributing to risk for complex traits and diseases, including endometriosis, age at menarche and menopause, cancers of the reproductive tract, melanoma and inflammatory bowel disease. He is conducting systems genetics and functional studies to identify the genes and pathways affected by these genetic risk factors.

Partners and collaborators

  • Professor Peter Rogers, Professor of Women’s Health Research, Department of Obstetrics and Gynaecology, University of Melbourne
  • Professor Nick Martin, QIMR Berghofer Medical Research Institute
  • International Endometriosis Genetics Consortium
  • Consortium on Epigenetic Control of Gene Expression on Endometrium
  • ReproGen Consortium, an international network of investigators interested in better understanding the genetic basis of reproductive ageing
  • GenoMEL, the international consortium on the genetics of melanoma
  • QENDO (Endometriosis Association Qld Inc.)

     

News

Pages

Prof Grant Montgomery

Professor Grant Montgomery

Group Leader, Genomics of Development and Disease Division
Director, UQ Project Three Billion

  +61 7 3346 2612  
  g.montgomery1@uq.edu.au
  IMB Researcher Profile
  UQ Project Three Billion


Partner with Professor Montgomery

Support Professor Montgomery's research

  Group Leader

  • Professor Grant Montgomery

    Director, UQ Genome Innovation Hub
    Professorial Research Fellow - GL
    Institute for Molecular Bioscience
    Joint Appointment
    Queensland Brain Institute

  Researchers