McGill.CA / Genetic epidemiology

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Selected Publications

Last Updated: 03/11/2021

  1. Zhou S, Butler-Laporte G, Nakanishi T, Morrison D, Afilalo J, Afilalo M, Laurent L, Pietzner M, Kerrison N, Zhao K, Brunet-Ratnasingham E, Henry D, Kimchi N, Afrasiabi Z, Rezk N, Bouab M, Petitjean L, Guzman C, Xue X , Tselios C, Vulesevic B, Adeleye O, Abdullah T, Almamlouk N, Chen Y, Chassé M, Durand M , Paterson C, Normark J , Frithiof R, Lipcsey M, Hultström M, Greenwood CMT, Zeberg H, Langenberg C, Thysell E, Pollak M, Mooser V ,Forgetta V, Kaufmann DE, Richards JB.(2021) A Neanderthal OAS1 Isoform Protects European Ancestry Individuals Against COVID-19 Susceptibility and Severity. Nature Medicine. 2021 Feb 25. doi:10.1038/s41591-021-01281-1. 
  2. V Forgetta, J Keller-Baruch, M Forest, A Durand, S Bhatnagar, JP Kemp, M Nethander, D Evans, JA Morris, DP Kiel, F Rivadeneira, H Johansson, NC Harvey, D Mellström, M Karlsson, C Cooper, DM Evans, R Clarke, JA Kanis, E Orwoll, EV McCloskey, C Ohlsson, J Pineau, WD Leslie, CMT Greenwood, JB Richards.(2020) Development of a Polygenic Risk Score to Improve Screening for Fracture Risk: A Genetic Risk Prediction Study. PLoS Med. 2020 Jul 2;17(7):e1003152. doi: 10.1371/journal.pmed.1003152. eCollection 2020 Jul.
  3. Manousaki D, Mitchell R, Dudding T, Haworth S, Harroud A, Forgetta V, Shah R, Langenberg C, Timpson NJ, Richards JB.(2020) Genome-wide association study for vitamin D levels reveals 69 independent loci. American Journal of Human Genetics. 2020 Mar 5;106(3):327-337. doi: 10.1016/j.ajhg.2020.01.017. Epub 2020 Feb 13.
  4. Cerani A, Zhou S, Forgetta V, Morris JA, Trajanoska K, Rivadeneira F, Larsson SC, Michaëlsson K, Richards JB.Genetic predisposition to increased serum calcium, bone mineral density and the risk of fracture in individuals with normal calcium levels: A Mendelian randomization study. BMJ. 2019 Aug 1;366:l4410. doi: 10.1136/bmj.l441
  5. Harroud A, Morris JA, Forgetta V, Mitchell R, Smith GD, Sawcer S, Richards JB. Effect of age at puberty on risk of multiple sclerosis: A Mendelian randomization study. Neurology , 2019 Apr 16. 92(16):e1803-e1810. doi: 10.1212/WNL.0000000000007325. Highlighted with an Editorial: “Leveraging human genetics to inform intervention strategies for multiple sclerosis.” Neurology, 2019.”
  6. J A Morris,* J P Kemp,* S E Youlten, L Laurent, J G Logan, R Chai, NA Vulpescu, V Forgetta, A Kleinman, S Mohanty, CM Sergio, J Quinn, L Nguyen-Yamamoto, A Luco, J Vijay, M Simon, A Pramatarova, C Medina-Gomez, K Trajanoska, EJ Ghirardello, NC Butterfield, KF Curry, VD Leitch, PC Sparkes, A Adoum, NS Mannan, D Komla-Ebri, AS Pollard, HF Dewhurst, T Hassell, MG Beltejar, DJ Adams, SM Vaillancourt, S Kaptoge, P Baldock, C Cooper, J Reeve, E Ntzani, E Evangelou, C Ohlsson, D Karasik, F Rivadeneira, DP Kiel, JH Tobias, CL Gregson, NC Harvey, E Grundberg, D Goltzman, DJ Adams, CJ Lelliott, DA Hinds, CL Ackert-Bicknell, Y Hsu, MT Maurano, PI Croucher, GR Williams, JD Bassett, DM Evans,* JB Richards*. An Atlas of Human and Murine Genetic Influences on Osteoporosis. Nature Genetics. 2019 Feb;51(2):258-266. doi: 10.1038/s41588-018-0302-x. Epub 2018 Dec 31.
  7. K Trajanoska,** JA Morris,** L Oei,** H Zheng,** V Forgetta, A Leong, O Ahmad, C Laurin, L Mokry, S Ross , C Elks, J Bowden, N Warrington, A Kleinman, S Willems, D Wright, F Day, K Ruth , A Murray, K Tsilidis, C Ackert-Bicknell, J Bassett, B van der Eerden, K Gautvik, S Reppe, G Williams, C Medina-Gomez, K Estrada, N Amin, J Bis, S Breda, D Chasman, S Demissie, A Enneman, Y Hsu, T Ingvarsson, M Kähönen, C Kammerer, A LaCroix, G Li, C Liu, Y Liu, M Lorentzon, R Mägi, E Mihalov, L Milani, A Moayyeri, C Nielson, P Sham, G Sigurdsson, K Siggeirsdottir, K Stefansson, S Trompet, G Thorleifsson, L Vandenput, N van der Velde, J Viikari, S Xiao, J Zhao , K Åkesson , M Andersen, B Atanasovska, S Balcells, J Eriksson, M Formosa , C Garcia-Ibarbia, N Garcia-Giralt, J Gonzalez-Macias, G Hallmans, M Karlsson, R Khusainova, B Kim, T Kwok, S Lee, P Leung, H Mallmin, l Masi, B Melin, S Mencej Bedrac, M Nethander, J Olmos, K Panagoula , J Prezelj, N van Schoor , O Svensson, P Szulc, C Valero, J Woo, M Brandi, S Cheng, R Chapurlat, C Christiansen, C Cooper , G Dedoussis, J Eisman, M Frost, S Giroux, D Grinberg, D Goltzman, L Hocking , W van Hul, J Koh, L Rejnmark, J Jensen, B Langdahl, J Lewis, R Lorenc, E Khusnutdinova, J Marc, F McGuigan, D Mellström, K Michaelsson, X Nogues , P Nordström, B Obermayer-Pietsch , U Pettersson-Kymmer , R Prince, J Reeve, D Reid , J Riancho, F Rousseau, N Tang, A Xuereb-Anastasi, L William, D Evans, S Cummings, J Cauley, C van Duijn, M Brown, E Duncan, L de Groot, T Esko, V Gudnason, T Harris, R Jackson, J Jukema, A Ikram, D Karasik, S Kaptoge, K Khaw, A Kung, T Lehtimäki, P Lips, R Luben, A Metspalu, L Lyytikäinen, J Van Meurs, R Minster, E Orwoll, E Oei, B Psaty, O Raitakari, S Ralston, P Ridker, J Robbins, A Smith, T Spector, U Styrkarsdottir, G Tranah, U Thorsteinsdottir, A Uitterlinden, J Zmuda, C Zillikens, E Ntzani, E Evangelou, J Ioannidis, J Perry, D Hinds, J Tung, R Scott, D Evans,** D Kiel,** C Ohlsson,** JB Richards,** F Rivadeneira** Assessment of the genetic and clinical determinants of fracture risk: a Mendelian randomization approach.BMJ 2018 Aug 29 ;362:k3225. doi:10.1136/bmj.k3225.

  8. N Timpson, C Greenwood, N Soranzo, DJ Lawson, JB Richards. Genetic architecture: The shape of genetic contribution to human traits and disease. Nature Reviews Genetics. Epub ahead of print 2017 Dec 11.

  9. JP Kemp*, JA Morris*, C Medina-Gomez*, V Forgetta, NM Warrington, SE Youlten, J Zheng, CL Gregson, E Grundberg, K Trajanoska, JG Logan, AS Pollard, PC Sparks, EJ Ghirardello, R Allen, VD Leitch, NC Butterfield, DSK Komla-Ebri, A-T Adoum, KF Curry, JK White, F Kussy, KM Greenlaw, C Xu, NC Harvey, C Cooper, DJ Adams, CMT Greenwood, MT Maurano, S Kaptoge, F Rivadeneira, JH Tobias, PI Croucher, CL Ackert-Bicknell, JHD Bassett, GR Williams, JB Richards†, DM Evans†. Genome-wide Association Study of Heel Bone Mineral Density Identifies 153 Novel Loci and Implicates Functional Involvement of GPC6 in Osteoporosis. Nature Genetics. 2017 Oct;49(10):1468-1475. doi: 10.1038/ng.3949. Epub 2017 Sep 4.

  10. D Manousaki*, T Dudding*, S Haworth*, YH Hsu*, CT Liu*, C Medina-Gómez*, T Voortman*, N van der Velde*, H Melhus*, C Robinson-Cohen*, DL Cousminer*, M Nethander*, L Vandenput*, R Noordam*, V Forgetta, CMT Greenwood, ML Biggs, BM Psaty, JI Rotter, BS Zemel, JA Mitchell, B Taylor, M Lorentzon, M Karlsson, VVW Jaddoe, H Tiemeier, N Campos-Obando, OH Franco, AG Utterlinden, L Broer, NM van Schoor, AC Ham, M Arfan Ikram, D Karasik, R de Mutsert, FR Rosendaal, M den Heijer, TJ  Wang, L Lind†, ES Orwoll†, DO Mook-Kanamori†, K Michaëlsson†, B Kestenbaum†, C Ohlsson†, D Mellström†, LCPGM de Groot†, SFA Grant†, DP Kiel†, MC Zillikens†, F Rivadeneira†, S Sawcer†, NJ Timpson†, and JB Richards†. (2017). Low Frequency Synonymous Coding Variation in CYP2R1 has Large Effects on Vitamin D Level and Risk of Multiple Sclerosis. American Journal of Human Genetics. 101(2):227-238.

  11. D Manousaki, JW Kent Jr., K Haack  S Zhou, P Xie, CM Greenwood, P Brassard, DE Newman, S Cole, JG Umans, G Rouleau, AG Comuzzie, JB Richards. (2016). Towards Precision Medicine: TBC1D4 Disruption is Common in The Inuit and Leads to Under-Diagnosis of Type 2 Diabetes. Diabetes Care. 39(11):1889-1895.

  12. Manousaki D, Mokry LE, Ross S, Goltzman D, Richards JB. (2016). Mendelian Randomization Studies do not Support a Role for Vitamin D in Coronary Artery Disease. Circulation: Cardiovascular Genetics. 9(4):349-56.

  13. Mokry LE, Ross S, Timpson NJ, Sawcer S, Davey Smith G, Richards JB. (2015). Obesity and Multiple Sclerosis: A Mendelian Randomization Study. PLOS Medicine. 13(6): e1002053.

  14. Zheng HF*, Forgetta V*, Hsu Y, * Estrada K, * Rosello-Diez A,* Leo P,* Dahia C,* Park-Min K,* Tobias J,* Kooperberg C,* Kleinman A, Styrkarsdottir U, Liu C, Uggla C, Evans D, Nielson C, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou W, Mokry L, Moayyeri A, Claussnitzer M, Cheng C, Cheung W, ́mez C, Ge B, Chen S, Choi K, Oei L, Fraser J, Kraaij R, Hibbs M, Gregson C, Paquette D, Hofman A, Wibom C, Tranah G, Marshall M, Gardiner B, Cremin K, Auer P, Hsu L, Ring S, Tung J, Thorleifsson G, Enneman A, Schoor N, Groot L, Velde N, Melin B, Kemp J, Christiansen C, Sayers A, Zhou Y, Calderari S, Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden A, Williams S, Farber C, Grinberg D, LaCroix A, Haessler J, Chasman D, Giulianini F, Rose L, Ridker P, Eisman J, Nguyen T, Center J, Nogues X, Garcia-Giralt N, Launer L, Gudnason V, ̈m D, Vandenput L, Amin N, Duijn C, Karlsson M, Ljunggren O, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussie`re J, Arp P, Koromani F, Prince R, Lewis J, Langdahl B, Hermann A, Jensen J, Kaptoge S, Khaw K, Reeve J, Formosa M, Xuereb-Anastasi A, Kesson K, McGuigan F, Garg G, Olmos J, Zarrabeitia M, Riancho J, Ralston S, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll E, Karasik D, Davey-Smith G, Consortium A, Smith A, Siggeirsdottir K, Harris T, Zillikens M, Meurs J, Thorsteinsdottir U, Maurano M, Timpson N, Soranzo N, Durbin R, Wilson S, Ntzani E, Brown M, Stefansson K, Hinds D, Spector T, Cupples L, Ohlsson C, Greenwood CMT, UK10K Consortium, Jackson R,** Rowe D,** Loomis C,** Evans D,** Ackert-Bicknell C,** Joyner A,** Duncan E,** Kiel D,** Rivadeneira F,** Richards JB**. (2015). Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 526(7571):112-7.

  15. Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CMT, Timpson NJ, Durbin R, Soranzo N. (2015). The UK10K project identifies rare variants in health and disease. Nature. 526(7571):82-90.

  16. Mokry LE, Ross S, Ahmad OS,  Forgetta V, Davey-Smith G, Leong A, Greenwood CMT, Thanassoulis G, Richards JB. (2015). Vitamin D and Risk of Multiple Sclerosis: A Mendelian Randomization Study. PLOS Medicine. 12: e1001866.

  17. A Leong, W Rehman, Z Dastani, CM Greenwood, N Timpson, L Langsetmo, C Berger, METASTROKE, L Fu, BYL Wong, S Malik, R Malik, DEC Cole D Goltzman, JB Richards. (2014). The causal effect of Vitamin D binding protein (DBP) levels on calcemic and cardiometablic diseases: A Mendelian randomization study. PLOS Medicine. 11(10):e1001751. This paper received an Editorial from PLOS Medicine.

  18. R Lui, A Montpetit, M Rousseau, SYM Wu, CMT Greenwood, TD Spector, M Pollak, C Polychronakos, JB Richards. (2014). Somatic Point Mutations Occurring in Early Development: A Monozygotic Twin Study. Journal of Medical Genetics. 51(1):28-34. This article has been recommended by The Faculty of 1000.

  19. J. Brent Richards, Hou-Feng Zheng & Tim D. Spector. (2012) Genetics of osteoporosis from genome-wide association studies: advances and challenges.  Nature Reviews Genetics. 13, 576-588.

  20. Hou-Feng Zheng*, Jon H. Tobias*, Emma Duncan*, David M. Evans*, Joel Eriksson, Lavinia Paternoster, Laura M. Yerges-Armstrong, Terho Lehtima, Ulrica Bergstrom,Mika Kahonen, Paul J. Leo, Olli Raitakari, Marika Laaksonen, Geoffrey C. Nicholson,Jorma Viikari, Martin Ladouceur, Leo-Pekka Lyytikainen, Carolina Medina-Gomez,Fernando Rivadeneira, Richard L. Prince, Harri Sievanen, William D. Leslie, Dan Mellstrom,John A. Eisman, Sofia Moverare-Skrtic, David Goltzman, David A. Hanley, Graeme Jones,Beate St. Pourcain, Yongjun Xiao, Nicholas J. Timpson, George Davey Smith, Ian R. Reid,Susan M. Ring, Philip N. Sambrook, Magnus Karlsson, Elaine M. Dennison, John P. Kemp, Patrick Danoy, Adrian Sayers, Scott G. Wilson, Maria Nethander, Eugene McCloskey, Liesbeth Vandenput, Richard Eastell, Jeff Liu, Tim Spector, Braxton D. Mitchell,Elizabeth A. Streeten, Robert Brommage, Ulrika Pettersson-Kymmer, Matthew A. Brown, Claes Ohlsson*, J. Brent Richards*, Mattias Lorentzon*. (2012), WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk. PLoS Genetics 8(7): e1002745. doi:10.1371/journal.pgen.1002745

  21. Z Dastani,* M-F Hivert,* N Timpson,* JRB Perry,* X Yuan,* RA Scott,* P Henneman,* I M. Heid,* JR Kizer,* L-P Lyytikainen,* C Fuchsberger,* T Tanaka, A P Morris, K Small, A Isaacs, M Beekman, S Coassin, K Lohman, L Qi, S Kanoni, J S Pankow, H-W Uh, Y Wu, A Bidulescu, L J Rasmussen-Torvik, CMT Greenwood, M Ladouceur, J Grimsby, AK Manning, C-T Liu, J Kooner, VE Mooser, P Vollenweider,  KA Kapur, J Chambers, NJ Wareham, C Langenberg, R Frants, K Willems-vanDijk, BA Oostra, S M Willems, C Lamina, Thomas Winkler, BM Psaty, RP Tracy, J Brody, I Chen, J Viikari, M Kähönen, PP Pramstaller,  M Evans, B St Pourcain, N Sattar, A Wood, S Bandinelli, Olga D. Carlson, JM Egan, S Böhringer, D van Heemst, L Kedenko, K Kristiansson, M-L Nuotio, B-M Loo, T Harris, M Garcia, A Kanaya, M Haun, N Klopp, HE Wichmann, P Deloukas, E Katsareli, DJ Couper, BB Duncan, M Kloppenburg, LS Adair, JB Borja, DIAGRAM+ Consortium, MAGIC Consortium, GLGC Investigators, MuTHER Consortium, JG Wilson, S Musani, X Guo, T Johnson, R Semple, TM Teslovich, MA Allison, S Redline, SG Buxbaum, KL Mohlke, I Meulenbelt, CM Ballantyne, GV Dedoussis, FB Hu, Y Liu, B Paulweber, TD Spector, PE Slagboom, L Ferrucci, A Jula, M Perola, O Raitakari, JC Florez, V Salomaa,** JG Eriksson, TM Frayling,** AA Hicks,** T Lehtimäki,** GD Smith,**, DS Siscovick,** F Kronenberg,** C van Duijn,** RJF Loos,** DM Waterworth,** JB Meigs,** J Dupuis,** JB Richards**. (2012). Novel Loci for Adiponectin Levels and their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals. PLoS Genetics. 8(3): e1002607. doi:10.1371/journal.pgen.1002607.

  22. M Ladouceur  , Z Dastani , YS Aulchenko, CMT Greenwood, JB Richards. (2012). The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals.PLoS Genetics. 8(2):e1002496. doi:10.1371/journal.pgen.1002496.

  23.  TJ Wang*, F Zhang*, JB Richards*, B Kestenbaum*, JB van Meurs*, D Berry*, et al. (2010). Common genetic determinants of vitamin D insufficiency: a genome-wide association study.The Lancet. 376(9736):180-8.

  24. JB Richards, D Waterworth, S O’Rahilly, MF Hivert, RJF Loos, et al. (2009). A genome-wide association study reveals variants in ARL that influence adiponectin levels. PLoS Genetics. 5(12):e1000768.

  25. JB Richards, FK Kavvoura, F Rivadeneira, U Styrkársdóttir, K Estrada, et al. (2009). A Systematic Evaluation of 150 Candidate Genes for their Association with Osteoporosis and Osteoporotic Fracture in a Meta-Analysis of Genome-Wide Association Data.Annals of Internal Medicine. 151(8):528-37.

  26. JB Richards, X Yuan, F Geller, D Waterworth, V Bataille, et al. (2008). Genome-Wide Association Study Reveals a Novel Locus for Male Pattern Baldness. Nature Genetics. 40(11):1281-4.

  27. JB Richards,* F Rivadeneira,* M Inouye,* TM Pastinen, N Soranzo,et al. (2008). Genome-Wide Association Study for Bone Mineral Density Reveals Genetic Variants Associated with Osteoporosis and Osteoporotic Fractures.The Lancet. 371(9623):1505-12.

  28. F Rivadeneira,* U Styrkársdóttir,* K Estrada,* B Halldórsson,* YH Hsu,* JB Richards,* MC Zillikens,* et al. (2009). Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies.Nature Genetics. 41(11):1199-206. .

  29. JB Richards, A Papaioannou, JD Adachi, L Joseph, HE Whitson, et al. (2007). Effect of selective serotonin reuptake inhibitors on the risk of fracture. Archives of Internal Medicine. 167(2):188-94.

  30. JB Richards, WD Leslie, L Joseph, K Siminoski, DA Hanley, et al. (2007). Changes to Osteoporosis Prevalence According to Method of Risk Assessment .Journal of Bone Mineral Research. 22:228-34.

  31. M Mangino, JB Richards, N Soranzo, G Zhai, A Aviv, et al. (2009). A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length. Journal of Medical Genetics. 46(7):451-4.

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