Literature DB >> 30901543

The Missing Diversity in Human Genetic Studies.

Giorgio Sirugo1, Scott M Williams2, Sarah A Tishkoff3.   

Abstract

The majority of studies of genetic association with disease have been performed in Europeans. This European bias has important implications for risk prediction of diseases across global populations. In this commentary, we justify the need to study more diverse populations using both empirical examples and theoretical reasoning.
Copyright © 2019. Published by Elsevier Inc.

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Year:  2019        PMID： 30901543      PMCID： PMC7380073          DOI： 10.1016/j.cell.2019.02.048

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  18 in total

1.  The rise and fall of the antimalarial Lapdap: a lesson in pharmacogenetics.

Authors:  Lucio Luzzatto
Journal:  Lancet       Date:  2010-07-03       Impact factor: 79.321

2.  Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Authors:  Giulio Genovese; David J Friedman; Michael D Ross; Laurence Lecordier; Pierrick Uzureau; Barry I Freedman; Donald W Bowden; Carl D Langefeld; Taras K Oleksyk; Andrea L Uscinski Knob; Andrea J Bernhardy; Pamela J Hicks; George W Nelson; Benoit Vanhollebeke; Cheryl A Winkler; Jeffrey B Kopp; Etienne Pays; Martin R Pollak
Journal:  Science       Date:  2010-07-15       Impact factor: 47.728

3.  Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

Authors:  Alicia R Martin; Christopher R Gignoux; Raymond K Walters; Genevieve L Wojcik; Benjamin M Neale; Simon Gravel; Mark J Daly; Carlos D Bustamante; Eimear E Kenny
Journal:  Am J Hum Genet       Date:  2017-03-30       Impact factor: 11.025

4.  Polygenic risk score for schizophrenia is more strongly associated with ancestry than with schizophrenia.

Authors:  David Curtis
Journal:  Psychiatr Genet       Date:  2018-10       Impact factor: 2.458

Review 5.  Cystic Fibrosis in the African Diaspora.

Authors:  Cheryl Stewart; Michael S Pepper
Journal:  Ann Am Thorac Soc       Date:  2017-01

6.  The genetic structure and history of Africans and African Americans.

Authors:  Sarah A Tishkoff; Floyd A Reed; Françoise R Friedlaender; Christopher Ehret; Alessia Ranciaro; Alain Froment; Jibril B Hirbo; Agnes A Awomoyi; Jean-Marie Bodo; Ogobara Doumbo; Muntaser Ibrahim; Abdalla T Juma; Maritha J Kotze; Godfrey Lema; Jason H Moore; Holly Mortensen; Thomas B Nyambo; Sabah A Omar; Kweli Powell; Gideon S Pretorius; Michael W Smith; Mahamadou A Thera; Charles Wambebe; James L Weber; Scott M Williams
Journal:  Science       Date:  2009-04-30       Impact factor: 47.728

7.  Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

Authors:  Angel C Y Mak; Marquitta J White; Walter L Eckalbar; Zachary A Szpiech; Sam S Oh; Maria Pino-Yanes; Donglei Hu; Pagé Goddard; Scott Huntsman; Joshua Galanter; Ann Chen Wu; Blanca E Himes; Soren Germer; Julia M Vogel; Karen L Bunting; Celeste Eng; Sandra Salazar; Kevin L Keys; Jennifer Liberto; Thomas J Nuckton; Thomas A Nguyen; Dara G Torgerson; Pui-Yan Kwok; Albert M Levin; Juan C Celedón; Erick Forno; Hakon Hakonarson; Patrick M Sleiman; Amber Dahlin; Kelan G Tantisira; Scott T Weiss; Denise Serebrisky; Emerita Brigino-Buenaventura; Harold J Farber; Kelley Meade; Michael A Lenoir; Pedro C Avila; Saunak Sen; Shannon M Thyne; William Rodriguez-Cintron; Cheryl A Winkler; Andrés Moreno-Estrada; Karla Sandoval; Jose R Rodriguez-Santana; Rajesh Kumar; L Keoki Williams; Nadav Ahituv; Elad Ziv; Max A Seibold; Robert B Darnell; Noah Zaitlen; Ryan D Hernandez; Esteban G Burchard
Journal:  Am J Respir Crit Care Med       Date:  2018-06-15       Impact factor: 30.528

8.  Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics-Guided Warfarin Dosing: 2017 Update.

Authors:  J A Johnson; K E Caudle; L Gong; M Whirl-Carrillo; C M Stein; S A Scott; M T Lee; B F Gage; S E Kimmel; M A Perera; J L Anderson; M Pirmohamed; T E Klein; N A Limdi; L H Cavallari; M Wadelius
Journal:  Clin Pharmacol Ther       Date:  2017-04-04       Impact factor: 6.875

9.  Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Authors:  Elaine T Lim; Peter Würtz; Aki S Havulinna; Priit Palta; Taru Tukiainen; Karola Rehnström; Tõnu Esko; Reedik Mägi; Michael Inouye; Tuuli Lappalainen; Yingleong Chan; Rany M Salem; Monkol Lek; Jason Flannick; Xueling Sim; Alisa Manning; Claes Ladenvall; Suzannah Bumpstead; Eija Hämäläinen; Kristiina Aalto; Mikael Maksimow; Marko Salmi; Stefan Blankenberg; Diego Ardissino; Svati Shah; Benjamin Horne; Ruth McPherson; Gerald K Hovingh; Muredach P Reilly; Hugh Watkins; Anuj Goel; Martin Farrall; Domenico Girelli; Alex P Reiner; Nathan O Stitziel; Sekar Kathiresan; Stacey Gabriel; Jeffrey C Barrett; Terho Lehtimäki; Markku Laakso; Leif Groop; Jaakko Kaprio; Markus Perola; Mark I McCarthy; Michael Boehnke; David M Altshuler; Cecilia M Lindgren; Joel N Hirschhorn; Andres Metspalu; Nelson B Freimer; Tanja Zeller; Sirpa Jalkanen; Seppo Koskinen; Olli Raitakari; Richard Durbin; Daniel G MacArthur; Veikko Salomaa; Samuli Ripatti; Mark J Daly; Aarno Palotie
Journal:  PLoS Genet       Date:  2014-07-31       Impact factor: 5.917

10.  Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Authors:  Tuomas O Kilpeläinen; Amy R Bentley; Raymond Noordam; Yun Ju Sung; Karen Schwander; Thomas W Winkler; Hermina Jakupović; Daniel I Chasman; Alisa Manning; Ioanna Ntalla; Hugues Aschard; Michael R Brown; Lisa de Las Fuentes; Nora Franceschini; Xiuqing Guo; Dina Vojinovic; Stella Aslibekyan; Mary F Feitosa; Minjung Kho; Solomon K Musani; Melissa Richard; Heming Wang; Zhe Wang; Traci M Bartz; Lawrence F Bielak; Archie Campbell; Rajkumar Dorajoo; Virginia Fisher; Fernando P Hartwig; Andrea R V R Horimoto; Changwei Li; Kurt K Lohman; Jonathan Marten; Xueling Sim; Albert V Smith; Salman M Tajuddin; Maris Alver; Marzyeh Amini; Mathilde Boissel; Jin Fang Chai; Xu Chen; Jasmin Divers; Evangelos Evangelou; Chuan Gao; Mariaelisa Graff; Sarah E Harris; Meian He; Fang-Chi Hsu; Anne U Jackson; Jing Hua Zhao; Aldi T Kraja; Brigitte Kühnel; Federica Laguzzi; Leo-Pekka Lyytikäinen; Ilja M Nolte; Rainer Rauramaa; Muhammad Riaz; Antonietta Robino; Rico Rueedi; Heather M Stringham; Fumihiko Takeuchi; Peter J van der Most; Tibor V Varga; Niek Verweij; Erin B Ware; Wanqing Wen; Xiaoyin Li; Lisa R Yanek; Najaf Amin; Donna K Arnett; Eric Boerwinkle; Marco Brumat; Brian Cade; Mickaël Canouil; Yii-Der Ida Chen; Maria Pina Concas; John Connell; Renée de Mutsert; H Janaka de Silva; Paul S de Vries; Ayşe Demirkan; Jingzhong Ding; Charles B Eaton; Jessica D Faul; Yechiel Friedlander; Kelley P Gabriel; Mohsen Ghanbari; Franco Giulianini; Chi Charles Gu; Dongfeng Gu; Tamara B Harris; Jiang He; Sami Heikkinen; Chew-Kiat Heng; Steven C Hunt; M Arfan Ikram; Jost B Jonas; Woon-Puay Koh; Pirjo Komulainen; Jose E Krieger; Stephen B Kritchevsky; Zoltán Kutalik; Johanna Kuusisto; Carl D Langefeld; Claudia Langenberg; Lenore J Launer; Karin Leander; Rozenn N Lemaitre; Cora E Lewis; Jingjing Liang; Jianjun Liu; Reedik Mägi; Ani Manichaikul; Thomas Meitinger; Andres Metspalu; Yuri Milaneschi; Karen L Mohlke; Thomas H Mosley; Alison D Murray; Mike A Nalls; Ei-Ei Khaing Nang; Christopher P Nelson; Sotoodehnia Nona; Jill M Norris; Chiamaka Vivian Nwuba; Jeff O'Connell; Nicholette D Palmer; George J Papanicolau; Raha Pazoki; Nancy L Pedersen; Annette Peters; Patricia A Peyser; Ozren Polasek; David J Porteous; Alaitz Poveda; Olli T Raitakari; Stephen S Rich; Neil Risch; Jennifer G Robinson; Lynda M Rose; Igor Rudan; Pamela J Schreiner; Robert A Scott; Stephen S Sidney; Mario Sims; Jennifer A Smith; Harold Snieder; Tamar Sofer; John M Starr; Barbara Sternfeld; Konstantin Strauch; Hua Tang; Kent D Taylor; Michael Y Tsai; Jaakko Tuomilehto; André G Uitterlinden; M Yldau van der Ende; Diana van Heemst; Trudy Voortman; Melanie Waldenberger; Patrik Wennberg; Gregory Wilson; Yong-Bing Xiang; Jie Yao; Caizheng Yu; Jian-Min Yuan; Wei Zhao; Alan B Zonderman; Diane M Becker; Michael Boehnke; Donald W Bowden; Ulf de Faire; Ian J Deary; Paul Elliott; Tõnu Esko; Barry I Freedman; Philippe Froguel; Paolo Gasparini; Christian Gieger; Norihiro Kato; Markku Laakso; Timo A Lakka; Terho Lehtimäki; Patrik K E Magnusson; Albertine J Oldehinkel; Brenda W J H Penninx; Nilesh J Samani; Xiao-Ou Shu; Pim van der Harst; Jana V Van Vliet-Ostaptchouk; Peter Vollenweider; Lynne E Wagenknecht; Ya X Wang; Nicholas J Wareham; David R Weir; Tangchun Wu; Wei Zheng; Xiaofeng Zhu; Michele K Evans; Paul W Franks; Vilmundur Gudnason; Caroline Hayward; Bernardo L Horta; Tanika N Kelly; Yongmei Liu; Kari E North; Alexandre C Pereira; Paul M Ridker; E Shyong Tai; Rob M van Dam; Ervin R Fox; Sharon L R Kardia; Ching-Ti Liu; Dennis O Mook-Kanamori; Michael A Province; Susan Redline; Cornelia M van Duijn; Jerome I Rotter; Charles B Kooperberg; W James Gauderman; Bruce M Psaty; Kenneth Rice; Patricia B Munroe; Myriam Fornage; L Adrienne Cupples; Charles N Rotimi; Alanna C Morrison; Dabeeru C Rao; Ruth J F Loos
Journal:  Nat Commun       Date:  2019-01-22       Impact factor: 17.694
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  229 in total

1.  Defense Response in Brazilian Honey Bees (Apis mellifera scutellata × spp.) Is Underpinned by Complex Patterns of Admixture.

Authors:  Brock A Harpur; Samir M Kadri; Ricardo O Orsi; Charles W Whitfield; Amro Zayed
Journal:  Genome Biol Evol       Date:  2020-08-01       Impact factor: 3.416

Review 2.  The importance of including ethnically diverse populations in studies of quantitative trait evolution.

Authors:  Michael A McQuillan; Chao Zhang; Sarah A Tishkoff; Alexander Platt
Journal:  Curr Opin Genet Dev       Date:  2020-06-27       Impact factor: 5.578

3.  External Validation of Risk Prediction Models Incorporating Common Genetic Variants for Incident Colorectal Cancer Using UK Biobank.

Authors:  Catherine L Saunders; Britt Kilian; Deborah J Thompson; Luke J McGeoch; Simon J Griffin; Antonis C Antoniou; Jon D Emery; Fiona M Walter; Joe Dennis; Xin Yang; Juliet A Usher-Smith
Journal:  Cancer Prev Res (Phila)       Date:  2020-02-18

Review 4.  Diversity on demand: multi-ancestry meta-analysis improves genetic risk prediction in prostate cancer.

Authors:  Andres F Leon; Cindy H Chau; Douglas K Price; William D Figg
Journal:  Am J Clin Exp Urol       Date:  2021-04-15

5.  Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians.

Authors:  Minxian Wang; Ramesh Menon; Sanghamitra Mishra; Aniruddh P Patel; Mark Chaffin; Deepak Tanneeru; Manjari Deshmukh; Oshin Mathew; Sanika Apte; Christina S Devanboo; Sumathi Sundaram; Praveena Lakshmipathy; Sakthivel Murugan; Krishna Kumar Sharma; Karthikeyan Rajendran; Sam Santhosh; Rajesh Thachathodiyl; Hisham Ahamed; Aniketh Vijay Balegadde; Thomas Alexander; Krishnan Swaminathan; Rajeev Gupta; Ajit S Mullasari; Alben Sigamani; Muralidhar Kanchi; Andrew S Peterson; Adam S Butterworth; John Danesh; Emanuele Di Angelantonio; Aliya Naheed; Michael Inouye; Rajiv Chowdhury; Ramprasad L Vedam; Sekar Kathiresan; Ravi Gupta; Amit V Khera
Journal:  J Am Coll Cardiol       Date:  2020-08-11       Impact factor: 24.094

6.  Don't ignore genetic data from minority populations.

Authors:  Chief Ben-Eghan; Rosie Sun; Jose Sergio Hleap; Alex Diaz-Papkovich; Hans Markus Munter; Audrey V Grant; Charles Dupras; Simon Gravel
Journal:  Nature       Date:  2020-09       Impact factor: 49.962

7.  Advancing Diverse Participation in Research with Special Consideration for Vulnerable Populations.

Authors: 
Journal:  Am J Hum Genet       Date:  2020-09-03       Impact factor: 11.025

8.  PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Authors:  Chao Zhang; Yang Gao; Zhilin Ning; Yan Lu; Xiaoxi Zhang; Jiaojiao Liu; Bo Xie; Zhe Xue; Xiaoji Wang; Kai Yuan; Xueling Ge; Yuwen Pan; Chang Liu; Lei Tian; Yuchen Wang; Dongsheng Lu; Boon-Peng Hoh; Shuhua Xu
Journal:  Genome Biol       Date:  2019-10-22       Impact factor: 13.583

9.  The fog of genetics: what is known, unknown and unknowable in the genetics of complex traits and diseases.

Authors:  João Pedro de Magalhães; Jingwei Wang
Journal:  EMBO Rep       Date:  2019-10-21       Impact factor: 8.807

10.  5'-UTR SNP of FGF13 causes translational defect and intellectual disability.

Authors:  Xingyu Pan; Jingrong Zhao; Zhiying Zhou; Jijun Chen; Zhenxing Yang; Yuxuan Wu; Meizhu Bai; Yang Jiao; Yun Yang; Xuye Hu; Tianling Cheng; Qianyun Lu; Bin Wang; Chang-Lin Li; Ying-Jin Lu; Lei Diao; Yan-Qing Zhong; Jing Pan; Jianmin Zhu; Hua-Sheng Xiao; Zi-Long Qiu; Jinsong Li; Zefeng Wang; Jingyi Hui; Lan Bao; Xu Zhang
Journal:  Elife       Date:  2021-06-29       Impact factor: 8.140
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