Open Access
Association of Trypanolytic ApoL1 Variants with Kidney Disease in
Giulio Genovese,David J. Friedman,Michael W. 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 +17 more
Reads0
Chats0
TLDR
In African Americans, focal segmental glomerulosclerosis and hypertension-attributed end-stage kidney disease (H-ESKD) are associated with two independent sequence variants in the APOL1 gene on chromosome 22, which speculate that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans.Abstract:
African Americans have higher rates of kidney disease than European Americans. Here, we show that, in African Americans, focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD) are associated with two independent sequence variants in the APOL1 gene on chromosome 22 {FSGS odds ratio = 10.5 (95% confidence interval (CI) 6.0 to 18.4); H-ESKD odds ratio = 7.3 (95% CI 5.6 to 9.5)}. The two APOL1 variants are common in African chromosomes but absent from European chromosomes, and both reside within haplotypes that harbor signatures of positive selection. ApoL1 (apolipoprotein L-1) is a serum factor that lyses trypanosomes. In vitro assays revealed that only the kidney disease-associated ApoL1 variants lysed Trypanosoma brucei rhodesiense. We speculate that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans.read more
Citations
More filters
Journal ArticleDOI
A Map of Human Genome Variation From Population-Scale Sequencing
Gonçalo R. Abecasis,David Altshuler,David Altshuler,Adam Auton,Lisa D Brooks,Richard Durbin,Richard A. Gibbs,Matthew E. Hurles,Gil McVean +8 more
TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
Journal ArticleDOI
Heart Disease and Stroke Statistics—2019 Update: A Report From the American Heart Association
Emelia J. Benjamin,Paul Muntner,Alvaro Alonso,Márcio Sommer Bittencourt,Clifton W. Callaway,April P. Carson,Alanna M. Chamberlain,Alex R. Chang,Susan Cheng,Sandeep R Das,Francesca N. Delling,Luc Djoussé,Mitchell S.V. Elkind,Jane F. Ferguson,Myriam Fornage,Lori C. Jordan,Sadiya S. Khan,Brett M. Kissela,Kristen L. Knutson,Tak W. Kwan,Daniel T. Lackland,Tené T. Lewis,Judith H. Lichtman,Chris T. Longenecker,Matthew Shane Loop,Pamela L. Lutsey,Seth S. Martin,Kunihiro Matsushita,Andrew E. Moran,Michael E. Mussolino,Martin O'Flaherty,Ambarish Pandey,Amanda M. Perak,Wayne D. Rosamond,Gregory A. Roth,Uchechukwu K.A. Sampson,Gary Satou,Emily B. Schroeder,Svati H. Shah,Nicole L. Spartano,Andrew Stokes,David L. Tirschwell,Connie W. Tsao,Mintu P. Turakhia,Lisa B. VanWagner,John T. Wilkins,Sally S. Wong,Salim S. Virani +47 more
TL;DR: March 5, 2019 e1 WRITING GROUP MEMBERS Emelia J. Virani, MD, PhD, FAHA, Chair Elect On behalf of the American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee.
Journal ArticleDOI
Heart Disease and Stroke Statistics-2018 Update: A Report From the American Heart Association.
Emelia J. Benjamin,Salim S. Virani,Clifton W. Callaway,Alanna M. Chamberlain,Alex R. Chang,Susan Cheng,Stephanie E. Chiuve,Mary Cushman,Francesca N. Delling,Rajat Deo,Sarah D. de Ferranti,Jane F. Ferguson,Myriam Fornage,Cathleen Gillespie,Carmen R. Isasi,Monik C. Jiménez,Lori C. Jordan,Suzanne E. Judd,Daniel T. Lackland,Judith H. Lichtman,Lynda D. Lisabeth,Simin Liu,Chris T. Longenecker,Pamela L. Lutsey,Jason Mackey,David B. Matchar,Kunihiro Matsushita,Michael E. Mussolino,Khurram Nasir,Martin O'Flaherty,Latha Palaniappan,Ambarish Pandey,Dilip K. Pandey,Mathew J. Reeves,Matthew D. Ritchey,Carlos J. Rodriguez,Gregory A. Roth,Wayne D. Rosamond,Uchechukwu K.A. Sampson,Gary Satou,Svati H. Shah,Nicole L. Spartano,David L. Tirschwell,Connie W. Tsao,Jenifer H. Voeks,Joshua Z. Willey,John T. Wilkins,Jason H Y Wu,Heather M. Alger,Sally S. Wong,Paul Muntner +50 more
TL;DR: The Statistical Update represents the most up-to-date statistics related to heart disease, stroke, and the cardiovascular risk factors listed in the AHA's My Life Check - Life’s Simple 7, which include core health behaviors and health factors that contribute to cardiovascular health.
Journal ArticleDOI
Genetics and pathogenesis of inflammatory bowel disease
TL;DR: Recent advances have provided substantial insight into the maintenance of mucosal immunity and the pathogenesis of inflammatory bowel disease, and the role of genetic predispositions and how they affect interactions with microbial and environmental factors is emphasized.
References
More filters
Journal ArticleDOI
A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer,Dennis G. Ballinger,David R. Cox,David A. Hinds,Laura L. Stuve,Richard A. Gibbs,John W. Belmont,Andrew Boudreau,Paul Hardenbol,Suzanne M. Leal,Shiran Pasternak,David A. Wheeler,Thomas D. Willis,Fuli Yu,Huanming Yang,Changqing Zeng,Gao Yang,H. B. Hu,Weitao Hu,Chaohua Li,Wei Lin,Siqi Liu,Hao Pan,Xiaoli Tang,Jian Wang,Wei Wang,Jun Yu,Bo Zhang,Qingrun Zhang,Hongbin Zhao,Hui Zhao,Jun Zhou,Stacey Gabriel,Rachel Barry,Brendan Blumenstiel,Amy L. Camargo,Matthew Defelice,Maura Faggart,Mary Goyette,Supriya Gupta,Jamie Moore,Huy Nguyen,Robert C. Onofrio,Melissa Parkin,Jessica Roy,Erich Stahl,Ellen Winchester,Liuda Ziaugra,David Altshuler,Yan Shen,Zhijian Yao,Wei Huang,Xun Chu,Yungang He,Li Jin,Yangfan Liu,Yayun Shen,Weiwei Sun,Haifeng Wang,Yi Wang,Ying Wang,Xiaoyan Xiong,Liang Xu,Mary M.Y. Waye,Stephen Kwok-Wing Tsui,Hong Xue,J. Tze Fei Wong,Luana Galver,Jian-Bing Fan,Kevin L. Gunderson,Sarah S. Murray,Arnold Oliphant,Mark S. Chee,Alexandre Montpetit,Fanny Chagnon,Vincent Ferretti,Martin Leboeuf,Jean François Olivier,Michael S. Phillips,Stéphanie Roumy,Clémentine Sallée,Andrei Verner,Thomas J. Hudson,Pui-Yan Kwok,Dongmei Cai,Daniel C. Koboldt,Raymond D. Miller,Ludmila Pawlikowska,Patricia Taillon-Miller,Ming Xiao,Lap-Chee Tsui,William Mak,Qiang Song You,Paul K.H. Tam,Yusuke Nakamura,Takahisa Kawaguchi,Takuya Kitamoto,Takashi Morizono,Atsushi Nagashima,Yozo Ohnishi,Akihiro Sekine,Toshihiro Tanaka,Tatsuhiko Tsunoda,Panos Deloukas,Christine P. Bird,Marcos Delgado,Emmanouil T. Dermitzakis,Rhian Gwilliam,Sarah E. Hunt,Jonathan J. Morrison,Don Powell,Barbara E. Stranger,Pamela Whittaker,David R. Bentley,Mark J. Daly,Paul I.W. de Bakker,Jeffrey C. Barrett,Yves Chretien,Julian Maller,Steve McCarroll,Nick Patterson,Itsik Pe'er,Alkes L. Price,Shaun Purcell,Daniel J. Richter,Pardis C. Sabeti,Richa Saxena,Stephen F. Schaffner,Pak C. Sham,Patrick Varilly,Lincoln Stein,Lalitha Krishnan,Albert V. Smith,Marcela K. Tello-Ruiz,Gudmundur A. Thorisson,Aravinda Chakravarti,Peter E. Chen,David J. Cutler,Carl S. Kashuk,Shin Lin,Gonçalo R. Abecasis,Weihua Guan,Yun Li,Heather M. Munro,Zhaohui S. Qin,Daryl J. Thomas,Gilean McVean,Adam Auton,Leonardo Bottolo,Niall Cardin,Susana Eyheramendy,Colin Freeman,Jonathan Marchini,Simon Myers,Chris C. A. Spencer,Matthew Stephens,Peter Donnelly,Lon R. Cardon,Geraldine M. Clarke,David M. Evans,Andrew P. Morris,Bruce S. Weir,Todd A. Johnson,James C. Mullikin,Stephen T. Sherry,Michael Feolo,Andrew D. Skol,Houcan Zhang,Ichiro Matsuda,Yoshimitsu Fukushima,Darryl Macer,Eiko Suda,Charles N. Rotimi,Clement Adebamowo,Ike Ajayi,Toyin Aniagwu,Patricia A. Marshall,Chibuzor Nkwodimmah,Charmaine D.M. Royal,Mark Leppert,Missy Dixon,Andy Peiffer,Renzong Qiu,Alastair Kent,Kazuto Kato,Norio Niikawa,Isaac F. Adewole,Bartha Maria Knoppers,Morris W. Foster,Ellen Wright Clayton,Jessica Watkin,Donna M. Muzny,Lynne V. Nazareth,Erica Sodergren,George M. Weinstock,Imtaz Yakub,Bruce W. Birren,Richard K. Wilson,Lucinda Fulton,Jane Rogers,John Burton,Nigel P. Carter,C M Clee,Mark Griffiths,Matthew C. Jones,Kirsten McLay,Robert W. Plumb,Mark T. Ross,Sarah Sims,David Willey,Zhu Chen,Hua Han,Le Kang,Martin Godbout,John C. Wallenburg,Paul L'Archevêque,Guy Bellemare,Koji Saeki,Hongguang Wang,Daochang An,Hongbo Fu,Qing Li,Zhen Wang,Renwu Wang,Arthur L. Holden,Lisa D. Brooks,Jean E. McEwen,Mark S. Guyer,Vivian Ota Wang,Jane Peterson,Michael Shi,Jack Spiegel,Lawrence M. Sung,Lynn F. Zacharia,Francis S. Collins,Karen Kennedy,Ruth Jamieson,John Stewart +237 more
TL;DR: The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Journal ArticleDOI
A Map of Recent Positive Selection in the Human Genome
TL;DR: A set of SNPs is developed that can be used to tag the strongest ∼250 signals of recent selection in each population, and it is found that by some measures the authors' strongest signals of selection are from the Yoruba population.
Journal ArticleDOI
Detecting recent positive selection in the human genome from haplotype structure
Pardis C. Sabeti,David Reich,John M. Higgins,Haninah Z P Levine,Daniel J. Richter,Stephen F. Schaffner,Stacey Gabriel,Jill Platko,Nick Patterson,Gavin J. McDonald,Hans Ackerman,Sarah J. Campbell,David Altshuler,David Altshuler,Richard H. Cooper,Dominic P. Kwiatkowski,Ryk Ward,Eric S. Lander +17 more
TL;DR: A framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human populations is introduced, and the core haplotypes carrying the proposed protective mutation stand out and show significant evidence of selection.
Journal ArticleDOI
Positive Natural Selection in the Human Lineage
Pardis C. Sabeti,Stephen F. Schaffner,Ben Fry,Jason Lohmueller,Patrick Varilly,O. Shamovsky,Alejandro A. Palma,Tarjei S. Mikkelsen,David Altshuler,Eric S. Lander +9 more
TL;DR: The authors reviewed approaches to detect positive natural selection in humans, described results from recent analyses of genome-wide data, and discuss the prospects and challenges ahead as we expand our understanding of the role of natural selection on shaping the human genome.
Journal ArticleDOI
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis
Jeffrey B. Kopp,Michael W. Smith,George W. Nelson,Randall C. Johnson,Barry I. Freedman,Donald W. Bowden,Taras K. Oleksyk,Louise M. McKenzie,Hiroshi Kajiyama,Tejinder S. Ahuja,Jeffrey S. Berns,William A. Briggs,Monique E. Cho,Richard A. Dart,Paul L. Kimmel,Stephen M. Korbet,Donna M. Michel,Michele H. Mokrzycki,Jeffrey R. Schelling,Eric E. Simon,Howard Trachtman,David Vlahov,Cheryl A. Winkler +22 more
TL;DR: Genetic variation at the MYH9 locus substantially explains the increased burden of FSGS and hypertensive ESKD among African Americans.
Related Papers (5)
Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
Giulio Genovese,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,Martin R. Pollak +19 more
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects
Matthew G. Sampson,Catherine C. Robertson,Sebastian Martini,Laura H. Mariani,Kevin V. Lemley,Christopher E. Gillies,Edgar A. Otto,Jeffrey B. Kopp,Anne Randolph,Virginia Vega-Warner,Felix Eichinger,Viji Nair,Debbie S. Gipson,Daniel C. Cattran,Duncan B. Johnstone,John F. O'Toole,Serena M. Bagnasco,Peter X.-K. Song,Laura Barisoni,Jonathan P. Troost,Matthias Kretzler,John R. Sedor +21 more
Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans
Meijian Guan,Jacob M. Keaton,Latchezar Dimitrov,Pamela J. Hicks,Jianzhao Xu,Nicholette D. Palmer,Lijun Ma,Swapan K Das,Yii-Der Ida Chen,Josef Coresh,Myriam Fornage,Nora Franceschini,Holly Kramer,Carl D. Langefeld,Josyf C. Mychaleckyj,Rulan S. Parekh,Wendy S. Post,Laura J. Rasmussen-Torvik,Stephen S. Rich,Jerome I. Rotter,John R. Sedor,John R. Sedor,Denyse Thornley-Brown,Adrienne Tin,James G. Wilson,Barry I. Freedman,Donald W. Bowden,Maggie C.Y. Ng +27 more
Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis
Chee Paul Lin,Indra Adrianto,Christopher J. Lessard,Christopher J. Lessard,Jennifer A. Kelly,Kenneth M. Kaufman,Kenneth M. Kaufman,Kenneth M. Kaufman,Joel M. Guthridge,Barry I. Freedman,Juan-Manuel Anaya,Marta E. Alarcón-Riquelme,Marta E. Alarcón-Riquelme,Bernardo A. Pons-Estel,Javier Martin,Stuart B. Glenn,Adam Adler,S-C Bae,S-Y Park,S-Y Bang,Y-W Song,Susan A. Boackle,Elizabeth E. Brown,Jeffrey C. Edberg,Graciela S. Alarcón,Michelle Petri,Lindsey A. Criswell,Rosalind Ramsey-Goldman,John D. Reveille,Luis M. Vilá,Gary S. Gilkeson,Diane L. Kamen,Julie T. Ziegler,Chaim O. Jacob,Astrid Rasmussen,Judith A. James,Judith A. James,Robert P. Kimberly,Joan T. Merrill,Timothy B. Niewold,R. H. Scofield,R. H. Scofield,R. H. Scofield,Anne M. Stevens,Anne M. Stevens,Betty P. Tsao,Timothy J. Vyse,Carl D. Langefeld,Kathy L. Moser,Kathy L. Moser,John B. Harley,John B. Harley,Patrick M. Gaffney,Courtney G. Montgomery +53 more