Literature DB >> 19079262

New sequence variants associated with bone mineral density.

Unnur Styrkarsdottir1, Bjarni V Halldorsson, Solveig Gretarsdottir, Daniel F Gudbjartsson, G Bragi Walters, Thorvaldur Ingvarsson, Thorbjorg Jonsdottir, Jona Saemundsdottir, Steinunn Snorradóttir, Jacqueline R Center, Tuan V Nguyen, Peter Alexandersen, Jeffrey R Gulcher, John A Eisman, Claus Christiansen, Gunnar Sigurdsson, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson.   

Abstract

In an extended genome-wide association study of bone mineral density among 6,865 Icelanders and a follow-up in 8,510 subjects of European descent, we identified four new genome-wide significant loci. These are near the SOST gene at 17q21, the MARK3 gene at 14q32, the SP7 gene at 12q13 and the TNFRSF11A (RANK) gene at 18q21. Furthermore, nonsynonymous SNPs in the C17orf53, LRP4, ADAM19 and IBSP genes were suggestively associated with bone density.

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Year:  2008        PMID： 19079262     DOI： 10.1038/ng.284

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes.

Authors:  Anne-Marie Sims; Neil Shephard; Kim Carter; Tracy Doan; Alison Dowling; Emma L Duncan; John Eisman; Graeme Jones; Geoffrey Nicholson; Richard Prince; Ego Seeman; Gethin Thomas; John A Wass; Matthew A Brown
Journal:  J Bone Miner Res       Date:  2008-04       Impact factor: 6.741

2.  Predictive value of BMD for hip and other fractures.

Authors:  Olof Johnell; John A Kanis; Anders Oden; Helena Johansson; Chris De Laet; Pierre Delmas; John A Eisman; Seiko Fujiwara; Heikki Kroger; Dan Mellstrom; Pierre J Meunier; L Joseph Melton; Terry O'Neill; Huibert Pols; Jonathan Reeve; Alan Silman; Alan Tenenhouse
Journal:  J Bone Miner Res       Date:  2005-03-07       Impact factor: 6.741

3.  Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Authors:  M E Brunkow; J C Gardner; J Van Ness; B W Paeper; B R Kovacevich; S Proll; J E Skonier; L Zhao; P J Sabo; Y Fu; R S Alisch; L Gillett; T Colbert; P Tacconi; D Galas; H Hamersma; P Beighton; J Mulligan
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

4.  Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.

Authors:  Andre G Uitterlinden; Pascal P Arp; Bryan W Paeper; Patrick Charmley; Sean Proll; Fernando Rivadeneira; Yue Fang; Joyce B J van Meurs; Theresa B Britschgi; John A Latham; Randall C Schatzman; Huibert A P Pols; Mary E Brunkow
Journal:  Am J Hum Genet       Date:  2004-10-26       Impact factor: 11.025

5.  Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis.

Authors:  Joyce B J van Meurs; Thomas A Trikalinos; Stuart H Ralston; Susana Balcells; Maria Luisa Brandi; Kim Brixen; Douglas P Kiel; Bente L Langdahl; Paul Lips; Osten Ljunggren; Roman Lorenc; Barbara Obermayer-Pietsch; Claes Ohlsson; Ulrika Pettersson; David M Reid; Francois Rousseau; Serena Scollen; Wim Van Hul; Lidia Agueda; Kristina Akesson; Lidia I Benevolenskaya; Serge L Ferrari; Göran Hallmans; Albert Hofman; Lise Bjerre Husted; Marcin Kruk; Stephen Kaptoge; David Karasik; Magnus K Karlsson; Mattias Lorentzon; Laura Masi; Fiona E A McGuigan; Dan Mellström; Leif Mosekilde; Xavier Nogues; Huibert A P Pols; Jonathan Reeve; Wilfried Renner; Fernando Rivadeneira; Natasja M van Schoor; Kurt Weber; John P A Ioannidis; André G Uitterlinden
Journal:  JAMA       Date:  2008-03-19       Impact factor: 56.272

6.  LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

Authors:  Takeshi Mizuguchi; Itsuko Furuta; Yukio Watanabe; Kazuhiro Tsukamoto; Hiroshi Tomita; Mitsuhiro Tsujihata; Tohru Ohta; Tatsuya Kishino; Naomichi Matsumoto; Hisanori Minakami; Norio Niikawa; Koh-Ichiro Yoshiura
Journal:  J Hum Genet       Date:  2004-01-15       Impact factor: 3.172

7.  Multiple genetic loci for bone mineral density and fractures.

Authors:  Unnur Styrkarsdottir; Bjarni V Halldorsson; Solveig Gretarsdottir; Daniel F Gudbjartsson; G Bragi Walters; Thorvaldur Ingvarsson; Thorbjorg Jonsdottir; Jona Saemundsdottir; Jacqueline R Center; Tuan V Nguyen; Yu Bagger; Jeffrey R Gulcher; John A Eisman; Claus Christiansen; Gunnar Sigurdsson; Augustine Kong; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  N Engl J Med       Date:  2008-04-29       Impact factor: 91.245

Review 8.  Genetics of osteoporosis.

Authors:  Munro Peacock; Charles H Turner; Michael J Econs; Tatiana Foroud
Journal:  Endocr Rev       Date:  2002-06       Impact factor: 19.871

9.  A second generation human haplotype map of over 3.1 million SNPs.

Authors:  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; Yang Gao; Haoran 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 B Gabriel; Rachel Barry; Brendan Blumenstiel; Amy 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 K W Tsui; Hong Xue; J Tze-Fei Wong; Luana M Galver; Jian-Bing Fan; Kevin Gunderson; Sarah S Murray; Arnold R 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; You Qiang Song; 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 Hunt; Jonathan Morrison; Don Powell; Barbara E Stranger; Pamela Whittaker; David R Bentley; Mark J Daly; Paul I W de Bakker; Jeff Barrett; Yves R Chretien; Julian Maller; Steve McCarroll; Nick Patterson; Itsik Pe'er; Alkes Price; Shaun Purcell; Daniel J Richter; Pardis Sabeti; Richa Saxena; Stephen F Schaffner; Pak C Sham; Patrick Varilly; David Altshuler; Lincoln D Stein; Lalitha Krishnan; Albert Vernon 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 Steve Qin; Daryl J Thomas; Gilean McVean; Adam Auton; Leonardo Bottolo; Niall Cardin; Susana Eyheramendy; Colin Freeman; Jonathan Marchini; Simon Myers; Chris Spencer; Matthew Stephens; Peter Donnelly; Lon R Cardon; Geraldine Clarke; David M Evans; Andrew P Morris; Bruce S Weir; Tatsuhiko Tsunoda; James C Mullikin; Stephen T Sherry; Michael Feolo; Andrew Skol; Houcan Zhang; Changqing Zeng; Hui Zhao; Ichiro Matsuda; Yoshimitsu Fukushima; Darryl R Macer; Eiko Suda; Charles N Rotimi; Clement A Adebamowo; Ike Ajayi; Toyin Aniagwu; Patricia A Marshall; Chibuzor Nkwodimmah; Charmaine D M Royal; Mark F Leppert; Missy Dixon; Andy Peiffer; Renzong Qiu; Alastair Kent; Kazuto Kato; Norio Niikawa; Isaac F Adewole; Bartha M Knoppers; Morris W Foster; Ellen Wright Clayton; Jessica Watkin; Richard A Gibbs; John W Belmont; Donna Muzny; Lynne Nazareth; Erica Sodergren; George M Weinstock; David A Wheeler; Imtaz Yakub; Stacey B Gabriel; Robert C Onofrio; Daniel J Richter; Liuda Ziaugra; Bruce W Birren; Mark J Daly; David Altshuler; Richard K Wilson; Lucinda L Fulton; Jane Rogers; John Burton; Nigel P Carter; Christopher M Clee; Mark Griffiths; Matthew C Jones; Kirsten McLay; Robert W Plumb; Mark T Ross; Sarah K Sims; David L 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 L Peterson; Michael Shi; Jack Spiegel; Lawrence M Sung; Lynn F Zacharia; Francis S Collins; Karen Kennedy; Ruth Jamieson; John Stewart
Journal:  Nature       Date:  2007-10-18       Impact factor: 49.962

Review 10.  The use of clinical risk factors enhances the performance of BMD in the prediction of hip and osteoporotic fractures in men and women.

Authors:  J A Kanis; A Oden; O Johnell; H Johansson; C De Laet; J Brown; P Burckhardt; C Cooper; C Christiansen; S Cummings; J A Eisman; S Fujiwara; C Glüer; D Goltzman; D Hans; M-A Krieg; A La Croix; E McCloskey; D Mellstrom; L J Melton; H Pols; J Reeve; K Sanders; A-M Schott; A Silman; D Torgerson; T van Staa; N B Watts; N Yoshimura
Journal:  Osteoporos Int       Date:  2007-02-24       Impact factor: 4.507
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  154 in total

1.  A common variant in fibroblast growth factor binding protein 1 (FGFBP1) is associated with bone mineral density and influences gene expression in vitro.

Authors:  Nicole Hoppman; John C McLenithan; Daniel J McBride; Haiqing Shen; Jan Bruder; Richard L Bauer; John R Shaffer; Jie Liu; Elizabeth A Streeten; Alan R Shuldiner; Candace M Kammerer; Braxton D Mitchell
Journal:  Bone       Date:  2010-05-05       Impact factor: 4.398

Review 2.  Update on Wnt signaling in bone cell biology and bone disease.

Authors:  David G Monroe; Meghan E McGee-Lawrence; Merry Jo Oursler; Jennifer J Westendorf
Journal:  Gene       Date:  2011-11-03       Impact factor: 3.688

3.  Nuclear receptor NR5A2 and bone: gene expression and association with bone mineral density.

Authors:  José A Riancho; Yongjun Liu; Jesús Sainz; Miguel A García-Pérez; José M Olmos; Alfonso Bolado-Carrancio; Carmen Valero; Javier Pérez-López; Antonio Cano; Tielin Yang; Carolina Sañudo; Hong-Wen Deng; José C Rodríguez-Rey
Journal:  Eur J Endocrinol       Date:  2011-11-02       Impact factor: 6.664

4.  Use of genome-wide association studies for drug repositioning.

Authors:  Philippe Sanseau; Pankaj Agarwal; Michael R Barnes; Tomi Pastinen; J Brent Richards; Lon R Cardon; Vincent Mooser
Journal:  Nat Biotechnol       Date:  2012-04-10       Impact factor: 54.908

5.  LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Authors:  Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hülya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Pete Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-04-08       Impact factor: 11.025

Review 6.  Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

Authors:  Orestis A Panagiotou; Evangelos Evangelou; John P A Ioannidis
Journal:  Am J Epidemiol       Date:  2010-09-28       Impact factor: 4.897

7.  Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.

Authors:  Gary F Mitchell; Germaine C Verwoert; Kirill V Tarasov; Aaron Isaacs; Albert V Smith; Ernst R Rietzschel; Toshiko Tanaka; Yongmei Liu; Afshin Parsa; Samer S Najjar; Kevin M O'Shaughnessy; Sigurdur Sigurdsson; Marc L De Buyzere; Martin G Larson; Mark P S Sie; Jeanette S Andrews; Wendy S Post; Francesco U S Mattace-Raso; Carmel M McEniery; Gudny Eiriksdottir; Patrick Segers; Ramachandran S Vasan; Marie Josee E van Rijn; Timothy D Howard; Patrick F McArdle; Abbas Dehghan; Elizabeth S Jewell; Stephen J Newhouse; Sofie Bekaert; Naomi M Hamburg; Anne B Newman; Albert Hofman; Angelo Scuteri; Dirk De Bacquer; Mohammad Arfan Ikram; Bruce M Psaty; Christian Fuchsberger; Matthias Olden; Louise V Wain; Paul Elliott; Nicholas L Smith; Janine F Felix; Jeanette Erdmann; Joseph A Vita; Kim Sutton-Tyrrell; Eric J G Sijbrands; Serena Sanna; Lenore J Launer; Tim De Meyer; Andrew D Johnson; Anna F C Schut; David M Herrington; Fernando Rivadeneira; Manuela Uda; Ian B Wilkinson; Thor Aspelund; Thierry C Gillebert; Luc Van Bortel; Emelia J Benjamin; Ben A Oostra; Jingzhong Ding; Quince Gibson; André G Uitterlinden; Gonçalo R Abecasis; John R Cockcroft; Vilmundur Gudnason; Guy G De Backer; Luigi Ferrucci; Tamara B Harris; Alan R Shuldiner; Cornelia M van Duijn; Daniel Levy; Edward G Lakatta; Jacqueline C M Witteman
Journal:  Circ Cardiovasc Genet       Date:  2011-11-08

Review 8.  WNT signaling in bone homeostasis and disease: from human mutations to treatments.

Authors:  Roland Baron; Michaela Kneissel
Journal:  Nat Med       Date:  2013-02-06       Impact factor: 53.440

9.  Genetics of Bone Mass in Childhood and Adolescence: Effects of Sex and Maturation Interactions.

Authors:  Jonathan A Mitchell; Alessandra Chesi; Okan Elci; Shana E McCormack; Heidi J Kalkwarf; Joan M Lappe; Vicente Gilsanz; Sharon E Oberfield; John A Shepherd; Andrea Kelly; Babette S Zemel; Struan F A Grant
Journal:  J Bone Miner Res       Date:  2015-05-26       Impact factor: 6.741

Review 10.  Genetics of pediatric bone strength.

Authors:  Jonathan A Mitchell; Diana L Cousminer; Babette S Zemel; Struan F A Grant; Alessandra Chesi
Journal:  Bonekey Rep       Date:  2016-07-20
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