Literature DB >> 22805710

Genetics of osteoporosis from genome-wide association studies: advances and challenges.

J Brent Richards1, Hou-Feng Zheng, Tim D Spector.   

Abstract

Osteoporosis is among the most common and costly diseases and is increasing in prevalence owing to the ageing of our global population. Clinically defined largely through bone mineral density, osteoporosis and osteoporotic fractures have reasonably high heritabilities, prompting much effort to identify the genetic determinants of this disease. Genome-wide association studies have recently provided rapid insights into the allelic architecture of this condition, identifying 62 genome-wide-significant loci. Here, we review how these new loci provide an opportunity to explore how the genetics of osteoporosis can elucidate its pathophysiology, provide drug targets and allow for prediction of future fracture risk.

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Year:  2012        PMID: 22805710     DOI: 10.1038/nrg3228

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  86 in total

1.  Dimorphic effects of Notch signaling in bone homeostasis.

Authors:  Feyza Engin; Zhenqiang Yao; Tao Yang; Guang Zhou; Terry Bertin; Ming Ming Jiang; Yuqing Chen; Lisa Wang; Hui Zheng; Richard E Sutton; Brendan F Boyce; Brendan Lee
Journal:  Nat Med       Date:  2008-02-24       Impact factor: 53.440

Review 2.  Wnt signaling in bone metabolism.

Authors:  Takuo Kubota; Toshimi Michigami; Keiichi Ozono
Journal:  J Bone Miner Metab       Date:  2009-03-31       Impact factor: 2.626

Review 3.  Diagnosis of osteoporosis.

Authors:  J A Kanis
Journal:  Osteoporos Int       Date:  1997       Impact factor: 4.507

4.  Incidence and economic burden of osteoporosis-related fractures in the United States, 2005-2025.

Authors:  Russel Burge; Bess Dawson-Hughes; Daniel H Solomon; John B Wong; Alison King; Anna Tosteson
Journal:  J Bone Miner Res       Date:  2007-03       Impact factor: 6.741

5.  Reduction of vertebral fracture risk in postmenopausal women with osteoporosis treated with raloxifene: results from a 3-year randomized clinical trial. Multiple Outcomes of Raloxifene Evaluation (MORE) Investigators.

Authors:  B Ettinger; D M Black; B H Mitlak; R K Knickerbocker; T Nickelsen; H K Genant; C Christiansen; P D Delmas; J R Zanchetta; J Stakkestad; C C Glüer; K Krueger; F J Cohen; S Eckert; K E Ensrud; L V Avioli; P Lips; S R Cummings
Journal:  JAMA       Date:  1999-08-18       Impact factor: 56.272

6.  Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.

Authors:  Daniel L Koller; Shoji Ichikawa; Dongbing Lai; Leah R Padgett; Kimberly F Doheny; Elizabeth Pugh; Justin Paschall; Siu L Hui; Howard J Edenberg; Xiaoling Xuei; Munro Peacock; Michael J Econs; Tatiana Foroud
Journal:  J Clin Endocrinol Metab       Date:  2010-02-17       Impact factor: 5.958

Review 7.  Proximal events in Wnt signal transduction.

Authors:  Stephane Angers; Randall T Moon
Journal:  Nat Rev Mol Cell Biol       Date:  2009-07       Impact factor: 94.444

8.  Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

Authors:  Annie W C Kung; Su-Mei Xiao; Stacey Cherny; Gloria H Y Li; Yi Gao; Gloria Tso; Kam S Lau; Keith D K Luk; Jian-min Liu; Bin Cui; Min-Jia Zhang; Zhen-lin Zhang; Jin-wei He; Hua Yue; Wia-bo Xia; Lian-mei Luo; Shu-li He; Douglas P Kiel; David Karasik; Yi-Hsiang Hsu; L Adrienne Cupples; Serkalem Demissie; Unnur Styrkarsdottir; Bjarni V Halldorsson; Gunnar Sigurdsson; Unnur Thorsteinsdottir; Kari Stefansson; J Brent Richards; Guangju Zhai; Nicole Soranzo; Ana Valdes; Tim D Spector; Pak C Sham
Journal:  Am J Hum Genet       Date:  2010-01-21       Impact factor: 11.025

9.  Severe osteoporosis in mice lacking osteoclastogenesis inhibitory factor/osteoprotegerin.

Authors:  A Mizuno; N Amizuka; K Irie; A Murakami; N Fujise; T Kanno; Y Sato; N Nakagawa; H Yasuda; S Mochizuki; T Gomibuchi; K Yano; N Shima; N Washida; E Tsuda; T Morinaga; K Higashio; H Ozawa
Journal:  Biochem Biophys Res Commun       Date:  1998-06-29       Impact factor: 3.575

10.  The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals.

Authors:  Martin Ladouceur; Zari Dastani; Yurii S Aulchenko; Celia M T Greenwood; J Brent Richards
Journal:  PLoS Genet       Date:  2012-02-02       Impact factor: 5.917

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  134 in total

Review 1.  MicroRNA variants as genetic determinants of bone mass.

Authors:  Neha S Dole; Anne M Delany
Journal:  Bone       Date:  2015-12-23       Impact factor: 4.398

2.  Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche.

Authors:  Li-Jun Tan; Zhuo-Er Wang; Ke-Hao Wu; Xiang-Ding Chen; Hu Zhu; Shan Lu; Qing Tian; Xiao-Gang Liu; Christopher J Papasian; Hong-Wen Deng
Journal:  J Clin Endocrinol Metab       Date:  2015-08-27       Impact factor: 5.958

3.  Reply to Rational drug repositioning by medical genetics.

Authors:  Philippe Sanseau; Pankaj Agarwal; Michael R Barnes; Tomi Pastinen; J Brent Richards; Lon R Cardon; Vincent Mooser
Journal:  Nat Biotechnol       Date:  2013-12       Impact factor: 54.908

4.  On genome-wide association studies and their meta-analyses: lessons learned from osteoporosis studies.

Authors:  Yong-Jun Liu; Lei Zhang; Yufang Pei; Christopher J Papasian; Hong-Wen Deng
Journal:  J Clin Endocrinol Metab       Date:  2013-06-19       Impact factor: 5.958

5.  An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation.

Authors:  Xiao-Feng Chen; Dong-Li Zhu; Man Yang; Wei-Xin Hu; Yuan-Yuan Duan; Bing-Jie Lu; Yu Rong; Shan-Shan Dong; Ruo-Han Hao; Jia-Bin Chen; Yi-Xiao Chen; Shi Yao; Hlaing Nwe Thynn; Yan Guo; Tie-Lin Yang
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

6.  WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Authors:  Christine M Laine; Kyu Sang Joeng; Philippe M Campeau; Riku Kiviranta; Kati Tarkkonen; Monica Grover; James T Lu; Minna Pekkinen; Maija Wessman; Terhi J Heino; Vappu Nieminen-Pihala; Mira Aronen; Tero Laine; Heikki Kröger; William G Cole; Anna-Elina Lehesjoki; Lisette Nevarez; Deborah Krakow; Cynthia J R Curry; Daniel H Cohn; Richard A Gibbs; Brendan H Lee; Outi Mäkitie
Journal:  N Engl J Med       Date:  2013-05-09       Impact factor: 91.245

Review 7.  The genetics of bone mass and susceptibility to bone diseases.

Authors:  David Karasik; Fernando Rivadeneira; Mark L Johnson
Journal:  Nat Rev Rheumatol       Date:  2016-04-07       Impact factor: 20.543

8.  Bone Density and Timing of Puberty in a Longitudinal Study of Girls.

Authors:  Ashley M Cattran; Heidi J Kalkwarf; Susan M Pinney; Bin Huang; Frank M Biro
Journal:  J Pediatr Adolesc Gynecol       Date:  2014-07-19       Impact factor: 1.814

Review 9.  Genetic profiling and individualized assessment of fracture risk.

Authors:  Tuan V Nguyen; John A Eisman
Journal:  Nat Rev Endocrinol       Date:  2013-02-05       Impact factor: 43.330

10.  Osteoblast-activating peptide exhibits a specific distribution pattern in mouse ovary and may regulate ovarian steroids and local calcium levels.

Authors:  Ahmed E Noreldin; Mahmoud S Gewaily; Islam M Saadeldin; Mosleh M Abomughaid; Asmaa F Khafaga; Yaser H Elewa
Journal:  Am J Transl Res       Date:  2021-06-15       Impact factor: 4.060

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