Osteoarthritis year 2012 in review: genetics and genomics

被引：28

作者：

van Meurs, J. B. J. ^{[1
,2
]}

Uitterlinden, A. G. ^{[2
,3
]}

机构：

[1] Erasmus MC, Dept Internal Med, Genet Lab, NL-3000 CA Rotterdam, Netherlands

[2] NGI NCHA, Leiden, Netherlands

[3] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands

来源：

OSTEOARTHRITIS AND CARTILAGE | 2012年 / 20卷 / 12期

关键词：

Genetics; Genomics; DNA-variants; Osteoarthritis; WIDE ASSOCIATION; SUSCEPTIBILITY LOCUS; KNEE; GDF5; HIP; MUTATIONS; VARIANTS; RISK; POLYMORPHISM; CARTILAGE;

D O I：

10.1016/j.joca.2012.08.007

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

The field of genetics and genomics is a highly technological driven field that is advancing fast. The purpose of this year in review of genetics and genomics was to highlight the publications that apply these new technologies tools to improve understanding of the pathophysiology of osteoarthritis (OA). In addition, most recent developments in genetics and genomics research and their relevance to OA are discussed in this review. (C) 2012 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.

引用

页码：1470 / 1476

页数：7

共 46 条

[1] Hundreds of variants clustered in genomic loci and biological pathways affect human height [J].

Allen, Hana Lango ;

Estrada, Karol ;

Lettre, Guillaume ;

Berndt, Sonja I. ;

Weedon, Michael N. ;

Rivadeneira, Fernando ;

Willer, Cristen J. ;

Jackson, Anne U. ;

Vedantam, Sailaja ;

Raychaudhuri, Soumya ;

Ferreira, Teresa ;

Wood, Andrew R. ;

Weyant, Robert J. ;

Segre, Ayellet V. ;

Speliotes, Elizabeth K. ;

Wheeler, Eleanor ;

Soranzo, Nicole ;

Park, Ju-Hyun ;

Yang, Jian ;

Gudbjartsson, Daniel ;

Heard-Costa, Nancy L. ;

Randall, Joshua C. ;

Qi, Lu ;

Smith, Albert Vernon ;

Maegi, Reedik ;

Pastinen, Tomi ;

Liang, Liming ;

Heid, Iris M. ;

Luan, Jian'an ;

Thorleifsson, Gudmar ;

Winkler, Thomas W. ;

Goddard, Michael E. ;

Lo, Ken Sin ;

Palmer, Cameron ;

Workalemahu, Tsegaselassie ;

Aulchenko, Yurii S. ;

Johansson, Asa ;

Zillikens, M. Carola ;

Feitosa, Mary F. ;

Esko, Tonu ;

Johnson, Toby ;

Ketkar, Shamika ;

Kraft, Peter ;

Mangino, Massimo ;

Prokopenko, Inga ;

Absher, Devin ;

Albrecht, Eva ;

Ernst, Florian ;

Glazer, Nicole L. ;

Hayward, Caroline .

NATURE, 2010, 467 (7317) :832-838

[2]

arcOGEN Consortium and arcOGEN Collaborators, 2012, LANCET

[3] Increased Interleukin-1β Gene Expression in Peripheral Blood Leukocytes Is Associated With Increased Pain and Predicts Risk for Progression of Symptomatic Knee Osteoarthritis [J].

Attur, Mukundan ;

Belitskaya-Levy, Ilana ;

Oh, Cheongeun ;

Krasnokutsky, Svetlana ;

Greenberg, Jeffrey ;

Samuels, Jonathan ;

Smiles, Stephen ;

Lee, Sicy ;

Patel, Jyoti ;

Al-Mussawir, Hayf ;

McDaniel, Gary ;

Kraus, Virginia Byers ;

Abramson, Steven B. .

ARTHRITIS AND RHEUMATISM, 2011, 63 (07) :1908-1917

[4] Exome sequencing as a tool for Mendelian disease gene discovery [J].

Bamshad, Michael J. ;

Ng, Sarah B. ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Emond, Mary J. ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755

[5] Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis [J].

Betancourt, Martha C. Castano ;

Cailotto, Frederic ;

Kerkhof, Hanneke J. ;

Cornelis, Frederique M. F. ;

Doherty, Sally A. ;

Hart, Deborah J. ;

Hofman, Albert ;

Luyten, Frank P. ;

Maciewicz, Rose A. ;

Mangino, Massimo ;

Metrustry, Sarah ;

Muir, Kenneth ;

Peters, Marjolein J. ;

Rivadeneira, Fernando ;

Wheeler, Maggie ;

Zhang, Weiya ;

Arden, Nigel ;

Spector, Tim D. ;

Uitterlinden, Andre G. ;

Doherty, Michael ;

Lories, Rik J. U. ;

Valdes, Ana M. ;

van Meurs, Joyce B. J. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (21) :8218-8223

[6] Novel family-based approaches to genetic risk in thrombosis [J].

Blangero, J ;

Williams, JT ;

Almasy, L .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2003, 1 (07) :1391-1397

[7] Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues [J].

Bos, Steffan D. ;

Bovee, Judith V. M. G. ;

Duijnisveld, Bouke J. ;

Raine, Emma V. A. ;

Dalen, Wouter Jvan ;

Ramos, Yolande F. M. ;

van der Breggen, Ruud ;

Nelissen, Rob G. H. H. ;

Slagboom, P. Eline ;

Loughlin, John ;

Meulenbelt, Ingrid .

ANNALS OF THE RHEUMATIC DISEASES, 2012, 71 (07) :1254-1258

[8] COG5 INHIBITION INDUCES GLYCOSYLATION DEFECTS AFFECTING CHONDROGENESIS AND INTERFERING WITH WNT, BUT NOT BMP SIGNALING [J].

Cailotto, F. ;

Luyten, F. P. ;

Lories, R. J. .

OSTEOARTHRITIS AND CARTILAGE, 2012, 20 :S142-S143

[9] Spondylo-epi-metaphyseal dysplasia [J].

Cormier-Daire, Valerie .

BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY, 2008, 22 (01) :33-44

[10] A Variant in MCF2L Is Associated with Osteoarthritis [J].

Day-Williams, Aaron G. ;

Southam, Lorraine ;

Panoutsopoulou, Kalliope ;

Rayner, Nigel W. ;

Esko, Tonu ;

Estrada, Karol ;

Helgadottir, Hafdis T. ;

Hofman, Albert ;

Ingvarsson, Throvaldur ;

Jonsson, Helgi ;

Keis, Aime ;

Kerkhof, Hanneke J. M. ;

Thorleifsson, Gudmar ;

Arden, Nigel K. ;

Carr, Andrew ;

Chapman, Kay ;

Deloukas, Panos ;

Loughlin, John ;

McCaskie, Andrew ;

Ollier, William E. R. ;

Ralston, Stuart H. ;

Spector, Timothy D. ;

Wallis, Gillian A. ;

Wilkinson, J. Mark ;

Aslam, Nadim ;

Birell, Fraser ;

Carluke, Ian ;

Joseph, John ;

Rai, Ashok ;

Reed, Mike ;

Walker, Kirsten ;

Doherty, Sally A. ;

Jonsdottir, Ingileif ;

Maciewicz, Rose A. ;

Muir, Kenneth R. ;

Metspalu, Andres ;

Rivadeneira, Fernando ;

Stefansson, Kari ;

Styrkarsdottir, Unnur ;

Uitterlinden, Andre G. ;

van Meurs, Joyce B. J. ;

Zhang, Weiya ;

Valdes, Ana M. ;

Doherty, Michael ;

Zeggini, Eleftheria .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (03) :446-450

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