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骨关节炎的遗传学

Genetics of osteoarthritis.

作者信息

Jordan Joanne M, Kraus Virginia B, Hochberg Marc C

机构信息

Thurston Arthritis Research Center, University of North Carolina, 3310 Doc. J. Thurston, Jr. Building, CB # 7330, Chapel Hill, NC 27599, USA.

出版信息

Curr Rheumatol Rep. 2004 Feb;6(1):7-13. doi: 10.1007/s11926-004-0078-0.

DOI:10.1007/s11926-004-0078-0
PMID:14713397
Abstract

Osteoarthritis (OA) is a major cause of morbidity, physical limitation, and health care use, including total joint arthroplasty. That OA has a genetic component has been known for some time, but only recently has formal study of this occurred. Twin studies, segregation analyses, linkage analyses, and candidate gene association studies have generated important information about inheritance patterns and the location in the genome of potentially causative mutations. Results across studies are not always concordant, however; this is likely the result of variations in study populations, disease definitions, evaluation of control subjects, and statistical analysis. Although the genetics of OA is complex and not completely understood, there is cause for optimism as rapidly improving technologies make the quest for the genes responsible for OA increasingly within reach. Family history of OA and joint replacement for OA should be assessed in the context of other potentially modifiable risk factors to attempt to alter patient outcome.

摘要

骨关节炎(OA)是导致发病、身体功能受限以及包括全关节置换术在内的医疗保健需求的主要原因。OA具有遗传因素这一点已为人所知有一段时间了,但直到最近才对此进行正式研究。双胞胎研究、分离分析、连锁分析以及候选基因关联研究已经产生了关于遗传模式以及潜在致病突变在基因组中位置的重要信息。然而,各项研究的结果并不总是一致的;这可能是由于研究人群、疾病定义、对照受试者评估以及统计分析存在差异所致。尽管OA的遗传学很复杂且尚未完全明了,但随着技术的迅速发展使得寻找导致OA的基因越来越可行,因此仍有理由感到乐观。应在其他可能可改变的风险因素背景下评估OA家族史和因OA进行的关节置换情况,以试图改变患者的预后。

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2
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本文引用的文献

1
GENETIC FACTORS IN GENERALIZED OSTEO-ARTHROSIS.全身性骨关节炎的遗传因素
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Search for linkage between hand osteoarthritis and 11q 12-13 chromosomal segment.寻找手部骨关节炎与11号染色体q12 - 13区段之间的连锁关系。
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Osteoarthritis Cartilage. 2008 Sep;16(9):1054-9. doi: 10.1016/j.joca.2007.12.010. Epub 2008 Mar 4.
Arthritis Rheum. 2003 Jul;48(7):1913-22. doi: 10.1002/art.11046.
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Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene.骨形态发生蛋白5作为潜在骨关节炎易感基因的遗传关联分析
Rheumatology (Oxford). 2003 Jul;42(7):911-2. doi: 10.1093/rheumatology/keg223.
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Genetics of osteoarthritis and potential for drug development.骨关节炎的遗传学与药物开发潜力。
Curr Opin Pharmacol. 2003 Jun;3(3):295-9. doi: 10.1016/s1471-4892(03)00018-3.
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Association of erosive hand osteoarthritis with a single nucleotide polymorphism on the gene encoding interleukin-1 beta.侵蚀性手部骨关节炎与白细胞介素-1β编码基因上的单核苷酸多态性的关联。
Osteoarthritis Cartilage. 2003 Jun;11(6):394-402. doi: 10.1016/s1063-4584(03)00054-2.
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Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.全基因组扫描寻找手部骨关节炎:基质金属蛋白酶-3中的一种新突变。
Am J Hum Genet. 2003 Jun;72(6):1448-59. doi: 10.1086/375556. Epub 2003 May 7.
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Primary osteoarthritis of the hip in monozygotic and dizygotic male twins.单卵和双卵男性双胞胎的原发性髋骨关节炎
Twin Res. 2003 Apr;6(2):147-51. doi: 10.1375/136905203321536272.
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Mode of inheritance of hand osteoarthritis in ethnically homogeneous pedigrees.种族同质家系中手部骨关节炎的遗传模式。
Hum Biol. 2002 Dec;74(6):849-60. doi: 10.1353/hub.2003.0009.
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HLA class II is associated with distal interphalangeal osteoarthritis.人类白细胞抗原II类与远端指间关节骨关节炎相关。
Ann Rheum Dis. 2003 Mar;62(3):227-30. doi: 10.1136/ard.62.3.227.