Investigations in generalized osteoarthritis.: Part 1:: Genetic study of Heberden's nodes
Investigations in generalized osteoarthritis.: Part 1:: Genetic study of Heberden's nodes
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DOI：
10.1016/j.joca.2005.11.016
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发表时间：
2006-05-01
影响因子：
7
通讯作者：
Schaeller, Th.
中科院分区：
文献类型：
--
作者：
Irlenbusch, U.;Schaeller, Th.
目的：在目前的分子遗传学研究之前，所有关于Heberden淋巴结遗传易感性的可用数据都是基于20世纪40年代Stecher的一次调查。关于Heberden淋巴结与广泛性骨关节炎（GOA）的相关性，文献中存在争议。我们自己的流行病学和临床调查支持这种相关性。因此，关于Stecher所描述的显著遗传是否正确以及Heberden淋巴结是否确实可以用作GOA的遗传标记的问题出现了。方法：通过对106例Heberden关节炎患者的临床研究，从指标病例中筛选出88个家族。我们总共包括931名家庭成员，最多四代人。首先，建立家族的家谱。随后，我们检查了患者的手部Heberden淋巴结，并在家访期间完成了家谱树。结果：在分析的88个家庭中，共有152例Heberden关节炎患者（男性26例，女性126例）。对93例Heberden淋巴结患者156个后代（男74例，女82例）进行家谱分析，提示常染色体显性遗传。鉴于后代的年龄相关表现和年龄模式，我们假设女性为杂合子表现（显性基因作用），男性为纯合子表现（隐性基因作用）。结论：系谱分析并没有与Stecher所描述的相当显著的遗传形成对比，而是支持了这种表现在女性中是显性的，在男性中是隐性的假设。从我们的观点来看，这种遗传与最近的遗传分析并不矛盾，遗传分析显示遗传缺陷可能导致遗传性骨关节炎（OA）。(c) 2005年国际骨关节炎研究学会。Elsevier Ltd.出版。版权所有。
Objective: Until the current molecular genetic investigations, all available data concerning the genetic predisposition to Heberden's nodes are based on a single investigation by Stecher in the 1940s. There is controversy in the literature about the correlation between Heberden's nodes and generalized osteoarthritis (GOA). Our own epidemiological and clinical investigations support this correlation. Therefore, the question arises as to whether the: remarkable inheritance described by Stecher is correct and whether Heberden's nodes can indeed be used as a genetic marker for GOA.Methods: From our clinical trial on 106 patients with Heberden's arthritis, we could identify 88 families from index cases. Altogether, we included 931 family members over a maximum of four generations. First of all, the genealogical trees of the families were established. Subsequently, we examined the patients' hands in respect of Heberden's nodes and completed the genealogical trees during home visits.Results: In the 88 families analyzed, 152 patients with manifest Heberden's arthritis were listed (26 males, 126 females). The genealogical analysis of 156 descendants (74 males, 82 females) of 93 patients with Heberden's nodes suggests autosomal dominant inheritance. In view of the age-related manifestation and age pattern of the descendants, we postulate a heterozygous manifestation for women (dominant gene action) and only a homozygous manifestation for men (recessive gene action).Conclusions: The genealogic analysis does not contrast with the quite remarkable inheritance described by Stecher but rather supports the hypothesis that manifestation is dominant in females and recessive in males. From our point of view, this heredity does not contradict latest genetic assays which show the possibility of genetic defects causing the hereditary osteoarthritis (OA). (c) 2005 OsteoArthritis Research Society International. Published by Elsevier Ltd. All rights reserved.