Atopic eczema/dermatitis syndrome – a genetically complex disease. New advances in discovering the genetic contribution
Atopic eczema/dermatitis syndrome – a genetically complex disease. New advances in discovering the genetic contribution
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特应性湿疹/皮炎综合征——一种复杂的遗传疾病，发现遗传因素的新进展。
DOI：
10.1034/j.1398-9995.2003.02162.x
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发表时间：
2003
期刊：
影响因子：
12.4
通讯作者：
T. Bieber
中科院分区：
文献类型：
--
作者：
H. Klüken;T. Wienker;T. Bieber
由于分子遗传学的最新发展，在了解人类遗传疾病的病因学方面取得了巨大进展。据推测，单基因疾病的大多数致病基因将在未来几年内为人所知。然而，这一进展主要限于罕见的单基因疾病。自从克隆格（Cloninger）（1）——寻找易患精神分裂症的基因——提出了关于精神分裂症遗传的复杂假设以来，医学遗传学开始发生转变，从关注单基因疾病转向关注遗传复杂疾病。尽管如此，在大多数情况下，谈论后基因组似乎还为时过早。随着我们从遗传学植根于高外显率的单基因疾病的时代，到对外显率相对较低的多基因疾病和性状有了更高的认识（但了解有限），后孟德尔似乎更加准确。复杂疾病的病因是多因素的，并且基于多种相互作用的遗传机制和其他环境因素。如今，许多疾病，如动脉高血压、糖尿病、炎症性肠病、癫痫、精神分裂症、偏头痛、牛皮癣、哮喘和特应性湿疹/皮炎综合征（AEDS）被认为具有复杂的遗传基因。一般来说，它们的人群患病率比罕见的单基因疾病高得多，因此提高对复杂疾病病理学的了解在社会经济方面具有高度相关性。本综述旨在重点关注 AEDS 作为一种具有多因素病理生理背景的复杂疾病的研究结果。过敏性疾病的命名根据 EAACI 命名立场文件 (2) 使用。
Due to recent developments in molecular genetics great progress has been achieved in understanding the etiology of human genetic diseases. Presumably, most causative genes for monogenic diseases will be known within the next few years. However, this progress is mainly limited to the rare monogenic diseases. Since Cloninger (1) – searching for genes predisposing to schizophrenia – stated a complex hypotheses about the inheritance of schizophrenia, a shift within medical genetics started, from the focus on monogenic diseases to genetically complex diseases. Still, in most contexts, talk about being postgenomic seems a little premature. Post-Mendelian seems more accurate as we move from an era in which genetics has been rooted in monogenic diseases with high penetrance to a greater awareness (but limited understanding) of polygenic diseases and traits often with relatively low penetrance. The etiology of complex diseases is multifactorial and based on several interacting genetic mechanisms and additional environmental factors. Today, many diseases like arterial hypertension, diabetes mellitus, inflammatory bowel disease, epilepsy, schizophrenia, migraine, psoriasis, asthma and atopic eczema/dermatitis syndrome (AEDS) are seen as genetically complex. Generally, they have a much higher population prevalence than the rare monogenic diseases, hence an improved understanding of the pathology of complex diseases is highly relevant in socioeconomic terms. The present review is aimed to focus on research results on AEDS as a complex disease with a multifactorial pathophysiologic background. The nomenclature of allergic diseases is used according to the EAACI Nomenclature Position Paper (2).
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复杂性状的遗传分析方法：哮喘和特应性。
影响因子：
12.4
作者：
Marsh,DG
通讯作者：
Marsh,DG
影响因子：
56.9
作者：
MARSH, DG;NEELY, JD;BEATY, TH
通讯作者：
BEATY, TH
影响因子：
6.5
作者：
Beyer, K;Nickel, R;Wahn, U
通讯作者：
Wahn, U
影响因子：
9.8
作者：
Xu, JF;Meyers, DA;Cox, NJ
通讯作者：
Cox, NJ
哈特派特应性易感性等位基因的全基因组筛查。
DOI：
--
发表时间：
1999
期刊：
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.
影响因子：
--
作者：
Ober,C;Tsalenko,A;Willadsen,S;Newman,D;Daniel,R;Wu,X;Andal,J;Hoki,D;Schneider,D;True,K;Schou,C;Parry,R;Cox,N
通讯作者：
Cox,N