Asthma and atopy - a total genome scan for susceptibility genes
Asthma and atopy - a total genome scan for susceptibility genes
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DOI：
10.1034/j.1398-9995.2002.23523.x
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发表时间：
2002-08-01
期刊：
影响因子：
12.4
通讯作者：
Kruse, TA
中科院分区：
文献类型：
--
作者：
Haagerup, A;Bjerke, T;Kruse, TA
背景：变应性哮喘是一种日益常见的复杂遗传疾病。一些研究已经提出了候选区域，但遗传异质性、种族差异和不同的研究设计可能在一定程度上解释了缺乏确定和确认的易感基因。对不同人群的调查将进一步阐明这一主题。因此，我们评估了来自100个丹麦过敏家庭的39对、45对和57对兄弟姐妹的过敏性哮喘和总IgE和特异性IgE升高情况。方法：选择符合狭窄表型定义的患病兄弟姐妹对，分别为特应性、过敏性哮喘和总IgE升高三种表型。我们使用446个微卫星标记进行了全基因组扫描，并从MAPMAKER/SIBS计算机程序中获得了非参数连锁结果。结果：我们的研究发现了染色体1p36、3q21-q22、5q31和6p24-p22上的4个候选区域（MLS >2），以及15个候选区域（1 < MLS < 2）可能含有哮喘和特应性易感基因。我们没有发现与候选基因tnf - β、fcer1 β和il4r - α的关联，除了对哮喘表型与tnf - β的关联的微弱支持（MLS = 1.18）。结论：我们发现了两个新的哮喘和特应性基因座1p36和3q21-q22的证据，并支持丹麦人群与先前报道的七个候选区域的联系。
Background: allergic asthma is an increasingly common disease of complex inheritance. Several studies have suggested candidate regions, but genetic heterogeneity, ethnic differences and varying study designs may in part explain the lack of identified and confirmed susceptibility genes. Investigation of different populations will further clarify the topic. We therefore evaluated allergic asthma and increased total and specific IgE in 39, 45 and 57 sib-pairs from 100 Danish allergy families.Methods: affected sib-pairs meeting a narrow phenotype definition were selected for the three phenotypes atopy, allergic asthma and increased total IgE. We performed a total genome scan using 446 microsatellite markers and obtained nonparametric linkage results from the MAPMAKER/SIBS computer program.Results: Our study revealed four candidate regions (MLS > 2) on chromosome 1p36, 3q21-q22, 5q31 and 6p24-p22, and 15 candidate regions (1 < MLS < 2) that may contain susceptibility genes for asthma and atopy. We did not find linkage to the candidate genes TNF-beta, FcER1beta and Il4R-alpha, except for weak support for linkage of the asthma phenotype to TNF-beta (MLS = 1.18).Conclusions: We found evidence for two new asthma and atopy loci, 1p36 and 3q21-q22, and supported linkage in the Danish population to seven previously reported candidate regions.