意大利东北部患过敏性哮喘家族中19号染色体上的特应性相关联情况。
Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma.
作者信息
Venanzi S, Malerba G, Galavotti R, Lauciello M C, Trabetti E, Zanoni G, Pescollderungg L, Martinati L C, Boner A L, Pignatti P F
机构信息
Department of Mother and Child, Biology and Genetics (DMIBG), University of Verona, Verona, Italy.
出版信息
Clin Exp Allergy. 2001 Aug;31(8):1220-4. doi: 10.1046/j.1365-2222.2001.01132.x.
BACKGROUND
Allergic asthma is a multifactorial disease for which there is a widely assessed, although poorly understood, genetic involvement. Genome-wide screens reported evidence for linkage of allergic asthma-related phenotypes to several chromosomal locations. Markers on chromosome 19 have been linked to allergic asthma phenotypes in different populations in independent studies.
OBJECTIVE
The aim of this study was to perform a genetic linkage analysis on chromosome 19 to search for DNA markers linked to phenotypes related to allergic asthma.
METHODS
Using non-parametric multipoint linkage analysis on a total of 22 random DNA markers in 2 stages, a sample of 111 families (542 subjects) from north-eastern Italy, recruited through an asthmatic allergic proband, was investigated. Phenotypes examined were: clinical asthma, total serum elevated IgE, skin prick test positivity, bronchial hyper-responsiveness, and atopy defined as skin prick test positivity and/or elevated IgE. Simulation studies were performed to confirm the significance of the results.
RESULTS
A novel linkage of atopy and skin prick test positivity to marker D19S601 (19q13.3) was found. Modest evidence for linkage of atopy, skin prick test positivity, and IgE was also found to marker D19S591 (19p13.3). Simulation analysis for atopy gave an NPL-Z > 3.326 in 2 replicates out of 1000 (P = 0.002) for D19S601, and an NPL-Z > 2.56 in 16 replicates out of 1000 (P = 0.016) for D19S591.
CONCLUSIONS
On chromosome 19, suggestive linkage of atopy and skin prick test positivity with marker D19S601 (19q13.3) and modest evidence of linkage of marker D19S591 (19p13.3) to the atopic phenotypes investigated were found. These results suggest that these regions may contain susceptibility loci associated to atopic phenotypes.
背景
过敏性哮喘是一种多因素疾病，其遗传因素虽已得到广泛评估，但了解甚少。全基因组筛查报告了过敏性哮喘相关表型与几个染色体位置存在连锁的证据。在独立研究中，19号染色体上的标记已与不同人群的过敏性哮喘表型相关联。
目的
本研究旨在对19号染色体进行遗传连锁分析，以寻找与过敏性哮喘相关表型连锁的DNA标记。
方法
通过一名哮喘过敏先证者招募了来自意大利东北部的111个家庭（542名受试者），分两个阶段对总共22个随机DNA标记进行非参数多点连锁分析。所检测的表型包括：临床哮喘、血清总IgE升高、皮肤点刺试验阳性、支气管高反应性，以及定义为皮肤点刺试验阳性和/或IgE升高的特应性。进行模拟研究以确认结果的显著性。
结果
发现特应性和皮肤点刺试验阳性与标记D19S601（19q13.3）存在新的连锁关系。还发现特应性、皮肤点刺试验阳性和IgE与标记D19S591（19p13.3）存在适度的连锁证据。特应性的模拟分析显示，对于D19S601，在1000次重复中有2次NPL-Z>3.326（P = 0.002），对于D19S591，在1000次重复中有16次NPL-Z>2.56（P = 0.016）。
结论
在19号染色体上，发现特应性和皮肤点刺试验阳性与标记D19S601（19q13.3）存在提示性连锁关系，并且标记D19S591（19p13.3）与所研究的特应性表型存在适度的连锁证据。这些结果表明，这些区域可能包含与特应性表型相关的易感基因座。
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