Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population
Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population
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DOI：
10.1111/j.1398-9995.2006.01072.x
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发表时间：
2006-03-01
期刊：
影响因子：
12.4
通讯作者：
Nordenskjold, M
中科院分区：
文献类型：
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作者：
Bu, LM;Bradley, M;Nordenskjold, M
背景：特应性皮炎（AD）是一种遗传性、瘙痒性、慢性、复发性炎症性皮肤病，由基因和环境因素之间的多重相互作用导致。我们先前在109个瑞典家族中发现了几个在染色体3q14、13q14、15q14 - 15和17q21上显示出提示性连锁的位点，以及与染色体1p32、4q24 - 26和21q21较弱的连锁。
方法：为了证实与染色体21的连锁，我们在另一组295个家族中使用染色体21上的其他微卫星标记进行了重复连锁分析。
结果：在扩展的样本中，对于半定量变量测量（AD的严重程度），在21q21区域的Z值为2.40（P < 7.4×10⁻⁴）。当将这两个数据集合并为404个家族并根据哮喘状况分层时，仅在同时患有哮喘的AD患者组中在两个不同区域发现了提示性连锁（Z值分别为2.45，P < 7.4×10⁻⁴以及2.69，P < 7.4×10⁻⁴）。
结论：我们的结果表明21q21可能包含一个调节AD严重程度的易感基因，特别是在与哮喘合并的情况下。
Background: Atopic dermatitis (AD) is a hereditary, pruritic, chronic, relapsing, inflammatory skin disease resulting from multiplex interactions between genes and environmental factors. We have previously found several loci showing suggestive linkage on chromosomes 3q14, 13q14, 15q14-15 and 17q21, and weaker linkage to chromosomes 1p32, 4q24-26 and 21q21 in 109 Swedish families.Methods: In order to confirm the linkage to chromosome 21, we carried out a replication linkage analysis with additional microsatellite markers on chromosome 21 in another set of 295 families.Results: In the extended material, the Z-score was 2.40 (P < 7.4 x 10(-4)) in the region 21q21 for a semi-quantitative variable measurement; the severity of AD. When combining the two data sets into 404 families and stratifying according to asthma status, suggestive linkage was found only in the group of AD patients who also had asthma (Z-score 2.45, P < 7.4 x 10(-4) and 2.69, P < 7.4 x 10(-4)) in two different regions.Conclusions: Our results suggest that 21q21 could contain a susceptibility gene modulating the severity of AD especially in combination with asthma.