瑞典人群中21号染色体上特应性皮炎的易感基因座

Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population.

作者信息

Bu L M, Bradley M, Söderhäll C, Wahlgren C F, Kockum I, Nordenskjold M

机构信息

Department of Molecular Medicine, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden.

出版信息

Allergy. 2006 May;61(5):617-21. doi: 10.1111/j.1398-9995.2006.01072.x.

DOI:10.1111/j.1398-9995.2006.01072.x

PMID:16629793

Abstract

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.

摘要

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，由基因与环境因素之间的多重相互作用引起。我们之前在109个瑞典家庭中发现了几个在3q14、13q14、15q14 - 15和17q21染色体上显示出可能连锁的位点，以及与1p32、4q24 - 26和21q21染色体较弱的连锁。

方法

为了确认与21号染色体的连锁关系，我们在另一组295个家庭中使用21号染色体上的额外微卫星标记进行了重复连锁分析。

结果

在扩展材料中，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 x 10(-4)）。当将两个数据集合并为404个家庭并根据哮喘状态分层时，仅在患有哮喘的AD患者组中发现了可能的连锁关系（在两个不同区域的Z值分别为2.45，P < 7.4 x 10(-4)和2.69，P < 7.4 x 10(-4)）。