Interleukin 18 receptor 1 gene polymorphisms are associated with asthma

被引：34
|
作者：
Zhu, Guohua [1 ]
Whyte, Moira K. B. [2 ]
Vestbo, Jorgen [3 ,4 ]
Carlsen, Karin [5 ]
Carlsen, Kai-Hakon [5 ]
Lenney, Warren [6 ]
Silverman, Michael [7 ]
Helms, Peter [8 ]
Pillai, Sreekumar G. [1 ]
机构：
[1] GlaxoSmithKline Inc, Res Triangle Pk, NC 27709 USA
[2] Univ Sheffield, Acad Unit Resp Med, Sheffield, S Yorkshire, England
[3] Kommune Hosp Copenhagen, Inst Prevent Med, Copenhagen, Denmark
[4] Hvidovre Univ Hosp, Dept Resp Med, DK-2650 Hvidovre, Denmark
[5] Ullevaal Univ Hosp, Dept Pediat, Oslo, Norway
[6] N Staffordshire Hosp, Acad Dept Pediat, Directorate Child Hlth, Stoke On Trent, Staffs, England
[7] Univ Leicester, Div Child Hlth, Leicester, Leics, England
[8] Univ Aberdeen, Royal Aberdeen Childrens Hosp, Dept Child Hlth, Aberdeen, Scotland
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2008年 / 16卷 / 09期
关键词：
asthma; IL18R1; genetic association; haplotype analysis; replication;
D O I：
10.1038/ejhg.2008.67
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
The interleukin 18 receptor (IL18R1) gene is a strong candidate gene for sthma. It has been implicated in the pathophysiology of asthma and maps to an asthma susceptibility locus on chromosome 2q12. The possibility of association between polymorphisms in IL18R1 and asthma was examined by genotyping seven SNPs in 294, 342 and 100 families from Denmark, United Kingdom and Norway and conducting family-based association analyses for asthma, atopic asthma and bronchial hyper-reactivity (BHR) phenotypes. Three SNPs in IL18R1 were associated with asthma (0.01131 <= P <= 0.01377), five with atopic asthma (0.00066 <= P <= 0.00405) and two with BHR (0.01450 <= P <= 0.03203) in the Danish population; two SNPs were associated with atopic asthma (0.00397 <= P <= 0.01481) and four with BHR (0.00435 <= P <= 0.03544) in the UK population; four SNPs showed associations with asthma (0.00015 <= P <= 0.03062), two with atopic asthma (0.01269 <= P <= 0.04042) and three with BHR (0.00259 <= P <= 0.01401) in the Norwegian population; five SNPs showed associations with asthma (0.00005 <= P <= 0.03744), five with atopic asthma (0.00001 <= P <= 0.04491) and three with BHR (0.03568 <= P <= 0.04778) in the combined population. Three intronic SNPs (rs1420099, rs1362348 and rs1974675) showed replicated association for at least one asthma-related phenotype. These results demonstrate significant association between polymorphisms in IL18R1 and asthma.
引用
收藏
页码：1083 / 1090
页数：8
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