Haagerup A, Bjerke T, Schøitz P O, Binderup H G, Dahl R, Kruse T A
Institute of Human Genetics, Aarhus University, Aarhus, Denmark.
Eur J Hum Genet. 2001 Dec;9(12):945-52. doi: 10.1038/sj.ejhg.5200753.
Allergic rhinitis is a common disease of complex inheritance and is characterised by mucosal inflammation caused by allergen exposure. The genetics of closely related phenotypes such as asthma, atopy and to some extend atopic dermatitis has attracted attention in recent years. Genetic reports of allergic rhinitis on the contrary have as yet been most sparse. To identify candidate regions holding genes for allergic rhinitis we performed a total genome-scan on affected sib-pair families. From 100 Danish sib-pair families selected for allergy, families containing sib-pairs matching a phenotype definition of both clinical allergic rhinitis and confirmed specific allergy were chosen. Thirty-three affected sib-pair families qualified for the scan that was undertaken using 446 microsatellite markers. Non-parametric linkage results were obtained from MAPMAKER/SIBS computer program. The study revealed one major candidate region on chromosome 4q24-q27 (LOD=2.83) and eight minor candidate regions 2q12-q33, 3q13, 4p15-q12, 5q13-q15, 6p24-p23, 12p13, 22q13, and Xp21 (LOD=1.04-1.63) likely to contain susceptibility genes for allergic rhinitis. Our findings did not support a previous report of linkage of allergic rhinitis to chromosome 12q14-q24 but they added positive evidence to the asthma and atopy candidate regions 2q33 and 6p23. Further identification of the specific genes involved in allergic rhinitis will give opportunities for improved diagnosis and treatment.
变应性鼻炎是一种具有复杂遗传特征的常见疾病，其特征为变应原暴露引起的黏膜炎症。近年来，哮喘、特应性以及在一定程度上特应性皮炎等密切相关表型的遗传学研究受到了关注。相反，变应性鼻炎的遗传学报告迄今最为稀少。为了确定可能含有变应性鼻炎相关基因的候选区域，我们对受累同胞对家庭进行了全基因组扫描。从100个因过敏而入选的丹麦同胞对家庭中，选择了符合临床变应性鼻炎和确诊的特异性过敏表型定义的同胞对家庭。33个受累同胞对家庭符合扫描条件，扫描使用了446个微卫星标记。非参数连锁结果通过MAPMAKER/SIBS计算机程序获得。该研究在4q24 - q27染色体上发现了一个主要候选区域（LOD = 2.83），以及八个次要候选区域2q12 - q33、3q13、4p15 - q12、5q13 - q15、6p24 - p23、12p13、22q13和Xp21（LOD = 1.04 - 1.63），这些区域可能含有变应性鼻炎的易感基因。我们的研究结果不支持先前关于变应性鼻炎与12q14 - q24染色体连锁的报告，但为哮喘和特应性候选区域2q33和6p23提供了阳性证据。进一步鉴定参与变应性鼻炎的特定基因将为改善诊断和治疗提供机会。
