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特应性皮炎的遗传学

The genetics of atopic dermatitis.

作者信息

Chien Yin-Hsiu, Hwu Wuh-Liang, Chiang Bor-Luen

机构信息

Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, 7 Chung-Shan South Road, Taipei, Taiwan, 100, Republic of China.

出版信息

Clin Rev Allergy Immunol. 2007 Dec;33(3):178-90. doi: 10.1007/s12016-007-0041-8.

Abstract

BACKGROUND

Atopic dermatitis (AD) is a complex genetic disorder influenced by environmental factors. The mode of inheritance and genes involved are not clear.

RESULTS

This report here is focusing on the current progress in searching the disease-susceptibility genes of AD via both the linkage studies and candidate gene approaches. Genome-wide linkage studies have identified multiple susceptibility loci on 3q and 17q. Candidate region linkage studies identify other susceptibility loci on 5q23-33, 11q13, and 13q12-14. At least 28 candidate genes have to date been verified in association studies, but only association with genes of interleukin (IL)-4, IL-13, IL-4RA, mast cell chymase, and serine protease inhibitor, kazal-type 5 have been replicated in more than two different studies. More halpotype tests and family-based association studies may help to shed more light for the candidate gene approach.

CONCLUSION

Determining the candidate susceptibility genes for AD is not only helping understanding the pathophysiology but also affecting the response to therapy, which is important in pharmacogenetics. The effect of environmental trigger may also have to be considered to elucidate the real face of the disease.

摘要

背景

特应性皮炎(AD)是一种受环境因素影响的复杂遗传性疾病。其遗传模式和相关基因尚不清楚。

结果

本报告聚焦于通过连锁研究和候选基因方法寻找AD疾病易感基因的当前进展。全基因组连锁研究已在3q和17q上确定了多个易感位点。候选区域连锁研究在5q23 - 33、11q13和13q12 - 14上确定了其他易感位点。迄今为止,至少有28个候选基因在关联研究中得到验证,但只有白细胞介素(IL)-4、IL-13、IL-4RA、肥大细胞糜蛋白酶和丝氨酸蛋白酶抑制剂kazal型5的基因在两项以上不同研究中得到重复验证。更多的单倍型测试和基于家系的关联研究可能有助于为候选基因方法提供更多线索。

结论

确定AD的候选易感基因不仅有助于理解其病理生理学,还会影响治疗反应,这在药物遗传学中很重要。还可能需要考虑环境触发因素的影响,以阐明该疾病的真实情况。

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