The genetics of atopic dermatitis

被引:26
作者
Chien, Yin-Hsiu [1 ,2 ]
Hwu, Wuh-Liang [1 ,2 ]
Chiang, Bor-Luen [1 ]
机构
[1] Natl Taiwan Univ, Coll Med, Dept Pediat, Natl Taiwan Univ Hosp, Taipei 100, Taiwan
[2] Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
基金
英国惠康基金;
关键词
atopic dermatitis; candidate genes; genome-wide screen;
D O I
10.1007/s12016-007-0041-8
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
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.
引用
收藏
页码:178 / 190
页数:13
相关论文
共 137 条
[61]   No evidence for an association between a variant of the mast cell chymase gene and atopic dermatitis based on case-control and haplotype-relative-risk analyses [J].
Kawashima, T ;
Noguchi, E ;
Arinami, T ;
Kobayashi, K ;
Otsuka, F ;
Hamaguchi, H .
HUMAN HEREDITY, 1998, 48 (05) :271-274
[62]   Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families [J].
Kawashima, T ;
Noguchi, E ;
Arinami, T ;
Yamakawa-Kobayashi, K ;
Nakagawa, H ;
Otsuka, F ;
Hamaguchi, H .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (06) :502-504
[63]   Uteroglobin gene polymorphisms affect the progression of immunoglobulin A nephropathy by modulating the level of uteroglobin expression [J].
Kim, YS ;
Kang, DH ;
Kwon, DY ;
Park, WY ;
Kim, H ;
Lee, DS ;
Lim, CS ;
Han, JS ;
Kim, S ;
Lee, JS .
PHARMACOGENETICS, 2001, 11 (04) :299-305
[64]   Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides [J].
Komatsu, N ;
Takata, M ;
Otsuki, N ;
Ohka, R ;
Amano, O ;
Takehara, K ;
Saijoh, K .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 118 (03) :436-443
[65]   Lack of association between atopic eczema/dermatitis syndrome and polymorphisms in the promoter region of RANTES and regulatory region of MCP-1 [J].
Kozma, GT ;
Falus, A ;
Bojszkó, A ;
Krikovszky, D ;
Szabó, T ;
Nagy, A ;
Szalai, C .
ALLERGY, 2002, 57 (02) :160-163
[66]  
Kruse S, 1999, IMMUNOLOGY, V96, P365
[67]   SPINK5 polymorphism is associated with disease severity and food allergy in children with atopic dermatitis [J].
Kusunoki, T ;
Okafuji, I ;
Yoshioka, T ;
Saito, M ;
Nishikomori, R ;
Heike, T ;
Sugai, M ;
Shimizu, A ;
Nakahata, T .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2005, 115 (03) :636-638
[69]  
LARSEN FS, 1986, J AM ACAD DERMATOL, V15, P487
[70]   Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis [J].
Lee, HJ ;
Ha, SJ ;
Han, H ;
Kim, JW .
CLINICAL AND EXPERIMENTAL ALLERGY, 2001, 31 (12) :1867-1874