Genetics of IL-13 and functional relevance of IL-13 variants

被引:51
作者
Vercelli, Donata [1 ,2 ]
机构
[1] Univ Arizona, Coll Med, Arizona Resp Ctr, Funct Genom Lab, Tucson, AZ 85724 USA
[2] Univ Arizona, Coll Med, Dept Cell Biol & Anat, Tucson, AZ 85724 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1097/00130832-200210000-00004
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Studies in both humans and mice clearly show that interleukin (IL)-13 is a central regulator of allergic inflammation. Numerous single nucleotide polymorphisms have been recently identified in the IL-13 gene and have been found to be associated with allergic and/or asthmatic phenotypes in different populations throughout the world. Furthermore, functional genomics studies are highlighting mechanistic pathways that may link genetic variation in IL-13 and disease. IL-13 is therefore an ideal model to study the impact of genetic variation on the regulation of gene expression and function in complex diseases. (C) 2002 Lippincott Williams & Wilkins.
引用
收藏
页码:389 / 393
页数:5
相关论文
共 33 条
[1]   Upregulation of IL-13 concentration in vivo by the IL13 variant associated with bronchial asthma [J].
Arima, K ;
Umeshita-Suyama, R ;
Sakata, Y ;
Akaiwa, M ;
Mao, XQ ;
Enomoto, T ;
Dake, Y ;
Shimazu, S ;
Yamashita, T ;
Sugawara, N ;
Brodeur, S ;
Geha, R ;
Puri, RK ;
Sayegh, MH ;
Adra, CN ;
Hamasaki, N ;
Hopkin, JM ;
Shirakawa, T ;
Izuhara, K .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2002, 109 (06) :980-987
[2]   Association between a sequence variant in the IL-4 gene promoter and FEV1 in asthma [J].
Burchard, EG ;
Silverman, EK ;
Rosenwasser, LJ ;
Borish, L ;
Yandava, C ;
Pillari, A ;
Weiss, ST ;
Hasday, J ;
Lilly, CM ;
Ford, JG ;
Drazen, JM .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 1999, 160 (03) :919-922
[3]   The single nucleotide polymorphism-1112C→T attenuates IL-13 transcription and creates an Oct-1 binding site that interferes with STAT-1 dependent promoter activation [J].
Cameron, L ;
Kabesch, M ;
Vercelli, D .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2002, 109 (01) :S255-S255
[4]   Complex promoter and coding region β2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness [J].
Drysdale, CM ;
McGraw, DW ;
Stack, CB ;
Stephens, JC ;
Judson, RS ;
Nandabalan, K ;
Arnold, K ;
Ruano, G ;
Liggett, SB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (19) :10483-10488
[5]   IL-13 mRNA and immunoreactivity in allergen-induced rhinitis: Comparison with IL-4 expression and modulation by topical glucocorticoid therapy [J].
Ghaffar, O ;
Laberge, S ;
Jacobson, MR ;
Lowhagen, O ;
Rak, S ;
Durham, SR ;
Hamid, Q .
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 1997, 17 (01) :17-24
[6]   A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children [J].
Graves, PE ;
Kabesch, M ;
Halonen, M ;
Holberg, CJ ;
Baldini, M ;
Fritzsch, C ;
Weiland, SK ;
Erickson, RP ;
von Mutius, E ;
Martinez, FD .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2000, 105 (03) :506-513
[7]   Requirement for IL-13 independently of IL-4 in experimental asthma [J].
Grünig, G ;
Warnock, M ;
Wakil, AE ;
Venkayya, R ;
Brombacher, F ;
Rennick, DM ;
Sheppard, D ;
Mohrs, M ;
Donaldson, DD ;
Locksley, RM ;
Corry, DB .
SCIENCE, 1998, 282 (5397) :2261-2263
[8]   Genetic variants of IL-13 signalling and human asthma and atopy [J].
Heinzmann, A ;
Mao, XQ ;
Akaiwa, M ;
Kreomer, RT ;
Gao, PS ;
Ohshima, K ;
Umeshita, R ;
Abe, Y ;
Braun, S ;
Yamashita, T ;
Roberts, MH ;
Sugimoto, R ;
Arima, K ;
Arinobu, Y ;
Yu, B ;
Kruse, S ;
Enomoto, T ;
Dake, Y ;
Kawai, M ;
Shimazu, S ;
Sasaki, S ;
Adra, CN ;
Kitaichi, M ;
Inoue, H ;
Yamauchi, K ;
Tomichi, N ;
Kurimoto, F ;
Hamasaki, N ;
Hopkin, JM ;
Izuhara, K ;
Shirakawa, T ;
Deichmann, KA .
HUMAN MOLECULAR GENETICS, 2000, 9 (04) :549-559
[9]   Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population [J].
Howard, TD ;
Whittaker, PA ;
Zaiman, AL ;
Koppelman, GH ;
Xu, JF ;
Hanley, MT ;
Meyers, DA ;
Postma, DS ;
Bleecker, ER .
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2001, 25 (03) :377-384
[10]   Gene-gene interaction in asthma:: IL4RA and IL13 in a Dutch population with asthma [J].
Howard, TD ;
Koppelman, GH ;
Xu, JF ;
Zheng, SQL ;
Postma, DS ;
Meyers, DA ;
Bleecker, ER .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :230-236