共 46 条
Identifying novel genes contributing to asthma pathogenesis
被引:25
作者:

Holloway, John W.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Sch Med, Div Infect Inflammat Repair, Southampton, Hants, England

Koppelman, Gerard H.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Sch Med, Div Infect Inflammat Repair, Southampton, Hants, England
机构:
[1] Univ Southampton, Sch Med, Div Infect Inflammat Repair, Southampton, Hants, England
[2] Univ Southampton, Sch Med, Div Human Genet, Southampton, Hants, England
[3] Univ Groningen, Univ med Ctr Groningen, Beatrix Childrens Hosp, Dept Pediat Pulmonol, Groningen, Netherlands
关键词:
asthma;
genetic;
polymorphism;
positional cloning;
replication;
D O I:
10.1097/ACI.0b013e328013d51b
中图分类号:
R392 [医学免疫学];
学科分类号:
100102 ;
摘要:
Purpose of review To illustrate recent examples of novel asthma genes such as those encoding G-protein-coupled receptor for asthma susceptibility, filaggrin and tenascin-C, and to describe the process that is needed to translate these findings to the clinic. Recent findings Many hundreds of studies have been published investigating the association of genetic polymorphisms in candidate, genes with asthma. These genes were selected on the basis of the gene's, product known involvement in the disease process. Moreover, it is the identification of novel genes through hypothesis-independent approaches such as genome-wide linkage studies that is likely to radically alter our understanding of asthma pathophysiology. The identification of a gene is, however, only the first step in a long process that may eventually lead from gene to treatment. This process includes replication, functional studies and, finally, intervention studies. Summary While significant progress has been made in the identification of asthma susceptibility genes, it is clear that issues such as replication: and functional characterization mean that considerably more research is required. This may enable us to realize benefits to patient treatment that studies of the genetic basis of asthma have: the potential to deliver.
引用
收藏
页码:69 / 74
页数:6
相关论文
共 46 条
[1]
Positional cloning of a novel gene influencing asthma from Chromosome 2q14
[J].
Allen, M
;
Heinzmann, A
;
Noguchi, E
;
Abecasis, G
;
Broxholme, J
;
Ponting, CP
;
Bhattacharyya, S
;
Tinsley, J
;
Zhang, YM
;
Holt, R
;
Jones, EY
;
Lench, N
;
Carey, A
;
Jones, H
;
Dickens, NJ
;
Dimon, C
;
Nicholls, R
;
Baker, C
;
Xue, LZ
;
Townsend, E
;
Kabesch, M
;
Weiland, SK
;
Carr, D
;
von Mutius, E
;
Adcock, IM
;
Barnes, PJ
;
Lathrop, GM
;
Edwards, M
;
Moffatt, MF
;
Cookson, WOCM
.
NATURE GENETICS,
2003, 35 (03)
:258-263

Allen, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Heinzmann, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Noguchi, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Abecasis, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Broxholme, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Ponting, CP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Bhattacharyya, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Tinsley, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Zhang, YM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Holt, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Jones, EY
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Lench, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Carey, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Jones, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Dickens, NJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Dimon, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Nicholls, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Baker, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Xue, LZ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Townsend, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Kabesch, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Weiland, SK
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Carr, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

von Mutius, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Adcock, IM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Barnes, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Lathrop, GM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Edwards, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Moffatt, MF
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Cookson, WOCM
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[2]
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
[J].
Chavanas, S
;
Garner, C
;
Bodemer, C
;
Ali, M
;
Hamel-Teillac, D
;
Wilkinson, J
;
Bonafé, JL
;
Paradisi, M
;
Kelsell, DP
;
Ansai, S
;
Mitsuhashi, Y
;
Larrègue, M
;
Leigh, IM
;
Harper, JI
;
Taïeb, A
;
de Prost, Y
;
Cardon, LR
;
Hovnanian, A
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2000, 66 (03)
:914-921

Chavanas, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Garner, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Bodemer, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Ali, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Hamel-Teillac, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Wilkinson, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Bonafé, JL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Paradisi, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Kelsell, DP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Ansai, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Mitsuhashi, Y
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Larrègue, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Leigh, IM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Harper, JI
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Taïeb, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

de Prost, Y
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Cardon, LR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

Hovnanian, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[3]
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1
[J].
Compton, JG
;
DiGiovanna, JJ
;
Johnston, KA
;
Fleckman, P
;
Bale, SJ
.
EXPERIMENTAL DERMATOLOGY,
2002, 11 (06)
:518-526

Compton, JG
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Skin Biol Lab, NIH, Bethesda, MD USA

DiGiovanna, JJ
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Skin Biol Lab, NIH, Bethesda, MD USA

Johnston, KA
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Skin Biol Lab, NIH, Bethesda, MD USA

Fleckman, P
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Skin Biol Lab, NIH, Bethesda, MD USA

Bale, SJ
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Skin Biol Lab, NIH, Bethesda, MD USA
[4]
G protein-coupled receptor 154 gene polymorphism is associated with airway hyperresponsiveness to methacholine in a Chinese population
[J].
Feng, Y
;
Hong, XM
;
Wang, L
;
Jiang, SQ
;
Chen, CZ
;
Wang, BY
;
Yang, JH
;
Fang, Z
;
Zang, TH
;
Xu, XP
;
Xu, X
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2006, 117 (03)
:612-617

Feng, Y
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Hong, XM
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Wang, L
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Jiang, SQ
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Chen, CZ
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Wang, BY
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Yang, JH
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Fang, Z
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Zang, TH
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Xu, XP
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA

Xu, X
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Publ Hlth, Program Populat Genet, Boston, MA 02115 USA
[5]
Anti-IL-5 treatment reduces deposition of ECM proteins in the bronchial subepithelial basement membrane of mild atopic asthmatics
[J].
Flood-Page, P
;
Menzies-Gow, A
;
Phipps, S
;
Ying, S
;
Wangoo, A
;
Ludwig, MS
;
Barnes, N
;
Robinson, D
;
Kay, AB
.
JOURNAL OF CLINICAL INVESTIGATION,
2003, 112 (07)
:1029-1036

Flood-Page, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Menzies-Gow, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Phipps, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Ying, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Wangoo, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Ludwig, MS
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Barnes, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Robinson, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England

Kay, AB
论文数: 0 引用数: 0
h-index: 0
机构: Univ London Imperial Coll Sci & Technol, Natl Heart & Lung Inst, Dept Allergy & Clin Immunol, London SW3 6LY, England
[6]
Genetic variants of the T-cell immunoglobulin mucin 1 but not the T-cell immunoglobulin mucin 3 gene are associated with asthma in an African American population
[J].
Gao, PS
;
Mathias, RA
;
Plunkett, B
;
Togias, A
;
Barnes, KC
;
Beaty, TH
;
Huang, SK
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2005, 115 (05)
:982-988

Gao, PS
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA

Mathias, RA
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA

Plunkett, B
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA

Togias, A
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA

Barnes, KC
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA

Beaty, TH
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA

Huang, SK
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Johns Hopkins Asthma & Allergy Ctr, Baltimore, MD 21224 USA
[7]
Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain -: IL-2-inducible T-cell kinase gene cluster in chromosome 5q33
[J].
Graves, PE
;
Siroux, V
;
Guerra, S
;
Klimecki, WT
;
Martinez, FD
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2005, 116 (03)
:650-656

Graves, PE
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA

Siroux, V
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA

Guerra, S
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA

Klimecki, WT
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA

Martinez, FD
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA Univ Arizona, Arizona Resp Ctr, Tucson, AZ 85724 USA
[8]
Association studies for asthma and atopic diseases: a comprehensive review of the literature
[J].
Hoffjan, S
;
Nicolae, D
;
Ober, C
.
RESPIRATORY RESEARCH,
2003, 4 (14)

Hoffjan, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

Nicolae, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

Ober, C
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[9]
The druggable genome
[J].
Hopkins, AL
;
Groom, CR
.
NATURE REVIEWS DRUG DISCOVERY,
2002, 1 (09)
:727-730

Hopkins, AL
论文数: 0 引用数: 0
h-index: 0
机构:
Pfizer Global Res & Dev, Mol Informat Struct & Design Dept, Sandwich CT13 9NJ, Kent, England Pfizer Global Res & Dev, Mol Informat Struct & Design Dept, Sandwich CT13 9NJ, Kent, England

Groom, CR
论文数: 0 引用数: 0
h-index: 0
机构:
Pfizer Global Res & Dev, Mol Informat Struct & Design Dept, Sandwich CT13 9NJ, Kent, England Pfizer Global Res & Dev, Mol Informat Struct & Design Dept, Sandwich CT13 9NJ, Kent, England
[10]
Skin barrier function and allergic risk
[J].
Hudson, TJ
.
NATURE GENETICS,
2006, 38 (04)
:399-400

Hudson, TJ
论文数: 0 引用数: 0
h-index: 0
机构:
AllerGen Network, Montreal, PQ, Canada AllerGen Network, Montreal, PQ, Canada