Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma

被引：39

作者：

Palmer, LJ

Cookson, WOCM

机构：

[1] Brigham & Womens Hosp, Channing Lab, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Boston, MA 02115 USA

[3] Case Western Reserve Univ, Cleveland, OH 44106 USA

[4] Wellcome Trust Ctr Human Genet, Oxford, England

来源：

RESPIRATORY RESEARCH | 2001年 / 2卷 / 02期

关键词：

association studies; asthma; genetics; review; SNP;

D O I：

10.1186/rr45

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Asthma is the most common chronic childhood disease in the developed nations, and is a complex disease that has high social and economic costs. Studies of the genetic etiology of asthma offer a way of improving our understanding of its pathogenesis, with the goal of improving preventive strategies, diagnostic tools, and therapies. Considerable effort and expense have been expended in attempts to detect specific polymorphisms in genetic loci contributing to asthma susceptibility. Concomitantly, the technology for detecting single nucleotide polymorphisms (SNPs) has undergone rapid development, extensive catalogues of SNPs across the genome have been constructed, and SNPs have been increasingly used as a method of investigating the genetic etiology of complex human diseases. This paper reviews both current and potential future contributions of SNPs to our understanding of asthma pathophysiology.

引用

页码：102 / 112

页数：11

共 166 条

[1] Extent and distribution of linkage disequilibrium in three genomic regions [J].

Abecasis, GR ;

Noguchi, E ;

Heinzmann, A ;

Traherne, JA ;

Bhattacharyya, S ;

Leaves, NI ;

Anderson, GG ;

Zhang, YM ;

Lench, NJ ;

Carey, A ;

Cardon, LR ;

Moffatt, MF ;

Cookson, WOC .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :191-197

[2]

Amoroso A, 1996, FUND CLIN IMMUNOL, V4, P35

[3]

[Anonymous], LANCET

[4] Evidence of a strong, positive association between atopy and the HLA class II alleles DR4 and DR7 [J].

Aron, Y ;

DesmazesDufeu, N ;

Matran, R ;

Polla, BS ;

Dusser, D ;

Lockhart, A ;

Swierczewski, E .

CLINICAL AND EXPERIMENTAL ALLERGY, 1996, 26 (07) :821-828

[5] INTERNATIONAL STUDY OF ASTHMA AND ALLERGIES IN CHILDHOOD (ISAAC) - RATIONALE AND METHODS [J].

ASHER, MI ;

KEIL, U ;

ANDERSON, HR ;

BEASLEY, R ;

CRANE, J ;

MARTINEZ, F ;

MITCHELL, EA ;

PEARCE, N ;

SIBBALD, B ;

STEWART, AW ;

STRACHAN, D ;

WEILAND, SK ;

WILLIAMS, HC .

EUROPEAN RESPIRATORY JOURNAL, 1995, 8 (03) :483-491

[6] A polymorphism* in the 5′ flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E [J].

Baldini, M ;

Lohman, IC ;

Halonen, M ;

Erickson, RP ;

Holt, PG ;

Martinez, FD .

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 1999, 20 (05) :976-983

[7] Pharmacogenetics and drug metabolism [J].

Ball, S ;

Borman, N .

NATURE BIOTECHNOLOGY, 1997, 15 (10) :925-926

[8] Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: Evidence from Afro-Caribbean and Caucasian populations [J].

Barnes, KC ;

Neely, JD ;

Duffy, DL ;

Freidhoff, LR ;

Breazeale, DR ;

Schou, C ;

Naidu, RP ;

Levett, PN ;

Renault, B ;

Kucherlapati, R ;

Iozzino, S ;

Ehrlich, E ;

Beaty, TH ;

Marsh, DG .

GENOMICS, 1996, 37 (01) :41-50

[9] Worldwide variation in prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and atopic eczema:: ISAAC [J].

Beasley, R ;

Keil, U ;

von Mutius, E ;

Pearce, N ;

Aït-Khaled, N ;

Anabwani, G ;

Anderson, HR ;

Asher, MI ;

Björkstéin, B ;

Burr, ML ;

Clayton, TO ;

Crane, J ;

Ellwood, P ;

Lai, CKW ;

Mallol, J ;

Martinez, FD ;

Mitchell, EA ;

Montefort, S ;

Robertson, CF ;

Shah, JR ;

Sibbald, B ;

Stewart, AW ;

Strachan, DP ;

Weiland, SK ;

Williams, HC .

LANCET, 1998, 351 (9111) :1225-1232

[10] Primary prevention of asthma and other allergic disorders [J].

Becker, A ;

Chan-Yeung, M .

SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE, 1998, 19 (06) :563-568

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