Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness

American Journal of Respiratory and Critical Care Medicine

Volumn 180, Issue 10, 2009, Pages 929-935

  Koppelman, Gerard H ^a   Meyers, Deborah A ^b   Howard, Timothy D ^b   Zheng, S Lilly ^b   Hawkins, Greg A ^b   Ampleford, Elizabeth J ^b   Xu, Jianfeng ^b   Koning, Henk ^a,c   Bruinenberg, Marcel ^c   Nolte, Ilja M ^c   Van Diemen, Cleo C ^c   Boezen, H Marike ^c   Timens, Wim ^c   Whittaker, Paul A ^d   Stine, O Colin ^e   Barton, Sheila J ^f   Holloway, John W ^f   Holgate, Stephen T ^f   Graves, Penelope E ^g   Martinez, Fernando D ^g   Van Oosterhout, Antoon J ^c   Bleecker, Eugene R ^b   Postma, Dirkje S ^c   more..

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH   (United States)

^e UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^g UNIVERSITY OF ARIZONA   (United States)

Author keywords

Airway epithelium; Asthma genetics; Bronchial hyperresponsiveness; Cell adhesion; Protocadherin 1

Indexed keywords

CADHERIN; PROTOCADHERIN 1; UNCLASSIFIED DRUG;

ARTICLE; ASTHMA; BRONCHUS HYPERREACTIVITY; CHROMOSOME 5Q; EUROPE; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE REPLICATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; NETHERLANDS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES;

ADULT; ASTHMA; BRONCHIAL HYPERREACTIVITY; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; NETHERLANDS; UNITED STATES;

EID: 72849138467     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200810-1621OC     Document Type: Article

References (37)

1. Masoli M, Fabian D, Holt S; Global Initiative for Asthma (GINA) Program. Global burden of asthma: executive summary of the GINA Dissemination Committee report. Allergy 2004;59:469-478.
2. Koppelman GH. Gene by environment interaction in asthma. Curr Allergy Asthma Rep 2006;6:103-111.
3. Hopp RJ, Bewtra AK, Watt GD, Nair NM, Townley RG. Genetic analysis of allergic disease in twins. J Allergy Clin Immunol 1984;73: 265-270.
4. Rasmussen F, Taylor DR, Flannery EM, Cowan JO, Greene JM, Herbison GP, Sears MR. Outcome in adulthood of asymptomatic airway hyperresponsiveness in childhood: a longitudinal population study. Pediatr Pulmonol 2002;34:164-171. (Pubitemid 34971068)
5. Cook DG, Strachan DP. Parental smoking, bronchial reactivity and peak flow variability in children. Thorax 1998;53:295-301.
6. Postma DS, Bleecker ER, Amelung PJ, Holroyd KJ, Xu J, Panhuysen CI, Meyers DA, Levitt RC. Genetic susceptibility to asthma-bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med 1995;333:894-900.
7. Noguchi E, Shibasaki M, Arinami T, Takeda K, Maki T, Miyamoto T, Kawashima T, Kobayashi K, Hamaguchi H. Evidence for linkage between asthma/atopy in childhood and chromosome 5q31-q33 in a Japanese population. Am J Respir Crit CareMed 1997;156:1390-1393. (Pubitemid 27505499)
8. Yokouchi Y, Nukaga Y, Shibasaki M, Noguchi E, Kimura K, Ito S, Nishihara M, Yamakawa-Kobayashi K, Takeda K, Imoto N, et al. Significant evidence for linkage of mite-sensitive childhood asthma to chromosome 5q31-q33 near the interleukin 12 B locus by a genome-wide search in Japanese families. Genomics 2000;66: 152-160. (Pubitemid 30429750)
9. Walley AJ, Wiltshire S, Ellis CM, Cookson WO. Linkage and allelic association of chromosome 5 cytokine cluster genetic markers with atopy and asthma associated traits. Genomics 2001;72:15-20. (Pubitemid 32225175)
10. Shek LP, Tay AH, Chew FT, Goh DL, Lee BW. Genetic susceptibility to asthma and atopy among Chinese in Singapore-linkage to markers on chromosome 5q31-33. Allergy 2001;56:749-753. (Pubitemid 32681701)
11. Holloway JW, Lonjou C, Beghe B, Peng Q, Gaunt TR, Gomes I, Hall IP, Dewar JC, Wilkinson J, Thomas NS, et al. Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families. Genes Immun 2001;2:20-24. (Pubitemid 33674865)
12. Haagerup A, Bjerke T, Schiotz PO, Binderup HG, Dahl R, Kruse TA. Asthma and atopy - a total genome scan for susceptibility genes. Allergy 2002;57:680-686. (Pubitemid 34836834)
13. Colilla S, Nicolae D, Pluzhnikov A, Blumenthal MN, Beaty TH, Bleecker ER, Lange EM, Rich SS, Meyers DA, Ober C, et al. Evidence for geneenvironment interactions in a linkage study of asthma and smoking exposure. J Allergy Clin Immunol 2003;111:840-846. (Pubitemid 36470258)
14. Meyers DA, Postma DS, Stine OC, Koppelman GH, Ampleford EJ, Jongepier H, Howard TD, Bleecker ER. Genome screen for asthma and bronchial hyperresponsiveness: interactions with passive smoke exposure. J Allergy Clin Immunol 2005;115:1169-1175. (Pubitemid 40824585)
15. Ober C, Hoffjan S. Asthma genetics 2006: the long and winding road to gene discovery. Genes Immun 2006;7:95-100.
16. Panhuysen CI, Bleecker ER, Koeter GH, Meyers DA, Postma DS. Characterization of obstructive airway disease in family members of probands with asthma. An algorithm for the diagnosis of asthma. Am J Respir Crit Care Med 1998;157:1734-1742. (Pubitemid 28311252)
17. Jongepier H, Koppelman GH, Nolte IM, Bruinenberg M, Bleecker ER, Meyers DA, te Meerman GJ, Postma DS. Polymorphisms in SPINK5 are not associated with asthma in a Dutch population. J Allergy Clin Immunol 2005;115:486-492.
18. van Diemen CC, Postma DS, Vonk JM, Bruinenberg M, Schouten JP, Boezen HM. A disintegrin and metalloprotease 33 polymorphisms and lung function decline in the general population. Am J Respir Crit Care Med 2005;172:329-333. (Pubitemid 41026143)
19. Stein RT, Holberg CJ, Morgan WJ, Wright AL, Lombardi E, Taussig L, Martinez FD. Peak flow variability, methacholine responsiveness and atopy as markers for detecting different wheezing phenotypes in childhood. Thorax 1997;52:946-952. (Pubitemid 27514488)
20. Basehore MJ, Howard TD, Lange LA, Moore WC, Hawkins GA, Marshik PL, Harkins MS, Meyers DA, Bleecker ER. A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects. J Allergy Clin Immunol 2004;114:80-87.
21. Xu J, Meyers DA, Ober C, Blumenthal MN, Mellen B, Barnes KC, King RA, Lester LA, Howard TD, Solway J, et al. Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three US populations: collaborative study on the genetics of asthma. Am J Hum Genet 2001;68:1437-1446. (Pubitemid 32510619)
22. Van Eerdewegh P, Little RD, Dupuis J, Del Mastro RG, Falls K, Simon J, Torrey D, Pandit S, McKenny J, Braunschweiger K, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426-430. (Pubitemid 34826843)
23. Hawkins GA, Amelung PJ, Smith RS, Jongepier H, Howard TD, Koppelman GH, Meyers DA, Bleecker ER, Postma DS. Identification of polymorphisms in the human glucocorticoid receptor gene (NR3C1) in a multi-racial asthma case and control screening panel. DNA Seq 2004;15:167-173. (Pubitemid 38915469)
24. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001;9:301-306. (Pubitemid 32366699)
25. Zhang Y, Leaves NI, Anderson GG, Ponting CP, Broxholme J, Holt R, Edser P, Bhattacharyya S, Dunham A, Adcock IM, et al. Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. Nat Genet 2003;34: 181-186. (Pubitemid 36666929)
26. Allen M, Heinzmann A, Noguchi E, Abecasis G, Broxholme J, Ponting CP, Bhattacharyya S, Tinsley J, Zhang Y, Holt R, et al. Positional cloning of a novel gene influencing asthma from chromosome 2q14. Nat Genet 2003;35:258-263. (Pubitemid 37363180)
27. Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St JT, Taketani S, Suzuki S. Protocadherins: a large family of cadherin-related molecules in central nervous system. EMBO J 1993;12:2249-2256. (Pubitemid 23194174)
28. Holloway JW, Koppelman GH. Identifying novel genes contributing to asthma pathogenesis. Curr Opin Allergy Clin Immunol 2007;7:69-74.
29. Sekerel BE, Saraclar Y, Kalayci O, Cetinkaya F, Tuncer A, Adalioglu G. Comparison of four different measures of bronchial responsiveness in asthmatic children. Allergy 1997;52:1106-1109. (Pubitemid 27496258)
30. Frank M, Kemler R. Protocadherins. Curr Opin Cell Biol 2002;14:557-562.
31. Redies C, Vanhalst K, Roy F. delta-Protocadherins: unique structures and functions. Cell Mol Life Sci 2005;62:2840-2852. (Pubitemid 41779950)
32. Hormi-Carver KK, Shi W, Liu CW, Berndt N. Protein phosphatase 1alpha is required for murine lung growth and morphogenesis. Dev Dyn 2004;229:791-801. (Pubitemid 38429108)
33. Fitsialos G, Chassot AA, Turchi L, Dayem MA, LeBrigand K, Moreilhon C, Meneguzzi G, Busca R, Mari B, Barbry P, et al. Transcriptional signature of epidermal keratinocytes subjected to in vitro scratch wounding reveals selective roles for ERK1/2, p38, and phosphatidylinositol 3-kinase signaling pathways. J Biol Chem 2007;282:15090-15102. (Pubitemid 47093334)
34. Holgate ST, Davies DE, Powell RM, Howarth PH, Haitchi HM, Holloway JW. Local genetic and environmental factors in asthma disease pathogenesis: chronicity and persistence mechanisms. Eur Respir J 2007;29:793-803.
35. Ohashi Y, Motojima S, Fukuda T, Makino S. Airway hyperresponsiveness, increased intracellular spaces of bronchial epithelium, and increased infiltration of eosinophils and lymphocytes in bronchial mucosa in asthma. Am Rev Respir Dis 1992;145:1469-1476.
36. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007;39:650-654. (Pubitemid 46676107)
37. Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, et al. Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. Nat Genet 2005;37: 1341-1344.