Candidate genes for COPD: Current evidence and research

International Journal of COPD

Volumn 10, Issue 1, 2015, Pages 2249-2255

  Kim, Woo Jin ^a   Lee, Sang Do ^b  

^a Kangwon National University   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

Chronic obstructive pulmonary disease; Genetics; Genome wide association study

Indexed keywords

ADVANCED GLYCATION END PRODUCT RECEPTOR; BETA CATENIN; CYTOCHROME P450 2A6; HYPOXIA INDUCIBLE FACTOR PROLINE DIOXYGENASE; MACROPHAGE ELASTASE; NOTCH4 RECEPTOR; PROTEIN KINASE B; AGER PROTEIN, HUMAN; CARRIER PROTEIN; FAM13A PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; HHIP PROTEIN, HUMAN; IRON REGULATORY PROTEIN 2; MEMBRANE PROTEIN; NICOTINIC RECEPTOR; NICOTINIC RECEPTOR SUBUNIT ALPHA3;

ADAM19 GENE; AGER GENE; APOPTOSIS; BICD1 GENE; CASE CONTROL STUDY; CELL GROWTH; CHRNA3 GENE; CHRNA5 GENE; CHROMOSOME 15Q; CHROMOSOME 19; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME 6P; CHRONIC BRONCHITIS; CHRONIC OBSTRUCTIVE LUNG DISEASE; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CYP2A6 GENE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; EGLN GENE; EMPHYSEMA; EXTRACELLULAR MATRIX; FAM13A GENE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GSTDS GENE; HAPLOINSUFFICIENCY; HHIP GENE; HUMAN; INTS12 GENE; IREB2 GENE; IRON METABOLISM; LUNG CANCER; LYMPHOCYTE ACTIVATION; MIA GENE; MILK PRODUCTION; MMP12 GENE; MORPHOGENESIS; NONHUMAN; NOTCH4 GENE; PATHOGENESIS; PHENOTYPE; PPT2 GENE; PROMOTER REGION; PROTEIN PHOSPHORYLATION; PULMONARY ARTERY; PULMONARY HYPERTENSION; QUANTITATIVE TRAIT LOCUS; RAB4B GENE; REVIEW; RIN3 GENE; RISK FACTOR; SERPINE2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SPIROMETRY; TGFB2 GENE; TNXB GENE; TOBACCO DEPENDENCE; TRANSCRIPTION REGULATION; VALIDATION STUDY; WNT SIGNALING PATHWAY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY;

ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; CARRIER PROTEINS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GTPASE-ACTIVATING PROTEINS; HUMANS; IRON REGULATORY PROTEIN 2; MEMBRANE GLYCOPROTEINS; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, NICOTINIC;

EID: 84944882763     PISSN: 11769106     EISSN: 11782005     Source Type: Journal    
DOI: 10.2147/COPD.S80227     Document Type: Review

References (77)

1. Vestbo J, Hurd SS, Agustí AG, et al. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2013;187:347-365.
2. Prince MJ, Wu F, Guo Y, et al. The burden of disease in older people and implications for health policy and practice. Lancet. 2015;385:549-562.
3. Postma DS, Bush A, van den Berge M. Risk factors and early origins of chronic obstructive pulmonary disease. Lancet. 2015;385:899-909.
4. Cosio MG, Saetta M, Agusti A. Immunologic aspects of chronic obstructive pulmonary disease. N Engl J Med. 2009;360:2445-2454.
5. Tuder R, Petrache I. Pathogenesis of chronic obstructive pulmonary disease. J Clin Invest. 2012;122:2749-2755.
6. Kirkham PA, Barnes PJ. Oxidative stress in COPD. Chest. 2013;144:266-273.
7. Bagdonas E, Raudoniute J, Bruzauskaite I, et al. Novel aspects of pathogenesis and regeneration mechanisms in COPD. Int J Chron Obstruct Pulmon Dis. 2015;10:995-1013.
8. Silverman EK, Sandhaus RA. Alpha1-antitrypsin deficiency. N Engl J Med. 2009;360:2749-2757.
9. Ober C, Butte AJ, Elias JA, et al. Getting from genes to function in lung disease. Am J Respir Crit Care Med. 2010;182:732-737.
10. Pillai SG, Ge D, Zhu G, et al. A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet. 2009;5:e1000421.
11. Cho MH, Castaldi PJ, Wan ES, et al. A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. Hum Mol Genet. 2012;21:947-957.
12. Wilk JB, Shrine NR, Loehr LR, et al. Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Am J Respir Crit Care Med. 2012;186:622-632.
13. Hardin M, Zielinski J, Wan ES, et al. CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland. Am J Respir Cell Mol Biol. 2012;47:203-208.
14. Kim WJ, Oh YM, Kim TH, et al. CHRNA3 variant for lung cancer is associated with chronic obstructive pulmonary disease in Korea. Respiration. 2013;86:117-122.
15. Yang L, Qiu F, Lu X, et al. Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. PLoS One. 2012;7:e46071.
16. Pillai SG, Kong X, Edwards LD, et al. Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2010;182:1498-1505.
17. Castaldi PJ, Cho MH, San Jose Estepar R, et al. Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns. Am J Respir Crit Care Med. 2014;190:399-409.
18. Siedlinski M, Tingley D, Lipman PJ, et al. Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility. Hum Genet. 2013;132:431-441.
19. Castaldi PJ, Cho MH, Zhou X, et al. Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci. Hum Mol Genet. 2015;24:1200-1210.
20. DeMeo DL, Mariani T, Bhattacharya S, et al. Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene. Am J Hum Genet. 2009;85:493-502.
21. Zumbrennen-Bullough KB, Becker L, Garrett L, et al. Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments. PLoS One. 2014;9:e98072.
22. Lee JH, Cho MH, Hersh CP, et al. IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2015;52:365-376.
23. Cho MH, McDonald ML, Zhou X, et al. Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. Lancet Respir Med. 2014;2:214-225.
24. Van Durme YM, Eijgelsheim M, Joos GF, et al. Hedgehog-interacting protein is a COPD susceptibility gene: the Rotterdam Study. Eur Respir J. 2010;36:89-95.
25. Kim WJ, Oh YM, Lee JH, et al. Genetic variants in HHIP are associated with FEV1 in subjects with chronic obstructive pulmonary disease. Respirology. 2013;18:1202-1209.
26. Xie J, Wu H, Xu Y, et al. Gene susceptibility identification in a longitudinal study confirms new loci in the development of chronic obstructive pulmonary disease and influences lung function decline. Respir Res. 2015;16:49.
27. Wang B, Zhou H, Yang J, et al. Association of HHIP polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population. Gene. 2013;531:101-105.
28. Hancock DB, Eijgelsheim M, Wilk JB, et al. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat Genet. 2010;42:45-52.
29. Wilk JB, Chen TH, Gottlieb DJ, et al. A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet. 2009;5:e1000429.
30. Repapi E, Sayers I, Wain LV, et al. Genome-wide association study identifies five loci associated with lung function. Nat Genet. 2010;42:36-44.
31. Cho MH, Castaldi PJ, Hersh CP, et al. A genome-wide association study of emphysema and airway quantitative imaging phenotypes. Am J Respir Crit Care Med. 2015;192:559-569.
32. Castaldi PJ, Dy J, Ross J, et al. Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema. Thorax. 2014;69:416-423.
33. van der Valk RJP, Kreiner-Møller E, Kooijman MN, et al. A novel common variant in DCST2 is associated with length in early life and height in adulthood. Hum Mol Genet. 2015;24:1155-1168.
34. Kerkhof M, Boezen HM, Granell R, et al. Transient early wheeze and lung function in early childhood associated with chronic obstructive pulmonary disease genes. J Allergy Clin Immunol. 2014;133:68-76.e64.
35. Chuang PT, Kawcak T, McMahon AP. Feedback control of mammalian Hedgehog signaling by the Hedgehog-binding protein, Hip1, modulates Fgf signaling during branching morphogenesis of the lung. Genes Dev. 2003;17:342-347.
36. Lamontagne M, Couture C, Postma DS, et al. Refining susceptibility loci of chronic obstructive pulmonary disease with lung EQTLS. PLoS One. 2013;8:e70220.
37. Zhou X, Baron RM, Hardin M, et al. Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. Hum Mol Genet. 2012;21:1325-1335.
38. Zhou X, Qiu W, Sathirapongsasuti JF, et al. Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells. Genomics. 2013;101:263-272.
39. Lao T, Glass K, Qiu W, et al. Haploinsufficiency of Hedgehog interacting protein causes increased emphysema induced by cigarette smoke through network rewiring. Genome Med. 2015;7:12.
40. Young RP, Whittington CF, Hopkins RJ, et al. Chromosome 4q31 locus in COPD is also associated with lung cancer. Eur Respir J. 2010;36:1375-1382.
41. Lemjabbar-Alaoui H, Dasari V, Sidhu SS, et al. Wnt and Hedgehog are critical mediators of cigarette smoke-induced lung cancer. PLoS One. 2006;1:e93.
42. Cho MH, Boutaoui N, Klanderman BJ, et al. Variants in FAM13A are associated with chronic obstructive pulmonary disease. Nat Genet. 2010;42:200-202.
43. Kim WJ, Lim MN, Hong Y, et al. Association of lung function genes with chronic obstructive pulmonary disease. Lung. 2014;192:473-480.
44. Guo Y, Lin H, Gao K, et al. Genetic analysis of IREB2, FAM13A and XRCC5 variants in Chinese Han patients with chronic obstructive pulmonary disease. Biochem Biophys Res Commun. 2011;415:284-287.
45. Li X, Hawkins GA, Ampleford EJ, et al. Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients. J Allergy Clin Immunol. 2013;132:313-320.e315.
46. Lee JH, Cho MH, Hersh CP, et al. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. Respir Res. 2014;15:113.
47. Fingerlin TE, Murphy E, Zhang W, et al. Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet. 2013;45:613-620.
48. Cohen M, Reichenstein M, Everts-van der Wind A, et al. Cloning and characterization of FAM13A1 - a gene near a milk protein QTL on BTA6: evidence for population-wide linkage disequilibrium in Israeli Holsteins. Genomics. 2004;84:374-383.
49. Corvol H, Hodges CA, Drumm ML, et al. Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases? J Med Genet. 2014;51:646-649.
50. Jin Z, Chung JW, Mei W, et al. Regulation of nuclear-cytoplasmic shuttling and function of Family with sequence similarity 13, member A (Fam13a), by B56-containing PP2As and Akt. Mol Biol Cell. 2015;26:1160-1173.
51. Bozinovski S, Vlahos R, Hansen M, et al. Akt in the pathogenesis of COPD. Int J Chron Obstruct Pulmon Dis. 2006;1:31-38.
52. Kim WJ, Lee MK, Shin C, et al. Genome-wide association studies identify locus on 6p21 influencing lung function in the Korean population. Respirology. 2014;19:360-368.
53. Soler Artigas M, Wain LV, Repapi E, et al. Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function. Am J Respir Crit Care Med. 2011;184:786-795.
54. Castaldi PJ, Cho MH, Litonjua AA, et al. The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility. Am J Respir Cell Mol Biol. 2011;45:1147-1153.
55. Li Y, Yang C, Ma G, et al. Association of polymorphisms of the receptor for advanced glycation end products gene with COPD in the Chinese population. DNA Cell Biol. 2014;33:251-258.
56. Manichaikul A, Hoffman EA, Smolonska J, et al. Genome-wide study of percent emphysema on computed tomography in the general population. The multi-ethnic study of atherosclerosis lung/SNP health association resource study. Am J Respir Crit Care Med. 2014;189:408-418.
57. Sorci G, Riuzzi F, Giambanco I, et al. RAGE in tissue homeostasis, repair and regeneration. Biochim Biophys Acta. 2013;1833:101-109.
58. Wu L, Ma L, Nicholson LFB, et al. Advanced glycation end products and its receptor (RAGE) are increased in patients with COPD. Respir Med. 2011;105:329-336.
59. Robinson AB, Johnson KD, Bennion BG, et al. RAGE signaling by alveolar macrophages influences tobacco smoke-induced inflammation. Am J Physiol Lung Cell Mol Physiol. 2012;302:L1192-L1199.
60. Fineschi S, De Cunto G, Facchinetti F, et al. Receptor for advanced glycation end products contributes to postnatal pulmonary development and adult lung maintenance program in mice. Am J Respir Cell Mol Biol. 2013;48:164-171.
61. Stogsdill MP, Stogsdill JA, Bodine BG, et al. Conditional overexpression of receptors for advanced glycation end-products in the adult murine lung causes airspace enlargement and induces inflammation. Am J Respir Cell Mol Biol. 2013;49:128-134.
62. Beucher J, Boëlle P-Y, Busson P-F, et al. AGER-429T/C is associated with an increased lung disease severity in cystic fibrosis. PLoS One. 2012;7:e41913.
63. Gopal P, Gosker HR, Theije CC, et al. Effect of chronic hypoxia on RAGE and its soluble forms in lungs and plasma of mice. Biochim Biophys Acta. 2015;1852:992-1000.
64. Miniati M, Monti S, Basta G, et al. Soluble receptor for advanced glycation end products in COPD: relationship with emphysema and chronic cor pulmonale: a case-control study. Respir Res. 2011;12:37.
65. Carolan B, Hughes G, Morrow J, et al. The association of plasma biomarkers with computed tomography-assessed emphysema phenotypes. Respir Res. 2014;15:127.
66. Iwamoto H, Gao J, Pulkkinen V, et al. Soluble receptor for advanced glycation end-products and progression of airway disease. BMC Pulm Med. 2014;14:68.
67. Cheng DT, Kim DK, Cockayne DA, et al. Systemic soluble receptor for advanced glycation endproducts is a biomarker of emphysema and associated with AGER genetic variants in patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2013;188:948-957.
68. Gaens KHJ, Ferreira I, van der Kallen CJH, et al. Association of polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating RAGE levels. J Clin Endocrinol Metabol. 2009;94:5174-5180.
69. Ryan DM, Vincent TL, Salit J, et al. Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. PLoS One. 2014;9:e88051.
70. Hunninghake GM, Cho MH, Tesfaigzi Y, et al. MMP12, lung function, and COPD in high-risk populations. N Engl J Med. 2009;361:2599-2608.
71. Artigas MS, Loth DW, Wain LV, et al. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet. 2011;43:1082-1090.
72. DeMeo DL, Mariani TJ, Lange C, et al. The SERPINE2 gene is associated with chronic obstructive pulmonary disease. Am J Hum Genet. 2006;78:253-264.
73. Dijkstra AE, Postma DS, van Ginneken B, et al. Novel genes for airway wall thickness identified with combined genome-wide association and expression analyses. Am J Respir Crit Care Med. 2014;191:547-556.
74. Obeidat M, Miller S, Probert K, et al. GSTCD and INTS12 regulation and expression in the human lung. PLoS One. 2013;8:e74630.
75. Kong X, Cho MH, Anderson W, et al. Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. Am J Respir Crit Care Med. 2011;183:43-49.
76. Hersh CP. Pharmacogenetics of chronic obstructive pulmonary disease: challenges and opportunities. Pharmacogenomics. 2010;11:237-247.
77. Silverman EK, Vestbo J, Agusti A, et al. Opportunities and challenges in the genetics of COPD 2010: an international COPD genetics conference report. COPD. 2011;8:121-135.