Pharmacogenetics and interstitial lung disease

Current Opinion in Pulmonary Medicine

Volumn 22, Issue 5, 2016, Pages 456-465

  Oldham, Justin M ^a   Noth, Imre ^b   Martinez, Fernando J ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

connective tissue disease; idiopathic pulmonary fibrosis; interstitial lung disease; pharmacogenetics

Indexed keywords

ACETYLCYSTEINE; AZATHIOPRINE; BIOLOGICAL MARKER; CORTICOSTEROID; MYCOPHENOLATE MOFETIL; NINTEDANIB; PIRFENIDONE; TACROLIMUS; GENETIC MARKER; SIGNAL PEPTIDE; TOLLIP PROTEIN, HUMAN;

CONNECTIVE TISSUE DISEASE; DISEASE ASSOCIATION; FIBROSING ALVEOLITIS; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; INTERSTITIAL LUNG DISEASE; PERSONALIZED MEDICINE; PHARMACOGENETICS; PHASE 3 CLINICAL TRIAL (TOPIC); REVIEW; SIGNAL TRANSDUCTION; TREATMENT RESPONSE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; IDIOPATHIC PULMONARY FIBROSIS; LUNG DISEASES, INTERSTITIAL;

GENE-ENVIRONMENT INTERACTION; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IDIOPATHIC PULMONARY FIBROSIS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LUNG DISEASES, INTERSTITIAL; PHARMACOGENETICS; POLYMORPHISM, GENETIC;

EID: 84973160652     PISSN: 10705287     EISSN: 15316971     Source Type: Journal    
DOI: 10.1097/MCP.0000000000000289     Document Type: Review

References (107)

1. Nebert DW. Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist Clin Genet 1999; 56:247-258.
2. Kalow W. Pharmacogenetics: heredity and the response to drugs. Philadelphia, USA: W.B. Saunders; 1962.
3. Lindpaintner K. Pharmacogenetics and the future of medical practice: conceptual considerations. Pharmacogenomics J 2001; 1:23-26.
4. Martis S, Mei H, Vijzelaar R, et al. Multiethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. Pharmacogenomics J 2013; 13:558-566.
5. Winkelmann BR, Nauck M, Klein B, et al. Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with increased plasma angiotensin-converting enzyme activity but not with increased risk for myocardial infarction and coronary artery disease. Ann Intern Med 1996; 125:19-25.
6. Tantisira KG, Lazarus R, Litonjua AA, et al. Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma. Pharmacogenet Genomics 2008; 18:733-737.
7. Choudhry S, Ung N, Avila PC, et al. Pharmacogenetic differences in response to albuterol between Puerto Ricans and Mexicans with asthma. Am J Respir Crit Care Med 2005; 171:563-570.
8. Israel E, Drazen JM, Liggett SB, et al. The effect of polymorphisms of the beta(2)-adrenergic receptor on the response to regular use of albuterol in asthma. Am J Respir Crit Care Med 2000; 162:75-80.
9. Martinez FD, Graves PE, Baldini M, et al. Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest 1997; 100:3184-3188.
10. Wechsler ME, Lehman E, Lazarus SC, et al. b-adrenergic receptor polymorphisms and response to salmeterol. Am J Respir Crit Care Med 2006; 173:519-526.
11. Hizawa N, Makita H, Nasuhara Y, et al. b2-adrenergic receptor genetic polymorphisms and short-term bronchodilator responses in patients with COPD. Chest 2007; 132:1485-1492.
12. Umeda N, Yoshikawa T, Kanazawa H, et al. Association of b2-adrenoreceptor genotypes with bronchodilatory effect of tiotropium in COPD. Respirology 2008; 13:346-352.
13. Kim WJ, Hersh CP, DeMeo DL, et al. Genetic association analysis of COPD candidate genes with bronchodilator responsiveness. Respir Med 2009; 103:552-557.
14. King TE Jr. Clinical advances in the diagnosis and therapy of the interstitial lung diseases. Am J Respir Crit Care Med 2005; 172:268-279.
15. Bjoraker JA, Ryu JH, Edwin MK, et al. Prognostic significance of histopathologic subsets in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 1998; 157:199-203.
16. Flaherty KR, Toews GB, Travis WD, et al. Clinical significance of histological classification of idiopathic interstitial pneumonia. Eur Respir J 2002; 19:275-283.
17. Strand MJ, Sprunger D, Cosgrove GP, et al. Pulmonary function and survival in idiopathic vs secondary usual interstitial pneumonia. Chest 2014; 146:775-785.
18. Berezne A, Ranque B, Valeyre D, et al. Therapeutic strategy combining intravenous cyclophosphamide followed by oral azathioprine to treat worsening interstitial lung disease associated with systemic sclerosis: a retrospective multicenter open-label study. J Rheumatol 2008; 35:1064-1072.
19. Raghu G, Anstrom KJ, King TE Jr, et al. Prednisone, azathioprine, and Nacetylcysteine for pulmonary fibrosis. N Engl J Med 2012; 366:1968-1977.
20. Coultas DB, Hughes MP. Accuracy of mortality data for interstitial lung diseases in New Mexico, USA. Thorax 1996; 51:717-720.
21. EvansWE, Relling MV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999; 286:487-491.
22. Rhen T, Cidlowski JA. Antiinflammatory action of glucocorticoids-new mechanisms for old drugs. N Engl J Med 2005; 353:1711-1723.
23. Vij R, Strek ME. Diagnosis and treatment of connective tissue diseaseassociated interstitial lung disease. Chest 2013; 143:814-824.
24. Krupoves A, Mack D, Deslandres C, et al. Variation in the glucocorticoid receptor gene (NR3C1) may be associated with corticosteroid dependency and resistance in children with Crohn's disease. Pharmacogenet Genomics 2011; 21:454-460.
25. Baker AC, Green TL, Chew VW, et al. Enhanced steroid response of a human glucocorticoid receptor splice variant. Shock 2012; 38:11-17.
26. Tantisira KG, Lake S, Silverman ES, et al. Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Hum Mol Genet 2004; 13:1353-1359.
27. Hawkins GA, Lazarus R, Smith RS, et al. The glucocorticoid receptor heterocomplex gene STIP1 is associated with improved lung function in asthmatic subjects treated with inhaled corticosteroids. J Allergy Clin Immunol 2009; 123:1376-1383.
28. Tantisira KG, Hwang ES, Raby BA, et al. TBX21: a functional variant predicts improvement in asthma with the use of inhaled corticosteroids. Proc Natl Acad Sci USA 2004; 101:18099-18104.
29. Rojas-Serrano J, Gonzalez-Velasquez E, Mejia M, et al. Interstitial lung disease related to rheumatoid arthritis: evolution after treatment. Reumatol Clin 2012; 8:68-71.
30. Deheinzelin D, Capelozzi VL, Kairalla RA, et al. Interstitial lung disease in primary Sjogren's syndrome. Clinical-pathological evaluation and response to treatment. Am J Respir Crit Care Med 1996; 154:794-799.
31. Dheda K, Lalloo UG, Cassim B, et al. Experience with azathioprine in systemic sclerosis associated with interstitial lung disease. Clin Rheumatol 2004; 23:306-309.
32. Paone C, Chiarolanza I, Cuomo G, et al. Twelve-month azathioprine as maintenance therapy in early diffuse systemic sclerosis patients treated for 1-year with low dose cyclophosphamide pulse therapy. Clin Exp Rheumatol 2007; 25:613-616.
33. Sauty A, Rochat T, Schoch OD, et al. Pulmonary fibrosis with predominant CD8 lymphocytic alveolitis and anti-Jo-1 antibodies. Eur Respir J 1997; 10:2907-2912.
34. BunchTW, Worthington JW, Combs JJ, et al. Azathioprine with prednisone for polymyositis. A controlled, clinical trial. Ann Intern Med 1980; 92:365-369.
35. Bunch TW. Prednisone and azathioprine for polymyositis: long-term followup. Arthritis Rheum 1981; 24:45-48.
36. Ujiie S, Sasaki T, Mizugaki M, et al. Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT-2-24). Pharmacogenet Genomics 2008; 18:887-893.
37. Liu YP, Xu HQ, Li M, et al. Association between thiopurine s-methyltransferase polymorphisms and azathioprine-induced adverse drug reactions in patients with autoimmune diseases: a meta-analysis. PLoS One 2015; 10:e0144234.
38. Gleeson D, Heneghan MA. British Society of G. British Society of Gastroenterology (BSG) guidelines for management of autoimmune hepatitis. Gut 2011; 60:1611-1629.
39. Manns MP, Czaja AJ, Gorham JD, et al. Diagnosis and management of autoimmune hepatitis. Hepatology 2010; 51:2193-2213.
40. Meggitt SJ, Anstey AV, Mohd Mustapa MF, et al. British Association of Dermatologists' guidelines for the safe and effective prescribing of azathioprine. Br J Dermatol 2011; 165:711-734.
41. Relling MV, Gardner EE, Sandborn WJ, et al. Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther 2011; 89: 387-391.
42. Smith MA, Marinaki AM, Arenas M, et al. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. Aliment Pharmacol Ther 2009; 30:375-384.
43. Fischer A, Brown KK, Du Bois RM, et al. Mycophenolate mofetil improves lung function in connective tissue disease-associated interstitial lung disease. J Rheumatol 2013; 40:640-646.
44. Swigris JJ, Olson AL, Fischer A, et al. Mycophenolate mofetil is safe, well tolerated, and preserves lung function in patients with connective tissue disease-related interstitial lung disease. Chest 2006; 130:30-36.
45. Tzouvelekis A, Galanopoulos N, Bouros E, et al. Effect and safety of mycophenolate mofetil or sodium in systemic sclerosis-associated interstitial lung disease: a meta-analysis. Pulm Med 2012; 2012:143637.
46. Winnicki W, Weigel G, Sunder-Plassmann G, et al. An inosine 5'-monophosphate dehydrogenase 2 single-nucleotide polymorphism impairs the effect of mycophenolic acid. Pharmacogenomics J 2010; 10:70-76.
47. Kuypers DR, Naesens M, Vermeire S, et al. The impact of uridine diphosphate-glucuronosyltransferase 1A9 (UGT1A9) gene promoter region single-nucleotide polymorphisms T-275A and C-2152T on early mycophenolic acid dose-interval exposure in de novo renal allograft recipients. Clin Pharmacol Ther 2005; 78:351-361.
48. Kurita T, Yasuda S, Oba K, et al. The efficacy of tacrolimus in patients with interstitial lung diseases complicated with polymyositis or dermatomyositis. Rheumatology (Oxford) 2015; 54:39-44.
49. Wilkes MR, Sereika SM, Fertig N, et al. Treatment of antisynthetase-associated interstitial lung disease with tacrolimus. Arthritis Rheum 2005; 52:2439-2446.
50. Witt LJ, Demchuck C, Curran JJ, et al. Benefit of adjunctive tacrolimus in connective tissue disease-interstitial lung disease. Pulm Pharmacol Ther 2016; 36:46-52.
51. Tavira B, Coto E, Diaz-Corte C, et al. Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes. Clin Chem Lab Med 2011; 49:825-833.
52. Lopez-Montenegro Soria MA, Kanter Berga J, Beltran Catalan S, et al. Genetic polymorphisms and individualized tacrolimus dosing. Transplant Proc 2010; 42:3031-3033.
53. Richeldi L, du Bois RM, Raghu G, et al. Efficacy and safety of nintedanib in idiopathic pulmonary fibrosis. N Engl J Med 2014; 370:2071-2082.
54. King TE Jr, Bradford WZ, Castro-Bernardini S, et al. A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis. N Engl J Med 2014; 370:2083-2092.
55. Noble PW, Albera C, Bradford WZ, et al. Pirfenidone in patients with idiopathic pulmonary fibrosis (CAPACITY): two randomised trials. Lancet 2011; 377:1760-1769.
56. Conte E, Gili E, Fagone E, et al. Effect of pirfenidone on proliferation, TGFbeta-induced myofibroblast differentiation and fibrogenic activity of primary human lung fibroblasts. Eur J Pharm Sci 2014; 58:13-19.
57. Nakayama S,Mukae H, Sakamoto N, et al. Pirfenidone inhibits the expression of HSP47 in TGF-beta1-stimulated human lung fibroblasts. Life Sci 2008; 82:210-217.
58. Kruit A, Grutters JC, Ruven HJ, et al. Transforming growth factor-beta gene polymorphisms in sarcoidosis patients with and without fibrosis. Chest 2006; 129:1584-1591.
59. Armendariz-Borunda J, Rincon AR, Munoz-Valle JF, et al. Fibrogenic polymorphisms (TGF-beta, PAI-1, AT) in Mexican patients with established liver fibrosis. Potential correlation with pirfenidone treatment. J Investig Med 2008; 56:944-953.
60. Wollin L, Wex E, Pautsch A, et al. Mode of action of nintedanib in the treatment of idiopathic pulmonary fibrosis. Eur Respir J 2015; 45:1434-1445.
61. Heinzle C, Gsur A, Hunjadi M, et al. Differential effects of polymorphic alleles of FGF receptor 4 on colon cancer growth and metastasis. Cancer Res 2012; 72:5767-5777.
62. Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447:1087-1093.
63. Kim MJ, Kim SK, Park HJ, et al. PDGFRA promoter polymorphisms are associated with the risk of papillary thyroid cancer. Mol Med Rep 2012; 5:1267-1270.
64. Low SK, Takahashi A, Mushiroda T, et al. Genome-wide association study: a useful tool to identify common genetic variants associated with drug toxicity and efficacy in cancer pharmacogenomics. Clin Cancer Res 2014; 20:2541-2552.
65. Nogee LM, Dunbar AE 3rd, Wert SE, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001; 344:573-579.
66. Thomas AQ, Lane K, Phillips J 3rd, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002; 165:1322-1328.
67. van Moorsel CH, van Oosterhout MF, Barlo NP, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med 2010; 182:1419-1425.
68. Ono S, Tanaka T, Ishida M, et al. Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred. Eur Respir J 2011; 38:861-869.
69. Wang Y, Kuan PJ, Xing C, et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet 2009; 84:52-59.
70. ArmaniosMY, Chen JJ, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007; 356:1317-1326.
71. Tsakiri KD, Cronkhite JT, Kuan PJ, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007; 104:7552-7557.
72. Cogan JD, Kropski JA, Zhao M, et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 2015; 191:646-655.
73. Stuart BD, Choi J, Zaidi S, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 2015; 47:512-517.
74. Noth I, Zhang Y, Ma S-F, et al. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. The Lancet 2013; 1:309-317.
75. Seibold MA, Wise AL, Speer MC, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 2011; 364:1503-1512.
76. 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.
77. Mushiroda T, Wattanapokayakit S, Takahashi A, et al. A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. J Med Genet 2008; 45:654-656.
78. Ahn MH, Park BL, Lee SH, et al. A promoter SNP rs4073TA in the common allele of the interleukin 8 gene is associated with the development of idiopathic pulmonary fibrosis via the IL-8 protein enhancing mode. Respir Res 2011; 12:73.
79. Barlo NP, van Moorsel CH, Korthagen NM, et al. Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1b in idiopathic pulmonary fibrosis. Clin Exp Immunol 2011; 166:346-351.
80. Whyte M, Hubbard R, Meliconi R, et al. Increased risk of fibrosing alveolitis associated with interleukin-1 receptor antagonist and tumor necrosis factoralpha gene polymorphisms. Am J Respir Crit Care Med 2000; 162:755-758.
81. Xue J, Gochuico BR, Alawad AS, et al. The HLA class II Allele DRB1-1501 is over-represented in patients with idiopathic pulmonary fibrosis. PLoS One 2011; 6:e14715.
82. Aquino-Galvez A, Gonzalez-Avila G, Perez-Rodriguez M, et al. Analysis of heat shock protein 70 gene polymorphisms Mexican patients with idiopathic pulmonary fibrosis. BMC Pulm Med 2015; 15:129.
83. Korthagen NM, van Moorsel CH, Barlo NP, et al. Association between variations in cell cycle genes and idiopathic pulmonary fibrosis. PLoS One 2012; 7:e30442.
84. O'Dwyer DN, Armstrong ME, Trujillo G, et al. The Toll-like receptor 3 L412F polymorphism and disease progression in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2013; 188:1442-1450.
85. Xaubet A,Marin-Arguedas A, Lario S, et al. Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2003; 168:431-435.
86. Zhang G, Ghosh S. Negative regulation of toll-like receptor-mediated signaling by Tollip. J Biol Chem 2002; 277:7059-7065.
87. Pruitt KD, Brown GR, Hiatt SM, et al. RefSeq: an update on mammalian reference sequences. Nucleic Acids Res 2014; 42:D756-D763.
88. Shah JA, Vary JC, Chau TT, et al. Human TOLLIP regulates TLR2 and TLR4 signaling and its polymorphisms are associated with susceptibility to tuberculosis. J Immunol 2012; 189:1737-1746.
89. Saito T, Yamamoto T, Kazawa T, et al. Expression of toll-like receptor 2 and 4 in lipopolysaccharide-induced lung injury in mouse. Cell Tissue Res 2005; 321:75-88.
90. Janardhan KS, McIsaac M, Fowlie J, et al. Toll like receptor-4 expression in lipopolysaccharide induced lung inflammation. Histol Histopathol 2006; 21:687-696.
91. Roy MG, Livraghi-Butrico A, Fletcher AA, et al. Muc5b is required for airway defence. Nature 2014; 505:412-416.
92. Molyneaux PL, Cox MJ, Willis-Owen SA, et al. The role of bacteria in the pathogenesis and progression of idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2014; 190:906-913.
93. Peljto AL, Zhang Y, Fingerlin TE, et al. Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. JAMA 2013; 309:2232-2239.
94. Ley B, Collard HR, King TE Jr. Clinical course and prediction of survival in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2011; 183:431-440.
95. Selman M, Carrillo G, Estrada A, et al. Accelerated variant of idiopathic pulmonary fibrosis: clinical behavior and gene expression pattern. PLoS One 2007; 2:e482.
96. Nathan SD, Shlobin OA, Weir N, et al. Long-term course and prognosis of idiopathic pulmonary fibrosis in the new millennium. Chest 2011; 140:221-229.
97. Stahl EA, Raychaudhuri S, Remmers EF, et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 2010; 42:508-514.
98. Radstake TR, Gorlova O, Rueda B, et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 2010; 42:426-429.
99. Miller FW, Cooper RG, Vencovsky J, et al. Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. Arthritis Rheum 2013; 65:3239-3247.
100. Miller FW, Chen W, O'Hanlon TP, et al. Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. Genes Immun 2015; 16:470-480.
101. Lessard CJ, Li H, Adrianto I, et al. Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjogren's syndrome. Nat Genet 2013; 45:1284-1292.
102. Noth I, Anstrom KJ, Calvert SB, et al. A placebo-controlled randomized trial of warfarin in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2012; 186:88-95.
103. King TE Jr, Albera C, Bradford WZ, et al. Effect of interferon gamma-1b on survival in patients with idiopathic pulmonary fibrosis (INSPIRE): a multicentre, randomised, placebo-controlled trial. Lancet 2009; 374:222-228.
104. Oldham JM, Ma SF, Martinez FJ, et al. TOLLIP, MUC5B, and the response to N-acetylcysteine among individuals with idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 2015; 192:1475-1482.
105. Idiopathic Pulmonary Fibrosis Clinical Research Network. Randomized trial of acetylcysteine in idiopathic pulmonary fibrosis. N Engl J Med 2014; 370:2093-2101.
106. Israel E, Chinchilli VM, Ford JG, et al. Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial. Lancet 2004; 364:1505-1512.
107. Wechsler ME, Kunselman SJ, Chinchilli VM, et al. Effect of b2-adrenergic receptor polymorphism on response to longacting beta2 agonist in asthma (LARGE trial): a genotype-stratified, randomised, placebo-controlled, crossover trial. Lancet 2009; 374:1754-1764.