Novel strategy to identify genetic risk factors for COPD severity: A genetic isolate

European Respiratory Journal

Volumn 35, Issue 4, 2010, Pages 768-775

  Van Diemen, C C ^a   Postma, D S ^a   Aulchenko, Y S ^b   Snijders, P J L M ^b   Oostra, B A ^b   Van Duijn, C M ^b   Boezen, H M ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Chronic obstructive pulmonary disease; Genetically isolated population; Lung function; Single nucleotide polymorphism

Indexed keywords

DISINTEGRIN; GELATINASE A; GELATINASE B; GLUTATHIONE TRANSFERASE P1; HEME OXYGENASE 1; INTERSTITIAL COLLAGENASE; MACROPHAGE ELASTASE; SURFACTANT PROTEIN A; TISSUE INHIBITOR OF METALLOPROTEINASE 1;

ADULT; AGED; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; DISEASE SEVERITY; EFFECT SIZE; EXPIRATORY RESERVE VOLUME; FEMALE; FORCED EXPIRATORY VOLUME; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INSPIRATORY CAPACITY; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; MAXIMUM LIKELIHOOD METHOD; PEDIGREE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; VITAL CAPACITY;

ADULT; AGED; AGED, 80 AND OVER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; NETHERLANDS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RESPIRATORY FUNCTION TESTS; RISK FACTORS; SEVERITY OF ILLNESS INDEX;

EID: 77951169145     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00054408     Document Type: Article

References (42)

1. World Health Organization. The World Health Report 2002. www.who.int/whr/2002/en/index.html Date last updated: October 2002. Date last accessed: June 2, 2008.
2. Murtagh E, Heaney L, Gingles J, et al. The prevalence of obstructive lung disease in a general population sample: the NICECOPD study. Eur J Epidemiol 2005; 20: 443-453. (Pubitemid 40898051)
3. Ekberg-Aronsson M, Pehrsson K, Nilsson JA, et al. Mortality in GOLD stages of COPD and its dependence on symptoms of chronic bronchitis. Respir Res 2005; 6: 98. (Pubitemid 41410141)
4. Hospers JJ, Postma DS, Rijcken B, et al. Histamine airway hyper-responsiveness and mortality from chronic obstructive pulmonary disease: a cohort study. Lancet 2000; 356: 1313-1317.
5. Sin DD, Wu L, Man SF. The relationship between reduced lung function and cardiovascular mortality: a population-based study and a systematic review of the literature. Chest 2005; 127: 1952-1959. (Pubitemid 46260082)
6. Pardo LM, Mackay I, Oostra B, et al. The effect of genetic drift in a young genetically isolated population. Ann Hum Genet 2005; 69: 288-295. (Pubitemid 40613730)
7. Aulchenko YS, Heutink P, Mackay I, et al. Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet 2004; 12: 527-534. (Pubitemid 39077160)
8. Njajou OT, Alizadeh BZ, Aulchenko Y, et al. Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study. Hum Hered 2006; 61: 222-228. (Pubitemid 44357219)
9. Liu F, Elefante S, van Duijn CM, et al. Ignoring distant genealogic loops leads to false-positives in homozygosity mapping. Ann Hum Genet 2006; 70: 965-970. (Pubitemid 44530659)
10. Liu F, Arias-Vásquez A, Sleegers K, et al. A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet 2007; 81: 17-31. (Pubitemid 47001153)
11. Boezen HM, Vonk JM, van Aalderen WM, et al. Perinatal predictors of respiratory symptoms and lung function at a young adult age. Eur Respir J 2002; 20: 383-390.
12. Quanjer PH, Tammeling GJ, Cotes JE, et al. Lung volumes and forced ventilatory flows. Eur Respir J 1993; 6: Suppl. 16, 5-40.
13. van Diemen CC, Postma DS, Vonk JM, et al. 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)
14. van Diemen CC, Postma DS, Vonk JM, et al. Decorin and TGF-β1 polymorphisms and development of COPD in a general population. Respir Res 2006; 7: 89.
15. Global Initiative for Chronic Obstructive Lung Disease. Global Strategy for the Diagnosis, Management and Prevention of Chronic Obstructive Pulmonary Disease (updated 2006). www.goldcopd.com/Guidelineitem.asp?l1=2&l2= 1&intld=996 Date last updated: 2007. Date last accessed: June 2008.
16. Gosman MM, Boezen HM, van Diemen CC, et al. A disintegrin and metalloprotease 33 and chronic obstructive pulmonary disease pathophysiology. Thorax 2007; 62: 242-247. (Pubitemid 46579805)
17. Celedon JC, Lange C, Raby BA, et al. The transforming growth factor-β1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet 2004; 13: 1649-1656.
18. Su ZG, Wen FQ, Feng YL, et al. Transforming growth factor-β1 gene polymorphisms associated with chronic obstructive pulmonary disease in Chinese population. Acta Pharmacol Sin 2005; 26: 714-720.
19. Wu L, Chau J, Young RP, et al. Transforming growth factor-β1 genotype and susceptibility to chronic obstructive pulmonary disease. Thorax 2004; 59: 126-129. (Pubitemid 38223483)
20. Guo X, Lin HM, Lin Z, et al. Surfactant protein gene A, B, and D marker alleles in chronic obstructive pulmonary disease of a Mexican population. Eur Respir J 2001; 18: 482-490. (Pubitemid 32895633)
21. Heidinger K, Konig IR, Bohnert A, et al. Polymorphisms in the human surfactant protein-D (SFTPD) gene: strong evidence that serum levels of surfactant protein-D (SP-D) are genetically influenced. Immunogenetics 2005; 57: 1-7. (Pubitemid 40591241)
22. Hersh CP, DeMeo DL, Lazarus R, et al. Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2006; 173: 977-984. (Pubitemid 44285520)
23. Leth-Larsen R, Garred P, Jensenius H, et al. A common polymorphism in the SFTPD gene influences assembly, function, and concentration of surfactant protein D. J Immunol 2005; 174: 1532-1538.
24. Joos L, He JQ, Shepherdson MB, et al. The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function. Hum Mol Genet 2002; 11: 569-576. (Pubitemid 34257493)
25. Rutter JL, Mitchell TI, Buttice G, et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 1998; 58: 5321-5325. (Pubitemid 28551108)
26. Price SJ, Greaves DR, Watkins H. Identification of novel, functional genetic variants in the human matrix metalloproteinase-2 gene: role of Sp1 in allele-specific transcriptional regulation. J Biol Chem 2001; 276: 7549-7558. (Pubitemid 37392068)
27. Ito I, Nagai S, Handa T, et al. Matrix metalloproteinase-9 promoter polymorphism associated with upper lung dominant emphysema. Am J Respir Crit Care Med 2005; 172: 1378-1382. (Pubitemid 43069810)
28. Lose F, Thompson PJ, Duffy D, et al. A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women. Thorax 2005; 60: 623-628. (Pubitemid 41129058)
29. Siedlinski M, van Diemen CC, Postma DS, et al. Heme oxygenase 1 variations and lung function decline in smokers: proof of replication. J Med Genet 2008; 45: 400. (Pubitemid 351839483)
30. Ishii T, Matsuse T, Teramoto S, et al. Glutathione S-transferase P1 (GSTP1) polymorphism in patients with chronic obstructive pulmonary disease. Thorax 1999; 54: 693-696. (Pubitemid 29341405)
31. Sundberg K, Johansson AS, Stenberg G, et al. Differences in the catalytic efficiencies of allelic variants of glutathione transferase P1-1 towards carcinogenic diol epoxides of polycyclic aromatic hydrocarbons. Carcinogenesis 1998; 19: 433-436. (Pubitemid 28375445)
32. Vibhuti A, Arif E, Deepak D, et al. Genetic polymorphisms of GSTP1 and mEPHX correlate with oxidative stress markers and lung function in COPD. Biochem Biophys Res Commun 2007; 359: 136-142. (Pubitemid 46836679)
33. Boerwinkle E, Chakraborty R, Sing CF. The use of measured genotype information in the analysis of quantitative phenotypes in man. I. Models and analytical methods. Ann Hum Genet 1986; 50: 181-194.
34. Aulchenko YS, de Koning DJ, Haley C. Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis. Genetics 2007; 177: 577-585. (Pubitemid 47555872)
35. Gilmour R., Gogel BJ., Cullis BR., Welham SJ., Thompson R. ASReml User Guide Release 1.0. Hemel Hempstead, VSN International, 2002.
36. Ogawa E, Ruan J, Connett JE, et al. Transforming growth factor-β1 polymorphisms, airway responsiveness and lung function decline in smokers. Respir Med 2007; 101: 938-943. (Pubitemid 46505993)
37. Yoon HI, Silverman EK, Lee HW, et al. Lack of association between COPD and transforming growth factor-β1 (TGFB1) genetic polymorphisms in Koreans. Int J Tuberc Lung Dis 2006; 10: 504-509.
38. van Diemen CC, Postma DS, Vonk JM, et al. Polymorphisms in surfactant proteins and FEV1 decline and development of COPD in the general population. Eur Respir J 2006; 28: Suppl. 50, 143s-144s.
39. Aulchenko YS, Hoppenbrouwers IA, Ramagopalan SV, et al. Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet 2008; 40: 1402-1403.
40. DeMeo DL, Hersh CP, Hoffman EA, et al. Genetic determinants of emphysema distribution in the National Emphysema Treatment Trial. Am J Respir Crit Care Med 2007; 176: 42-48. (Pubitemid 47048053)
41. Martinez FJ, Foster G, Curtis JL, et al. Predictors of mortality in patients with emphysema and severe airflow obstruction. Am J Respir Crit Care Med 2006; 173: 1326-1334. (Pubitemid 43900706)
42. Martinez FJ, Curtis JL, Sciurba F, et al. Gender differences in severe pulmonary emphysema. Am J Respir Crit Care Med 2007; 176: 234-252. (Pubitemid 47195874)