Genetic variation underlying common hereditary hyperbilirubinaemia (Gilbert's syndrome) and respiratory health in the 1946 British birth cohort

Journal of Hepatology

Volumn 61, Issue 6, 2014, Pages 1344-1351

  Horsfall, Laura J ^a   Hardy, Rebecca ^b   Wong, Andrew ^b   Kuh, Diana ^b   Swallow, Dallas M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

Asthma; Bilirubin; Chronic obstructive pulmonary disease; Cohort study.; Polymorphism; Respiratory function; Uridine diphosphate glucuronosyltransferase

Indexed keywords

ADENINE; BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1; THYMINE; GLUCURONOSYLTRANSFERASE; UGT1A1 ENZYME;

ADULT; ARTICLE; ASTHMA; BILIRUBIN BLOOD LEVEL; CHRONIC OBSTRUCTIVE LUNG DISEASE; COHORT ANALYSIS; COMPARATIVE STUDY; FEMALE; FOLLOW UP; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; GILBERT DISEASE; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; PRESCRIPTION; PRIORITY JOURNAL; PROMOTER REGION; RESPIRATORY FUNCTION; RESPIRATORY TRACT DISEASE; SELF REPORT; SMOKING; ADVERSE EFFECTS; AGE; BLOOD; GENETICS; INCIDENCE; LUNG DISEASES; LUNG FUNCTION TEST; MIDDLE AGED; PATHOPHYSIOLOGY; PHYSIOLOGY; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RETROSPECTIVE STUDY; UNITED KINGDOM; VITAL CAPACITY;

ADULT; AGE FACTORS; ASTHMA; BILIRUBIN; COHORT STUDIES; FEMALE; FORCED EXPIRATORY VOLUME; GENETIC VARIATION; GENOTYPE; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; GREAT BRITAIN; HUMANS; INCIDENCE; LUNG DISEASES; MALE; MIDDLE AGED; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RESPIRATORY FUNCTION TESTS; RETROSPECTIVE STUDIES; SMOKING; VITAL CAPACITY;

EID: 84922774172     PISSN: 01688278     EISSN: 16000641     Source Type: Journal    
DOI: 10.1016/j.jhep.2014.07.028     Document Type: Article

References (44)

1. D.M. Mannino, and A.S. Buist Global burden of COPD: risk factors, prevalence, and future trends Lancet 370 2007 765 773
2. K. Juul, A. Tybjaerg-Hansen, S. Marklund, P. Lange, and B.G. Nordestgaard Genetically increased antioxidative protection and decreased chronic obstructive pulmonary disease Am J Respir Crit Care Med 173 2006 858 864
3. T. Nakagami, K. Toyomura, T. Kinoshita, and S. Morisawa A beneficial role of bile pigments as an endogenous tissue protector: anti-complement effects of biliverdin and conjugated bilirubin Biochim Biophys Acta 1158 1993 189 193
4. R. Stocker, Y. Yamamoto, A.F. McDonagh, A.N. Glazer, and B.N. Ames Bilirubin is an antioxidant of possible physiological importance Science 235 1987 1043 1046
5. S.W. Ryter, D. Morse, and A.M. Choi Carbon monoxide and bilirubin: potential therapies for pulmonary/vascular injury and disease Am J Respir Cell Mol Biol 36 2007 175 182
6. H.D. Wang, M. Yamaya, S. Okinaga, Y.X. Jia, M. Kamanaka, and H. Takahashi Bilirubin ameliorates bleomycin-induced pulmonary fibrosis in rats Am J Respir Crit Care Med 165 2002 406 411
7. L.J. Horsfall, G. Rait, K. Walters, D.M. Swallow, S.P. Pereira, and I. Nazareth Serum bilirubin and risk of respiratory disease and death JAMA 305 2011 691 697
8. L.H. Breimer, G. Wannamethee, S. Ebrahim, and A.G. Shaper Serum bilirubin and risk of ischemic heart disease in middle-aged British men Clin Chem 41 1995 1504 1508
9. I. Curjuric, M. Imboden, M. Adam, R.W. Bettschart, M.W. Gerbase, and N. Kunzli Serum bilirubin is associated with lung function in a Swiss general population sample Eur Respir J 43 5 2014 1278 1288
10. T.W. Kang, H.J. Kim, H. Ju, J.H. Kim, Y.J. Jeon, and H.C. Lee Genome-wide association of serum bilirubin levels in Korean population Hum Mol Genet 19 2010 3672 3678
11. A.D. Johnson, M. Kavousi, A.V. Smith, M.H. Chen, A. Dehghan, and T. Aspelund Genome-wide association meta-analysis for total serum bilirubin levels Hum Mol Genet 18 2009 2700 2710
12. G. Chen, E. Ramos, A. Adeyemo, D. Shriner, J. Zhou, and A.P. Doumatey UGT1A1 is a major locus influencing bilirubin levels in African Americans Eur J Hum Genet 20 2012 463 468
13. P.J. Bosma, J.R. Chowdhury, C. Bakker, S. Gantla, A. de Boer, and B.A. Oostra The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome N Engl J Med 333 1995 1171 1175
14. G.D. Smith, and S. Ebrahim 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol 32 2003 1 22
15. M. Stafford, S. Black, I. Shah, R. Hardy, M. Pierce, and M. Richards Using a birth cohort to study ageing: representativeness and response rates in the National Survey of Health and Development Eur J Ageing 10 2013 145 157
16. M. Wadsworth, D. Kuh, M. Richards, and R. Hardy Cohort profile: the 1946 National Birth Cohort (MRC National Survey of Health and Development) Int J Epidemiol 35 2006 49 54
17. M.E. Wadsworth, S.L. Butterworth, R.J. Hardy, D.J. Kuh, M. Richards, and C. Langenberg The life course prospective design: an example of benefits and problems associated with study longevity Soc Sci Med 57 2003 2193 2205
18. â -5 allele on respiratory function Ann Hum Genet 70 2006 417 427
19. K. Borucki, C. Weikert, E. Fisher, S. Jakubiczka, C. Luley, and S. Westphal Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers Clin Biochem 42 2009 1635 1641
20. J.P. Lin, L.A. Cupples, P.W. Wilson, N. Heard-Costa, and C.J. O'Donnell Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study Am J Hum Genet 72 2003 1029 1034
21. J. Sugatani, K. Yamakawa, K. Yoshinari, T. Machida, H. Takagi, and M. Mori Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia Biochem Biophys Res Commun 292 2002 492 497
22. E. Beutler, T. Gelbart, and A. Demina Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci U S A 95 1998 8170 8174
23. V. Chaar, L. Keclard, J.P. Diara, C. Leturdu, J. Elion, and R. Krishnamoorthy Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia Haematologica 90 2005 188 199
24. M. Sampietro, L. Lupica, L. Perrero, R. Romano, V. Molteni, and G. Fiorelli TATA-box mutant in the promoter of the uridine diphosphate glucuronosyltransferase gene in Italian patients with Gilbert's syndrome Ital J Gastroenterol Hepatol 30 1998 194 198
25. E. Falaschetti, J. Laiho, P. Primatesta, and S. Purdon Prediction equations for normal and low lung function from the Health Survey for England Eur Respir J 23 2004 456 463
26. E.W. Steyerberg Clinical prediction models: a practical approach to development, validation, and updating 2009 Springer New York
27. G.E. McClearn, M. Svartengren, N.L. Pedersen, D.A. Heller, and R. Plomin Genetic and environmental influences on pulmonary function in aging Swedish twins J Gerontol 49 1994 264 268
28. D.J. Gottlieb, J.B. Wilk, M. Harmon, J.C. Evans, O. Joost, and D. Levy Heritability of longitudinal change in lung function. The Framingham study Am J Respir Crit Care Med 164 2001 1655 1659
29. W. Tang, A.R. Bentley, S.B. Kritchevsky, T.B. Harris, A.B. Newman, and D.C. Bauer Genetic variation in antioxidant enzymes, cigarette smoking, and longitudinal change in lung function Free Radic Biol Med 63 2013 304 312
30. A.R. Bentley, S.B. Kritchevsky, T.B. Harris, A.B. Newman, D.C. Bauer, and B. Meibohm Genetic variation in antioxidant enzymes and lung function Free Radic Biol Med 52 2012 1577 1583
31. J.D. Angrist, G.W. Imbens, and D.B. Rubin Identification of causal effects using instrumental variables J Am Stat Assoc 91 1996 444 455
32. L.E. Fredenburgh, M.A. Perrella, and S.A. Mitsialis The role of heme oxygenase-1 in pulmonary disease Am J Respir Cell Mol Biol 36 2007 158 165
33. A. Guenegou, B. Leynaert, J. Benessiano, I. Pin, P. Demoly, and F. Neukirch Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France J Med Genet 43 2006 e43
34. â -28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study Circulation 114 2006 1476 1481
35. â-28 polymorphism and predicts long-term cardiovascular events and mortality in chronic hemodialysis patients Clin J Am Soc Nephrol 6 2011 567 574
36. A.J. Cox, M.C. Ng, J. Xu, C.D. Langefeld, K.L. Koch, and P.A. Dawson Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study Atherosclerosis 229 2013 155 160
37. S. Stender, R. Frikke-Schmidt, B.G. Nordestgaard, P. Grande, and A. Tybjaerg-Hansen Genetically elevated bilirubin and risk of ischaemic heart disease: three Mendelian randomization studies and a meta-analysis J Intern Med 273 2013 59 68
38. B.A. Ference, W. Yoo, I. Alesh, N. Mahajan, K.K. Mirowska, and A. Mewada Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis J Am Coll Cardiol 60 2012 2631 2639
39. U. Ehmer, S. Kalthoff, B. Fakundiny, B. Pabst, N. Freiberg, and R. Naumann Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation Hepatology 55 2012 1912 1921
40. M.F. Yueh, and R.H. Tukey Nrf2-Keap1 signaling pathway regulates human UGT1A1 expression in vitro and in transgenic UGT1 mice J Biol Chem 282 2007 8749 8758
41. W.S. Waring, J.A. McKnight, D.J. Webb, and S.R. Maxwell Uric acid restores endothelial function in patients with type 1 diabetes and regular smokers Diabetes 55 2006 3127 3132
42. A. Premawardhena, C.A. Fisher, Y.T. Liu, I.C. Verma, S. de Silva, and M. Arambepola The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications Blood Cells Mol Dis 31 2003 98 101
43. L.J. Horsfall, D. Zeitlyn, A. Tarekegn, E. Bekele, M.G. Thomas, and N. Bradman Prevalence of clinically relevant UGT1A alleles and haplotypes in African populations Ann Hum Genet 75 2011 236 246
44. F. Najib Defensive role of bilirubinemia in pneumococcal infection Lancet 229 1937 505 506