Conditional linkage and genome-wide association studies identify UGT1A1 as a major gene for anti-atherogenic serum bilirubin levels-The Framingham Heart Study

Atherosclerosis

Volumn 206, Issue 1, 2009, Pages 228-233

  Lin, Jing Ping ^a   Schwaiger, Johannes P ^b   Cupples, L Adrienne ^c   O'Donnell, Christopher J ^a   Zheng, Gang ^a   Schoenborn, Veit ^b   Hunt, Steven C ^d   Joo, Jungnam ^a   Kronenberg, Florian ^b  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Bilirubin; Genome wide association study; Linkage analysis; UGT1A1

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1;

ADULT; ARTICLE; BILIRUBIN BLOOD LEVEL; BILIRUBIN METABOLISM; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHROMOSOME 2Q; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE CONTROL; GENE FREQUENCY; GENE TARGETING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROMOTER REGION; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ADULT; BILIRUBIN; CHROMOSOMES, HUMAN, PAIR 2; GENOME-WIDE ASSOCIATION STUDY; GLUCURONOSYLTRANSFERASE; HUMANS; LOD SCORE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 68949200960     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.02.039     Document Type: Article

References (34)

1. Schwertner H.A., Jackson W.G., and Tolan G. Association of low serum concentration of bilirubin with increased risk of coronary artery disease. Clin Chem 40 (1994) 18-23
2. Breimer L.H., Wannamethee G., Ebrahim S., and Shaper A.G. Serum bilirubin and risk of ischemic heart disease in middle-aged British men. Clin Chem 41 (1995) 1504-1508
3. Hopkins P.N., Wu L.L., Hunt S.C., et al. Higher serum bilirubin is associated with decreased risk for early familial coronary artery disease. Arterioscler Thromb Vasc Biol 16 (1996) 250-255
4. Levinson S.S. Relationship between bilirubin, apolipoprotein B, and coronary artery disease. Ann Clin Lab Sci 27 (1997) 185-192
5. Hunt S.C., Kronenberg F., Eckfeldt J.H., et al. Association of plasma bilirubin with coronary heart disease and segregation of bilirubin as a major gene trait: The NHLBI Family Heart Study. Atherosclerosis 154 (2001) 747-754
6. Rantner B., Kollerits B., Anderwald-Stadler M., et al. Association between the UGT1A1 TA-repeat polymorphism and bilirubin concentration in patients with intermittent claudication: results from the CAVASIC Study. Clin Chem 54 (2008) 851-857
7. Lingenhel A., Kollerits B., Schwaiger J.P., et al. Serum bilirubin levels, UGT1A1 polymorphisms and risk for coronary artery disease. Exp Gerontol 43 (2008) 1102-1107
8. Lin J.-P., O'Donnell C.J., Schwaiger J.P., et al. Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study. Circulation 114 (2006) 1476-1481
9. Hunt S.C., Wu L.L., Hopkins P.N., and Williams R.R. Evidence for a major gene elevating serum bilirubin concentration in Utah pedigrees. Arterioscler Thromb Vasc Biol 16 (1996) 912-917
10. Lin J.P., Cupples L.A., Wilson P.W., Heard-Costa N., and O'Donnell C.J. 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
11. Kronenberg F., Coon H., Gutin A., et al. A genome scan for loci influencing anti-atherogenic serum bilirubin levels. Eur J Hum Genet 10 (2002) 539-546
12. Bosma P.J., Chowdhury J.R., Bakker C., et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333 (1995) 1171-1175
13. Monaghan G., Ryan M., Seddon R., Hume R., and Burchell B. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 347 (1996) 578-581
14. Beutler E., Gelbart T., and Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Proc Natl Acad Sci USA 95 (1998) 8170-8174
15. Cupples L.A., Arruda H.T., Benjamin E.J., et al. The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet 8 Suppl. 1 (2007) S1
16. Herbert A., Gerry N.P., McQueen M.B., et al. A common genetic variant is associated with adult and childhood obesity. Science 312 (2006) 279-283
17. Almasy L., and Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62 (1998) 1198-1211
18. Freidlin B., Zheng G., Li Z., and Gastwirth J.L. Trend tests for case-control studies of genetic markers: power, sample size and robustness. Hum Hered 53 (2002) 146-152
19. Zheng G., Joo J., Lin J.P., et al. Robust ranks of true associations in genome-wide case-control association studies. BMC Proc 1 Suppl. 1 (2007) S165
20. van Dijk E.L., Schilders G., and Pruijn G.J. Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. RNA 13 (2007) 1027-1035
21. Clerget-Darpoux F., and Elston R.C. Are linkage analysis and the collection of family data dead? Prospects for family studies in the age of genome-wide association. Hum Hered 64 (2007) 91-96
22. Visscher P.M., Andrew T., and Nyholt D.R. Genome-wide association studies of quantitative traits with related individuals: little (power) lost but much to be gained. Eur J Hum Genet 16 (2008) 387-390
23. Maitland M.L., Grimsley C., Kuttab-Boulos H., et al. Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J 6 (2006) 52-62
24. Borlak J., Thum T., Landt O., Erb K., and Hermann R. Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. Hepatology 32 (2000) 792-795
25. Hong A.L., Huo D., Kim H.J., et al. UDP-glucuronosyltransferase 1A1 gene polymorphisms and total bilirubin levels in an ethnically diverse cohort of women. Drug Metab Dispos 35 (2007) 1254-1261
26. Sugatani J., Yamakawa K., Yoshinari K., et al. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 292 (2002) 492-497
27. Maruo Y., D'Addario C., Mori A., et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 115 (2004) 525-526
28. Lin Z., Fontaine J., and Watchko J.F. Coexpression of gene polymorphisms involved in bilirubin production and metabolism. Pediatrics 122 (2008) e156-e162
29. Aulchenko Y.S., Ripatti S., Lindquist I., et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 41 (2009) 47-55
30. Heid I.M., Boes E., Müller A., et al. Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA Study sheds new light on intergenic regions. Circ Cardiovasc Genet 1 (2008) 10-20
31. Bosma P.J., van dM I., Bakker C.T., et al. UGT1A1*28 allele and coronary heart disease: The Rotterdam Study. Clin Chem 49 (2003) 1180-1181
32. Gajdos V., Petit F.M., Perret C., et al. Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study. Clin Chem 52 (2006) 2313-2314
33. Marin F., Gonzalez-Conejero R., Lee K.W., et al. A pharmacogenetic effect of factor XIII valine 34 leucine polymorphism on fibrinolytic therapy for acute myocardial infarction. J Am Coll Cardiol 45 (2005) 25-29
34. Schwertner H.A., and Vitek L. Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin. Atherosclerosis 198 (2008) 1-11