MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha

Journal of Proteomics

Volumn 75, Issue 12, 2012, Pages 3386-3399

  Richter, Dominique ^a   Harsch, Simone ^a   Strohmeyer, André ^a   Hirobe Jahn, Satoko ^a   Schimmel, Silke ^a   Renner, Olga ^a   Müller, Oliver ^c   Schäffeler, Elke ^a   Kratzer, Wolfgang ^b   Schwab, Matthias ^a   Stange, Eduard F ^c  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL ULM   (Germany)

^c ROBERT BOSCH HOSPITAL   (Germany)

Author keywords

ASBT; Gallstone; HNF1alpha; Male; Polymorphism; SNP

Indexed keywords

APICAL SODIUM DEPENDENT BILE ACID TRANSPORTER; BILE ACID; BINDING PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BINDING SITE; CHOLELITHIASIS; CONTROLLED STUDY; DISEASE CARRIER; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN TRANSPORT; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; BIOLOGICAL MARKERS; CHOLELITHIASIS; DNA; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HUMANS; MALE; MIDDLE AGED; SEQUENCE ANALYSIS, DNA; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 84862187392     PISSN: 18743919     EISSN: 18767737     Source Type: Journal    
DOI: 10.1016/j.jprot.2012.04.036     Document Type: Article

References (101)

1. Jackson P.E., Scholl P.F., Groopman J.D. Mass spectrometry for genotyping: an emerging tool for molecular medicine. Mol Med Today 2000, 6:271-276.
2. Karas M., Hillenkamp F. Laser desorption ionization of proteins with molecular masses exceeding 10,000Daltons. Anal Chem 1988, 60:2299-2301.
3. Tanaka K., Waki H., Ido Y., Akita S., et al. Protein and polymer analyses up to m/z 100000 by laser ionization time-of-flight mass spectrometry. Rapid Commun Mass Spectrom 1988, 2:151-153.
4. Fitzgerald M.C., Zhu L., Smith L.M. The analysis of mock DNA sequencing reactions using matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1993, 7:895-897.
5. Smith L.M. The future of DNA sequencing. Science 1993, 262:530-532.
6. Nordhoff E., Ingendoh A., Cramer R., Overberg A., et al. Matrix-assisted laser desorption/ionization mass spectrometry of nucleic acids with wavelengths in the ultraviolet and infrared. Rapid Commun Mass Spectrom 1992, 6:771-776.
7. Nordhoff E., Kirpekar F., Karas M., Cramer R., et al. Comparison of IR- and UV-matrix-assisted laser desorption/ionization mass spectrometry of oligodeoxynucleotides. Nucleic Acids Res 1994, 22:2460-2465.
8. Wu K.J., Shaler T.A., Becker C.H. Time-of-flight mass spectrometry of underivatized single-stranded DNA oligomers by matrix-assisted laser desorption. Anal Chem 1994, 66:1637-1645.
9. Wu K.J., Steding A., Becker C.H. Matrix-assisted laser desorption time-of-flight mass spectrometry of oligonucleotides using 3-hydroxypicolinic acid as an ultraviolet-sensitive matrix. Rapid Commun Mass Spectrom 1993, 7:142-146.
10. Pieles U., Zürcher W., Schär M., Moser H. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry: a powerful tool for the mass and sequence analysis of natural and modified oligonucleotides. Nucleic Acids Res 1993, 21:3191-3196.
11. Tolson D.A., Nicholson N.H. Sequencing RNA by a combination of exonuclease digestion and uridine specific chemical cleavage using MALDI-TOF. Nucleic Acids Res 1998, 26:446-451.
12. Vestal M.L., Juhasz P., Martin S.A. Delayed extraction matrix-assisted laser desorption time-of-flight mass spectrometry. Rapid Commun Mass Spectrom 1995, 9:1044-1050.
13. Griffin T.J., Tang W., Smith L.M. Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry. Nat Biotechnol 1997, 15:1368-1372.
14. Tost J., Gut I.G. Genotyping single nucleotide polymorphisms by mass spectrometry. Mass Spectrom Rev 2002, 21:388-418.
15. Griffin T.J., Hall J.G., Prudent J.R., Smith L.M. Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry. Proc Natl Acad Sci 1999, 96:6301-6306.
16. Syvänen A.-C., Aalto-Setälä K., Harju L., Kontula K., Söderlund H. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 1990, 8:684-692.
17. Haff L.A., Smirnov I.P. Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res 1997, 7:378-388.
18. Sauer S., Lechner D., Berlin K., Lehrach H., et al. A novel procedure for efficient genotyping of single nucleotide polymorphisms. Nucleic Acids Res 2000, 28:e13-e13.
19. Sauer S., Lechner D., Berlin K., Plancon C., et al. Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay. Nucleic Acids Res 2000, 28:E100.
20. Braun A., Little D.P., Koster H. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin Chem 1997, 43:1151-1158.
21. Hung K., Sun X., Ding H., Kalafatis M., et al. A matrix-assisted laser desorption/ionization time-of-flight based method for screening the 1691G-> A mutation in the factor V gene. Blood Coagul Fibrinolysis 2002, 13:117-122.
22. Tost J., Gut I.G. Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications. Clin Biochem 2005, 38:335-350.
23. Lander E.S., Linton L.M., Birren B., Nusbaum C., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
24. Sachidanandam R., Weissman D., Schmidt S.C., Kakol J.M., et al. A map of human genome sequence variation containing 1.42million single nucleotide polymorphisms. Nature 2001, 409:928-933.
25. Weber J.L., Wong C. Mutation of human short tandem repeats. Hum Mol Genet 1993, 2:1123-1128.
26. Gohlke H., Illig T., Bahnweg M., Klopp N., et al. Association of the interleukin-1 receptor antagonist gene with asthma. Am J Respir Crit Care Med 2004, 169:1217-1223.
27. Turgut S., Yaren A., Kursunluoglu R., Turgut G. MDR1 C3435T polymorphism in patients with breast cancer. Arch Med Res 2007, 38:539-544.
28. Ho G.T., Nimmo E.R., Tenesa A., Fennell J., et al. Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis. Gastroenterology 2005, 128:288-296.
29. Douglas J.A., Erdos M.R., Watanabe R.M., Braun A., et al. The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences. Diabetes 2001, 50:886-890.
30. Suviolahti E., Oksanen L.J., Ohman M., Cantor R.M., et al. The SLC6A14 gene shows evidence of association with obesity. J Clin Invest 2003, 112:1762-1772.
31. Kratzer W., Mason R.A., Kächele V. Prevalence of gallstones in sonographic surveys worldwide. J Clin Ultrasound 1999, 27:1-7.
32. Marschall H.U., Einarsson C. Gallstone disease. J Intern Med 2007, 261:529-542.
33. Ahlberg J., Angelin B., Einarsson K., Hellstrom K., Leijd B. Prevalence of gallbladder disease in hyperlipoproteinemia. Dig Dis Sci 1979, 24:459-464.
34. Amaral J.F., Thompson W.R. Gallbladder disease in the morbidly obese. Am J Surg 1985, 149:551-557.
35. Attili A.F., Capocaccia R., Carulli N., Festi D., et al. Factors associated with gallstone disease in the MICOL experience. Multicenter Italian Study on Epidemiology of Cholelithiasis. Hepatology 1997, 26:809-818.
36. Eckel R.H., Grundy S.M., Zimmet P.Z. The metabolic syndrome. Lancet 2005, 365:1415-1428.
37. Grundy S.M. Cholesterol gallstones: a fellow traveler with metabolic syndrome?. Am J Clin Nutr 2004, 80:1-2.
38. Nervi F., Miquel J.F., Alvarez M., Ferreccio C., et al. Gallbladder disease is associated with insulin resistance in a high risk Hispanic population. J Hepatol 2006, 45:299-305.
39. Scragg R.K., Calvert G.D., Oliver J.R. Plasma lipids and insulin in gall stone disease: a case-control study. Br Med J (Clin Res Ed) 1984, 289:521-525.
40. Stampfer M.J., Maclure K.M., Colditz G.A., Manson J.E., Willett W.C. Risk of symptomatic gallstones in women with severe obesity. Am J Clin Nutr 1992, 55:652-658.
41. Katsika D., Grjibovski A., Einarsson C., Lammert F., et al. Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs. Hepatology 2005, 41:1138-1143.
42. Nakeeb A., Comuzzie A.G., Martin L., Sonnenberg G.E., et al. Gallstones: genetics versus environment. Ann Surg 2002, 235:842-849.
43. Lyons M.A., Wittenburg H. Cholesterol gallstone susceptibility loci: a mouse map, candidate gene evaluation, and guide to human LITH genes. Gastroenterology 2006, 131:1943-1970.
44. Puppala S., Dodd G.D., Fowler S., Arya R., et al. A genomewide search finds major susceptibility loci for gallbladder disease on chromosome 1 in Mexican Americans. Am J Hum Genet 2006, 78:377-392.
45. Wittenburg H., Lyons M.A., Li R., Churchill G.A., et al. FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice. Gastroenterology 2003, 125:868-881.
46. Buch S., Schafmayer C., Volzke H., Becker C., et al. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet 2007, 39:995-999.
47. Grunhage F., Acalovschi M., Tirziu S., Walier M., et al. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. Hepatology 2007, 46:793-801.
48. Katsika D., Magnusson P., Krawczyk M., Grunhage F., et al. Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype. J Intern Med 2010, 268:279-285.
49. Srivastava A., Srivastava K., Choudhuri G., Mittal B. Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India. J Gastroenterol Hepatol 2010, 25:1758-1762.
50. Rosmorduc O., Hermelin B., Boelle P.Y., Parc R., et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003, 125:452-459.
51. Rosmorduc O., Hermelin B., Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001, 120:1459-1467.
52. Lammert F., Wang D.Q., Hillebrandt S., Geier A., et al. Spontaneous cholecysto- and hepatolithiasis in Mdr2-/- mice: a model for low phospholipid-associated cholelithiasis. Hepatology 2004, 39:117-128.
53. Denk G.U., Bikker H., Lekanne Dit Deprez R.H., Terpstra V., et al. ABCB4 deficiency: a family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene. Hepatol Res 2010, 40:937-941.
54. Nakken K.E., Labori K.J., Rodningen O.K., Nakken S., et al. ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver Int 2009, 29:743-747.
55. Dowling R.H. Review: pathogenesis of gallstones. Aliment Pharmacol Ther 2000, Suppl. 2:39-47.
56. Berr F., Pratschke E., Fischer S., Paumgartner G. Disorders of bile acid metabolism in cholesterol gallstone disease. J Clin Invest 1992, 90:859-868.
57. Kern F. Effects of dietary cholesterol on cholesterol and bile acid homeostasis in patients with cholesterol gallstones. J Clin Invest 1994, 93:1186-1194.
58. Lamont J.T., Carey M.C. Cholesterol gallstone formation. 2. Pathobiology and pathomechanics. Prog Liver Dis 1992, 10:165-191.
59. Zanlungo S., Nervi F. The molecular and metabolic basis of biliary cholesterol secretion and gallstone disease. Front Biosci 2003, 8:s1166-s1174.
60. Zanlungo S., Rigotti A., Nervi F. Hepatic cholesterol transport from plasma into bile: implications for gallstone disease. Curr Opin Lipidol 2004, 15:279-286.
61. Kullak-Ublick G.A., Stieger B., Meier P.J. Enterohepatic bile salt transporters in normal physiology and liver disease. Gastroenterology 2004, 126:322-342.
62. Wong M.H., Oelkers P., Dawson P.A. Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity. J Biol Chem 1995, 270:27228-27234.
63. Love M.W., Craddock A.L., Angelin B., Brunzell J.D., et al. Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia. Arterioscler Thromb Vasc Biol 2001, 21:2039-2045.
64. Oelkers P., Kirby L.C., Heubi J.E., Dawson P.A. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J Clin Invest 1997, 99:1880-1887.
65. Renner O., Harsch S., Schaeffeler E., Winter S., et al. A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease. PLoS One 2009, 4:e7321.
66. Angelin B., Hershon K.S., Brunzell J.D. Bile acid metabolism in hereditary forms of hypertriglyceridemia: evidence for an increased synthesis rate in monogenic familial hypertriglyceridemia. Proc Natl Acad Sci U S A 1987, 84:5434-5438.
67. Duane W.C., Hartich L.A., Bartman A.E., Ho S.B. Diminished gene expression of ileal apical sodium bile acid transporter explains impaired absorption of bile acid in patients with hypertriglyceridemia. J Lipid Res 2000, 41:1384-1389.
68. Bergheim I., Harsch S., Mueller O., Schimmel S., et al. Apical sodium bile acid transporter and ileal lipid binding protein in gallstone carriers. J Lipid Res 2006, 47:42-50.
69. Parini P., Jiang Z.Y., Einarsson C., Eggertsen G., et al. ACAT2 and human hepatic cholesterol metabolism: identification of important gender-related differences in normolipidemic, non-obese Chinese patients. Atherosclerosis 2009, 207:266-271.
70. Cui W., Jiang Z.Y., Cai Q., Zhang R.Y., et al. Decreased NPC1L1 expression in the liver from Chinese female gallstone patients. Lipids Health Dis 2010, 9:17.
71. Pramfalk C., Davis M.A., Eriksson M., Rudel L.L., Parini P. Control of ACAT2 liver expression by HNF1. J Lipid Res 2005, 46:1868-1876.
72. Pramfalk C., Jiang Z.Y., Cai Q., Hu H., et al. HNF1alpha and SREBP2 are important regulators of NPC1L1 in human liver. J Lipid Res 2009, 51:1354-1362.
73. Jung D., Fried M., Kullak-Ublick G.A. Human apical sodium-dependent bile salt transporter gene (SLC10A2) is regulated by the peroxisome proliferator-activated receptor alpha. J Biol Chem 2002, 277:30559-30566.
74. Jung D., Hagenbuch B., Fried M., Meier P.J., Kullak-Ublick G.A. Role of liver-enriched transcription factors and nuclear receptors in regulating the human, mouse, and rat NTCP gene. Am J Physiol Gastrointest Liver Physiol 2004, 286:G752-G761.
75. Shih D.Q., Bussen M., Sehayek E., Ananthanarayanan M., et al. Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism. Nat Genet 2001, 27:375-382.
76. Cereghini S. Liver-enriched transcription factors and hepatocyte differentiation. FASEB J 1996, 10:267-282.
77. Bartkowski S., Zapp D., Weber H., Eberle G., et al. Developmental regulation and tissue distribution of the liver transcription factor LFB1 (HNF1) in Xenopus laevis. Mol Cell Biol 1993, 13:421-431.
78. Pontoglio M., Barra J., Hadchouel M., Doyen A., et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 1996, 84:575-585.
79. Jung D., Kullak-Ublick G.A. Hepatocyte nuclear factor 1 alpha: a key mediator of the effect of bile acids on gene expression. Hepatology 2003, 37:622-631.
80. Wiltshire S., Frayling T.M., Groves C.J., Levy J.C., et al. Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes 2004, 53:855-860.
81. Yamagata K., Oda N., Kaisaki P.J., Menzel S., et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996, 384:455-458.
82. Biddinger S.B., Haas J.T., Yu B.B., Bezy O., et al. Hepatic insulin resistance directly promotes formation of cholesterol gallstones. Nat Med 2008, 14:778-782.
83. Haffner S.M., Diehl A.K., Mitchell B.D., Stern M.P., Hazuda H.P. Increased prevalence of clinical gallbladder disease in subjects with non-insulin-dependent diabetes mellitus. Am J Epidemiol 1990, 132:327-335.
84. Klass D.M., Lauer N., Hay B., Kratzer W., Fuchs M. Arg64 variant of the beta3-adrenergic receptor is associated with gallstone formation. Am J Gastroenterol 2007, 102:2482-2487.
85. Kovacs P., Kress R., Rocha J., Kurtz U., et al. Variation of the gene encoding the nuclear bile salt receptor FXR and gallstone susceptibility in mice and humans. J Hepatol 2008, 48:116-124.
86. Herrera J., Amigo L., Husche C., Benitez C., et al. Fecal bile acid excretion and messenger RNA expression levels of ileal transporters in high risk gallstone patients. Lipids Health Dis 2009, 8:53.
87. Cauchi S., Nead K.T., Choquet H., Horber F., et al. The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies. BMC Med Genet 2008, 9:45.
88. Reiner A.P., Barber M.J., Guan Y., Ridker P.M., et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet 2008, 82:1193-1201.
89. Dehghan A., Kardys I., de Maat M.P., Uitterlinden A.G., et al. Genetic variation, C-reactive protein levels, and incidence of diabetes. Diabetes 2007, 56:872-878.
90. Pradhan A.D., Manson J.E., Rifai N., Buring J.E., Ridker P.M. C-reactive protein, interleukin 6, and risk of developing type 2 diabetes mellitus. JAMA 2001, 286:327-334.
91. Fernandez-Hernando C., Suarez Y., Rayner K.J., Moore K.J. MicroRNAs in lipid metabolism. Curr Opin Lipidol 2011, 22:86-92.
92. Moore K.J., Rayner K.J., Suarez Y., Fernandez-Hernando C. The role of microRNAs in cholesterol efflux and hepatic lipid metabolism. Annu Rev Nutr 2010, 31:49-63.
93. Davalos A., Goedeke L., Smibert P., Ramirez C.M., et al. miR-33a/b contribute to the regulation of fatty acid metabolism and insulin signaling. Proc Natl Acad Sci U S A 2011, 108:9232-9237.
94. Li S., Zhang H., Gao P., Chen Z., et al. A functional mutation at position -155 in porcine APOE promoter affects gene expression. BMC Genet 2011, 12:40.
95. Roff A., Wilson R.T. A novel SNP in a vitamin D response element of the CYP24A1 promoter reduces protein binding, transactivation, and gene expression. J Steroid Biochem Mol Biol 2008, 112:47-54.
96. Hsu L.A., Ko Y.L., Teng M.S., Wu S., et al. Effect of obesity on the association between common variations in the HNF1A gene region and C-reactive protein level in Taiwanese. Clin Chim Acta 2011, 412:725-729.
97. Toniatti C., Demartis A., Monaci P., Nicosia A., Ciliberto G. Synergistic trans-activation of the human C-reactive protein promoter by transcription factor HNF-1 binding at two distinct sites. EMBO J 1990, 9:4467-4475.
98. Murani E., Ponsuksili S., Seyfert H.M., Shi X., Wimmers K. Dual effect of a single nucleotide polymorphism in the first intron of the porcine secreted phosphoprotein 1 gene: allele-specific binding of C/EBP beta and activation of aberrant splicing. BMC Mol Biol 2009, 10:96.
99. Zhang Y., Bertolino A., Fazio L., Blasi G., et al. Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proc Natl Acad Sci U S A 2007, 104:20552-20557.
100. Hunninghake G.M., Soto-Quiros M.E., Avila L., Kim H.P., et al. TSLP polymorphisms are associated with asthma in a sex-specific fashion. Allergy 2010, 65:1566-1575.
101. Kong A., Thorleifsson G., Gudbjartsson D.F., Masson G., et al. Fine-scale recombination rate differences between sexes, populations and individuals. Nature 2010, 467:1099-1103.