Common variants of ABCB4 and ABCB11 and plasma lipid levels: A study in sib pairs with gallstones, and controls

Lipids

Volumn 44, Issue 6, 2009, Pages 521-526

  Acalovschi, Monica ^a   Tirziu, Simona ^a   Chiorean, Erica ^a   Krawczyk, Marcin ^b   Grünhage, Frank ^b   Lammert, Frank ^b  

^a IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b SAARLAND UNIVERSITY   (Germany)

Author keywords

ABCB11; ABCB4; Candidate genes; Gallstones; HDL cholesterol; Polymorphisms; Serum triglycerides

Indexed keywords

BILE SALT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; NUCLEASE; TRIACYLGLYCEROL;

ABCB11 GENE; ABCB4 GENE; ADULT; ALLELE; ARTICLE; BODY MASS; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSLIPIDEMIA; FEMALE; FLUORESCENCE ANALYSIS; GALLSTONE; GENE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PHOSPHOLIPID TRANSFER; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDY; RISK ASSESSMENT; RISK FACTOR; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; STONE FORMATION; TRIACYLGLYCEROL BLOOD LEVEL;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; GALLSTONES; GENETIC VARIATION; GENOTYPE; HUMANS; LIPIDS; MALE; MIDDLE AGED; P-GLYCOPROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SIBLINGS;

EID: 66549091098     PISSN: 00244201     EISSN: 15589307     Source Type: Journal    
DOI: 10.1007/s11745-009-3300-z     Document Type: Article

References (32)

1. M Acalovschi DL Dumitrascu I Caluser A Ban 1987 Comparative prevalence of gallstone disease at 100-year interval in a large Romanian town. A necroptic study Dig Dis Sci 32 354 357 (Pubitemid 17061262)
2. T Bates M Harrison D Lowe C Lawson N Padley 1992 Longitudinal study of gallstone prevalence at necropsy Gut 33 103 107
3. M Acalovschi M Pascu S Iobagiu M Petrescu CD Olinici 1995 Increasing gallstone prevalence and cholecystectomy rate in a large Romanian town Dig Dis Sci 40 2582 2586 (Pubitemid 26032349)
4. F Lammert T Sauerbruch 2005 Mechanisms of disease: the genetic epidemiology of gallbladder stones Nat Clin Pract Gastroenterol Hepatol 2 423 433 (Pubitemid 41486095)
5. JE Everhart M Khare M Hill KR Maurer 1999 Prevalence and ethnic differences in gallbladder disease in the United States Gastroenterology 117 632 639 (Pubitemid 29409249)
6. P Portincasa A Moschetta G Palasciano 2006 Cholesterol gallstone disease Lancet 368 230 239 (Pubitemid 44037798)
7. J Ahlberg 1979 Serum lipid levels and hyperlipoproteinaemia in gallstone patients Acta Chir Scand 145 373 377 (Pubitemid 10160957)
8. D Petitti GD Friedman AL Klatsky 1981 Association of a history of gallbladder disease with a reduced concentration of high-density-lipoprotein cholesterol N Engl J Med 304 1396 1398 (Pubitemid 11073571)
9. M Acalovschi A Ciocan O Mosteanu S Tarziu E Chiorean H Keppeler R Schirin-Sokhan F Lammert 2006 Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones Eur J Int Med 17 490 494 (Pubitemid 44708739)
10. H Nagasaka T Yorifuji H Egawa H Yanai T Fujisawa K Kosugiyama A Matsui M Hasegawa T Okada M Takayanagi H Chiba K Kobayashi 2005 Evaluation of risk for atherosclerosis in Alagille syndrome and progressive familial intrahepatic cholestasis: two congenital cholestatic diseases with different lipoprotein metabolisms J Pediatr 146 329 335 (Pubitemid 40341741)
11. H Nagasaka H Chiba SP Hui H Takikawa T Miida M Takayanagi T Yorifuji M Hasegawa A Ota K Hirano H Kikuchi H Tsukahara K Kobayashi 2007 Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis J Pediatr Gastroenterol Nutr 45 96 105 (Pubitemid 47012337)
12. Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E (2009) Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 4. doi: 10.1186/1750-1172-4-1
13. HE Wasmuth A Glantz H Keppeler E Simon C Bartz W Rath LA Mattsson HU Marschall F Lammert 2007 Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene Gut 56 265 270 (Pubitemid 46246216)
14. O Rosmorduc B Hermelin PY Boelle R Parc J Taboury R Poupon 2003 ABCB4 gene mutation-associated cholelithiasis in adults Gastroenterology 125 452 459 (Pubitemid 36929427)
15. E Jacquemin 2001 Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases Semin Liver Dis 21 551 562 (Pubitemid 33131047)
16. J Shoda K Oda H Suzuki Y Sugiyama K Ito DE Cohen 2001 Etiologic significance of defects in cholesterol, phospholipid and bile acid metabolism in the liver of patients with intrahepatic calculi Hepatology 33 1194 1205 (Pubitemid 32378220)
17. CR Pullinger C Eng G Salen S Shefer SK Erickson A Verhagen CR Rivera SJ Mulvihill MJ Malloy JP Kane 2002 Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype J Clin Invest 110 109 117 (Pubitemid 34743471)
18. LJ Miller EL Holicky CD Ulrich ED Wieben 1995 Abnormal processing of the human cholecystokinin receptor gene in association with gallstones and obesity Gastroenterology 109 1375 1380
19. Krawczyk M, Wolska M, Grünhage F, Sauerbruch T, Acalovschi M, Lammert F (2008) Common ABCB4 and ABCB11 transporter gene variants are not associated with susceptibility to gallstone formation in the general population. Z Gastroenterol 46:150 (abstr.)
20. C Schafmayer J Tepel A Franke S Buch S Lieb M Seeger F Lammert B Kremer UR Fölsch F Fändrich S Schreiber J Hampe 2006 Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease Hepatology 44 650 657 (Pubitemid 44433721)
21. K Miyasaka Y Takata A Funakoshi 2002 Association of cholecystokinin A receptor polymorphism with cholelithiasis and the molecular mechanisms of this polymorphism J Gastroenterol 37 102 106 (Pubitemid 35385939)
22. F Grunhage M Acalovschi S Tirziu M Walier TF Wienker A Ciocan O Mosteanu T Sauerbruch F Lammert 2007 Increased gallstone risk in humans conferred by common variant of hepatic atp-binding cassette transporter for cholesterol Hepatology 46 793 801 (Pubitemid 47436126)
23. S Buch C Schafmayer H Völzke C Becker A Franke H von Eller-Eberstein C Kluck I Bässmann M Brosch F Lammert JF Miquel F Nervi M Wittig D Rosskopf B Timm C Höll M Seeger A ElSharawy T Lu J Egberts F Fändrich UR Fölsch M Krawczak S Schreiber P Nürnberg J Tepel J Hampe 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease Nat Genet 39 995 999 (Pubitemid 47185186)
24. RPJ Oude Elferink R Ottenhoff M van Wijland CMG Frijters C van Nieuwkerk AK Groen 1996 Uncoupling of biliary phospholipid and cholesterol secretion in mice with reduced expression of mdr2 P-glycoprotein J Lipid Res 37 1065 1075 (Pubitemid 26182339)
25. O Rosmorduc R Hermelin R Poupon 2001 MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis Gastroenterology 120 1459 1467 (Pubitemid 32322320)
26. -/- mice: a model for low-phospholipid-associated cholelithiasis Hepatology 39 117 128 (Pubitemid 38461474)
27. R Mullenbach KJ Linton S Wiltshire N Weerasekera J Chambers E Elias CF Higgins DG Johnston MI [tmp] McCarthy C Williamson 2003 ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy J Med Genet 40 e70
28. SWC Van Mil WL Van der Woerd G Van der Brugge G van der Brugge E Sturm PL Jansen LN Bull IE van den Berg R Berger RH Houwen LW Klomp 2004 Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 Gastroenterology 127 379 384 (Pubitemid 39091885)
29. F Lammert MC Carey B Paigen 2001 Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map Gastroenterology 120 221 238 (Pubitemid 32061887)
30. O Muller C Challa J Scheibner EF Stange M Fuchs 2002 Expression of liver plasma membrane transporters in gallstone-susceptible and gallstone-resistant mice Biochem J 361 673 679 (Pubitemid 34177837)
31. C Lang Y Meier B Stieger U Beuers T Lang R Kerb GA Kullak-Ublick PJ Meier C Pauli-Magnus 2007 Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury Pharmacogenet Genomics 17 47 60 (Pubitemid 46183791)
32. Y Meier C Pauli-Magnus UM Zanger K Klein E Schaeffeler AK Nussler N Nussler M Eichelbaum PJ Meier B Stieger 2006 Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver Hepatology 44 62 74 (Pubitemid 44049139)