Liver X receptors alpha gene (NR1H3) promoter polymorphisms are associated with systemic lupus erythematosus in Koreans

Arthritis Research and Therapy

Volumn 16, Issue 3, 2014, Pages

  Jeon, Ja Young ^a   Nam, Jin Young ^a   Kim, Hyoun Ah ^a   Park, Yong Beom ^b   Bae, Sang Cheol ^c   Suh, Chang Hee ^a  

^a Ajou University School of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Hanyang University Hospital for Rheumatic Diseases   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

3 [3 [[2 CHLORO 3 (TRIFLUOROMETHYL)BENZYL](2 DIPHENYLETHYL)AMINO]PROPOXY]PHENYLACETIC ACID; LIVER X RECEPTOR ALPHA; LUCIFERASE; N (2,2,2 TRIFLUOROETHYL) N [4 (2,2,2 TRIFLUORO 1 HYDROXY 1 TRIFLUOROMETHYLETHYL)PHENYL]BENZENESULFONAMIDE; TRANSCRIPTION FACTOR GATA 3; LIVER X RECEPTOR; ORPHAN NUCLEAR RECEPTOR;

ADULT; ARTICLE; B LYMPHOCYTE; CELL PROLIFERATION; CELL PROLIFERATION ASSAY; CONTROLLED STUDY; COS 7 CELL LINE; ENZYME ACTIVITY; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE FREQUENCY; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEPATOCELLULAR CARCINOMA CELL LINE; HUMAN; KOREAN (PEOPLE); LIVER X RECEPTOR ALPHA GENE; LUCIFERASE ASSAY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; ASIAN CONTINENTAL ANCESTRY GROUP; CELL CULTURE; ETHNOLOGY; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; METABOLISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTH KOREA; YOUNG ADULT;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; B-LYMPHOCYTES; CELL PROLIFERATION; CELLS, CULTURED; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; ORPHAN NUCLEAR RECEPTORS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; REPUBLIC OF KOREA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84904057157     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar4563     Document Type: Article

References (33)

1. Tsokos GC. Systemic lupus erythematosus. N Engl J Med 2011, 365:2110-2121.
2. D'Cruz DP, Khamashta MA, Hughes GR. Systemic lupus erythematosus. Lancet 2007, 369:587-596.
3. Suh CH, Kim HA. Cytokines and their receptors as biomarkers of systemic lupus erythematosus. Expert Rev Mol Diagn 2008, 8:189-198.
4. Rhodes B, Vyse TJ. The genetics of SLE: an update in the light of genome-wide association studies. Rheumatology (Oxford) 2008, 47:1603-1611.
5. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA. Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 2009, 10:285-290.
6. Moser KL, Kelly JA, Lessard CJ, Harley JB. Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun 2009, 10:373-379.
7. Kaiser R, Criswell LA. Genetics research in systemic lupus erythematosus for clinicians: methodology, progress, and controversies. Curr Opin Rheumatol 2010, 22:119-125.
8. Rullo OJ, Tsao BP. Recent insights into the genetic basis of systemic lupus erythematosus. Ann Rheum Dis 2012, 72:ii56-ii61.
9. Glass CK, Witztum JL. Atherosclerosis. the road ahead. Cell 2001, 104:503-516.
10. Joseph SB, Bradley MN, Castrillo A, Bruhn KW, Mak PA, Pei L, Hogenesch J, O'Connell RM, Cheng G, Saez E, Miller JF, Tontonoz P. LXR-dependent gene expression is important for macrophage survival and the innate immune response. Cell 2004, 119:299-309.
11. Korf H, Vander Beken S, Romano M, Steffensen KR, Stijlemans B, Gustafsson JA, Grooten J, Huygen K. Liver X receptors contribute to the protective immune response against Mycobacterium tuberculosis in mice. J Clin Invest 2009, 119:1626-1637.
12. Bensinger SJ, Bradley MN, Joseph SB, Zelcer N, Janssen EM, Hausner MA, Shih R, Parks JS, Edwards PA, Jamieson BD, Tontonoz P. LXR signaling couples sterol metabolism to proliferation in the acquired immune response. Cell 2008, 134:97-111.
13. Cui G, Qin X, Wu L, Zhang Y, Sheng X, Yu Q, Sheng H, Xi B, Zhang JZ, Zang YQ. Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation. J Clin Invest 2011, 121:658-670.
14. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982, 25:1271-1277.
15. Jeon JY, Kim HA, Kim SH, Park HS, Suh CH. Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans. J Rheumatol 2010, 37:2251-2258.
16. Ogawa D, Stone JF, Takata Y, Blaschke F, Chu VH, Towler DA, Law RE, Hsueh WA, Bruemmer D. Liver x receptor agonists inhibit cytokine-induced osteopontin expression in macrophages through interference with activator protein-1 signaling pathways. Circ Res 2005, 96:e59-e67.
17. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
18. Hedrick PW. Gametic disequilibrium measures: proceed with caution. Genetics 1987, 117:331-341.
19. Dahlman I, Nilsson M, Jiao H, Hoffstedt J, Lindgren CM, Humphreys K, Kere J, Gustafsson JA, Arner P, Dahlman-Wright K. Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity. Pharmacogenet Genomics 2006, 16:881-889.
20. Legry V, Cottel D, Ferrieres J, Chinetti G, Deroide T, Staels B, Amouyel P, Meirhaeghe A. Association between liver X receptor alpha gene polymorphisms and risk of metabolic syndrome in French populations. Int J Obes (Lond) 2008, 32:421-428.
21. Dahlman I, Nilsson M, Gu HF, Lecoeur C, Efendic S, Ostenson CG, Brismar K, Gustafsson JA, Froguel P, Vaxillaire M, Dahlman-Wright K, Steffensen KR. Functional and genetic analysis in type 2 diabetes of liver X receptor alleles-a cohort study. BMC Med Genet 2009, 10:27.
22. Solaas K, Legry V, Retterstol K, Berg PR, Holven KB, Ferrieres J, Amouyel P, Lien S, Romeo J, Valtuena J, Widhalm K, Ruiz JR, Dallongeville J, Tonstad S, Rootwelt H, Halvorsen B, Nenseter MS, Birkeland KI, Thorsby PM, Meirhaeghe A, Nebb HI. Suggestive evidence of associations between liver X receptor beta polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe). BMC Med Genet 2010, 11:144.
23. Ketterer C, Mussig K, Machicao F, Stefan N, Fritsche A, Haring HU, Staiger H. Genetic variation within the NR1H2 gene encoding liver X receptor beta associates with insulin secretion in subjects at increased risk for type 2 diabetes. J Mol Med (Berl) 2011, 89:75-81.
24. Adighibe O, Arepalli S, Duckworth J, Hardy J, Wavrant-De Vrieze F. Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease. Neurobiol Aging 2006, 27:1431-1434.
25. Infante J, Rodriguez-Rodriguez E, Mateo I, Llorca J, Vazquez-Higuera JL, Berciano J, Combarros O. Gene-gene interaction between heme oxygenase-1 and liver X receptor-beta and Alzheimer's disease risk. Neurobiol Aging 2010, 31:710-714.
26. Andersen V, Christensen J, Ernst A, Jacobsen BA, Tjonneland A, Krarup HB, Vogel U. Polymorphisms in NF-kappaB, PXR, LXR, PPARgamma and risk of inflammatory bowel disease. World J Gastroentrol 2011, 17:197-206.
27. Schafmayer C, Tepel J, Franke A, Buch S, Lieb S, Seeger M, Lammert F, Kremer B, Folsch UR, Fandrich F, Schreiber S, Hampe J. Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease. Hepatology 2006, 44:650-657.
28. Zheng W, Flavell RA. The transcription factor GATA-3 is necessary and sufficient for Th2 cytokine gene expression in CD4 T cells. Cell 1997, 89:587-596.
29. Chan RW, Lai FM, Li EK, Tam LS, Chow KM, Li PK, Szeto CC. Imbalance of Th1/Th2 transcription factors in patients with lupus nephritis. Rheumatology (Oxford) 2006, 45:951-957.
30. Lit LC, Wong CK, Li EK, Tam LS, Lam CW, Lo YM. Elevated gene expression of Th1/Th2 associated transcription factors is correlated with disease activity in patients with systemic lupus erythematosus. J Rheumatol 2007, 34:89-96.
31. Geyeregger R, Shehata M, Zeyda M, Kiefer FW, Stuhlmeier KM, Porpaczy E, Zlabinger GJ, Jager U, Stulnig TM. Liver X receptors interfere with cytokine-induced proliferation and cell survival in normal and leukemic lymphocytes. J Leukoc Biol 2009, 86:1039-1048.
32. Rough JJ, Monroy MA, Yerrum S, Daly JM. Anti-proliferative effect of LXR agonist T0901317 in ovarian carcinoma cells. J Ovarian Res 2010, 3:13.
33. Mitro N, Vargas L, Romeo R, Koder A, Saez E. T0901317 is a potent PXR ligand: implications for the biology ascribed to LXR. FEBS Lett 2007, 581:1721-1726.