An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4

Genes and Immunity

Volumn 13, Issue 7, 2012, Pages 536-542

  Zhao, H ^a   Yang, W ^b   Qiu, R ^a   Li, J ^a   Xin, Q ^a   Wang, X ^a   Feng, Y ^a   Shan, S ^a   Liu, Y ^a   Gong, Y ^a   Liu, Q ^a  

^a SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

causative variant; LRRC18; single nucleotide polymorphism; susceptibility gene; Systemic lupus erythematosus; WDFY4

Indexed keywords

TRANSCRIPTION FACTOR YY1;

ARTICLE; BINDING AFFINITY; BINDING SITE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA BINDING; DOWN REGULATION; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOMIC FRAGMENT; GENOTYPE; HELA CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; SYSTEMIC LUPUS ERYTHEMATOSUS; WDFY4 GENE;

CASE-CONTROL STUDIES; CHINA; DOWN-REGULATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; LUPUS ERYTHEMATOSUS, SYSTEMIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; RNA, SMALL INTERFERING; TRANSCRIPTION, GENETIC; YY1 TRANSCRIPTION FACTOR;

EID: 84867745190     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2012.33     Document Type: Article

References (22)

1. Arbuckle MR, McClain MT, Rubertone MV, Scofield RH, Dennis GJ, James JA et al. Development of autoantibodies before the clinical onset of systemic lupus ery-thematosus. N Engl J Med 2003; 349: 1526-1533.
2. Ramos-Niembro F, Alarcon-Segovia D. Familial aspects of mixed connective tissue disease (MCTD). I. Occurrence of systemic lupus erythematosus in another member in two families and aggregation of MCTD in another family. J Rheumatol 1978; 5: 433-440.
3. Loor F, Jachez B, Montecino-Rodriguez E, Klein AS, Kuntz L, Pflumio F et al. Radiation therapy of spontaneous autoimmunity: a review of mouse models. Int J Radiat Biol Relat Stud Phys Chem Med 1988; 53: 119-136.
4. Deapen D, Escalante A, Weinrib L, Horwitz D, Bachman B, Roy-Burman P et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum 1992; 35: 311-318.
5. Sestak AL, Shaver TS, Moser KL, Neas BR, Harley JB. Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 1999; 26: 1495-1499.
6. Vyse TJ, Kotzin BL. Genetic susceptibility to systemic lupus erythematosus. Annu Rev Immunol 1998; 16: 261-292.
7. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 358: 900-909.
8. Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 2009; 41: 1228-1233.
9. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL et al. Genome-wide association scan in women with systemic lupus erythema-tosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008; 40: 204-210.
10. Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet 2009; 41: 1234-1237.
11. Yang W, Shen N, Ye DQ, Liu Q, Zhang Y, Qian XX et al. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet 2010; 6: e1000841.
12. Choi JW, Park CS, Hwang M, Nam HY, Chang HS, Park SG et al. A common intronic variant of CXCR3 is functionally associated with gene expression levels and the polymorphic immune cell responses to stimuli. J Allergy Clin Immunol 2008; 122: 1119-1126, e1117.
13. Meyer KB, Maia AT, O'Reilly M, Teschendorff AE, Chin SF, Caldas C et al. Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol 2008; 6: e108.
14. Berndt JA, Kim JG, Tosic M, Kim C, Hudson LD. The transcriptional regulator Yin Yang 1 activates the myelin PLP gene. J Neurochem 2001; 77: 935-942.
15. Hines RN, Luo Z, Hopp KA, Cabacungan ET, Koukouritaki SB, McCarver DG. Genetic variability at the human FMO1 locus: significance of a basal promoter yin yang 1 element polymorphism (FMO1*6). J Pharmacol Exp Ther 2003; 306: 1210-1218.
16. Zalani S, Coppage A, Holley-Guthrie E, Kenney S. The cellular YY1 transcription factor binds a cis-acting, negatively regulating element in the Epstein-Barr virus BRLF1 promoter. J Virol 1997; 71: 3268-3274.
17. Su K, Li X, Edberg JC, Wu J, Ferguson P, Kimberly RP. A promoter haplotype of the immunoreceptor tyrosine-based inhibitory motif-bearing FcgammaRIIb alters receptor expression and associates with autoimmunity. II. Differential binding of GATA4 and Yin-Yang1 transcription factors and correlated receptor expression and function. J Immunol 2004; 172: 7192-7199.
18. Riveros C, Mellor D, Gandhi KS, McKay FC, Cox MB, Berretta R et al. A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis. PLoS One 2010; 5: e14176.
19. Alberobello AT, Congedo V, Liu H, Cochran C, Skarulis MC, Forrest D et al. An intronic SNP in the thyroid hormone receptor beta gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor beta2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone. J Transl Med 2011; 9: 144.
20. Williams HJ, Moskvina V, Smith RL, Dwyer S, Russo G, Owen MJ et al. Association between TCF4 and schizophrenia does not exert its effect by common non-synonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain. Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 781-784.
21. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997; 40: 1725.
22. Quinn EM, Hill M, Anney R, Gill M, Corvin AP, Morris DW. Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression. Bipolar Disord 2010; 12: 440-445.