Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes

Genes and Immunity

Volumn 13, Issue 4, 2012, Pages 328-335

  Hirschfield, G M ^a,b   Xie, G ^c   Lu, E ^d   Sun, Y ^c   Juran, B D ^e   Chellappa, V ^f   Coltescu, C ^a   Mason, A L ^g   Milkiewicz, P ^h   Myers, R P ⁱ   Odin, J A ^j   Luketic, V A ^k   Bacon, B ^l   Bodenheimer, H ^m   Liakina, V ⁿ   Vincent, C ^o   Levy, C ^p   Pillai, S ^f   Lazaridis, K N ^e   Amos, C I ^d   Siminovitch, K A ^b,c,q   more..

^a TORONTO WESTERN HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^e MAYO CLINIC   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF ALBERTA   (Canada)

^h POMERANIAN MEDICAL UNIVERSITY   (Poland)

ⁱ UNIVERSITY OF CALGARY   (Canada)

^j MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^k VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^l SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

ⁿ VILNIUS UNIVERSITY   (Lithuania)

^o UNIVERSITY OF MONTREAL   (Canada)

^p UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^q UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

Autoimmunity; fine mapping; primary biliary cirrhosis; sequence analysis

Indexed keywords

C TYPE LECTIN DOMAIN FAMILY 16 MEMBER A PROTEIN; PROTEIN; SIALIC ACID ACETYLESTERASE; SPI B PROTEIN; SUPPRESSOR OF CYTOKINE SIGNALING 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOIMMUNITY; CONTROLLED STUDY; EXON; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ACETYLESTERASE; ALLELES; CASE-CONTROL STUDIES; CHROMOSOME MAPPING; DNA-BINDING PROTEINS; ENZYME ASSAYS; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LECTINS, C-TYPE; LIVER CIRRHOSIS, BILIARY; LOGISTIC MODELS; MONOSACCHARIDE TRANSPORT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS; TRANSCRIPTION FACTORS;

EID: 84862783975     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2011.89     Document Type: Article

References (25)

1. Lindor KD, Gershwin ME, Poupon R, Kaplan M, Bergasa NV, Heathcote EJ. Primary biliary cirrhosis. Hepatology 2009; 50: 291-308.
2. Hirschfield GM, Heathcote EJ, Gershwin ME. Pathogenesis of cholestatic liver disease and therapeutic approaches. Gastroenterology 2010; 139: 1481-1496.
3. Hirschfield GM, Gershwin ME. Primary biliary cirrhosis: one disease with many faces. Isr Med Assoc J 2011; 13: 55-59.
4. Hirschfield GM, Invernizzi P. Progress in the genetics of primary biliary cirrhosis. Semin Liver Dis 2011; 31: 147-156.
5. Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Gu X et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 2009; 360: 2544-2555.
6. Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C et al. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nat Genet 2010; 42: 655-657.
7. Liu X, Invernizzi P, Lu Y, Kosoy R, Bianchi I, Podda M et al. Genome-wide metaanalyses identify three loci associated with primary biliary cirrhosis. Nat Genet 2010; 42: 658-660.
8. Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS, Shin SY et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet 2011; 43: 329-332.
9. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007; 448: 591-594. (Pubitemid 47206935)
10. Palmer DC, Restifo NP. Suppressors of cytokine signaling (SOCS) in T cell differentiation, maturation, and function. Trends Immunol 2009; 30: 592-602.
11. Ramanathan S, Dubois S, Gagnon J, Leblanc C, Mariathasan S, Ferbeyre G et al. Regulation of cytokine-driven functional differentiation of CD8T cells by suppressor of cytokine signaling 1 controls autoimmunity and preserves their proliferative capacity toward foreign antigens. J Immunol 2010; 185: 357-366.
12. Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A et al. Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 2010; 42: 295-302.
13. Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl JMed 2007; 357: 851-862. (Pubitemid 47347319)
14. Ferreira RC, Pan-Hammarstrom Q, Graham RR, Gateva V, Fontan G, Lee AT et al. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Nat Genet 2010; 42: 777-780.
15. Zuvich RL, Bush WS, McCauley JL, Beecham AH, De Jager PL, Ivinson AJ et al. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: Independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. Hum Mol Genet 2011; 20: 3517-3524.
16. Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J et al. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature 2010; 466: 243-247.
17. Cariappa A, Takematsu H, Liu H, Diaz S, Haider K, Boboila C et al. B cell antigen receptor signal strength and peripheral B cell development are regulated by a 9-O-acetyl sialic acid esterase. J Exp Med 2009; 206: 125-138.
18. Szymanski K, Skorka A, Szypowska A, Bednarczuk T, Ploski R. Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population. Tissue Antigens 2011; 78: 214-216.
19. Fujimoto M, Naka T. SOCS1, a negative regulator of cytokine signals and TLR responses, in human liver diseases. Gastroenterol Res Pract 2010 (doi:10.1155/2010/470468).
20. Alexander WS, Starr R, Fenner JE, Scott CL, Handman E, Sprigg NS et al. SOCS1 is a critical inhibitor of interferon gamma signaling and prevents the potentially fatal neonatal actions of this cytokine. Cell 1999; 98: 597-608. (Pubitemid 29418951)
21. Marine JC, Topham DJ, McKay C, Wang D, Parganas E, Stravopodis D et al. SOCS1 deficiency causes a lymphocyte-dependent perinatal lethality. Cell 1999; 98: 609-616. (Pubitemid 29418952)
22. Torisu T, Nakaya M, Watanabe S, Hashimoto M, Yoshida H, Chinen T et al. Suppressor of cytokine signaling 1 protects mice against concanavalin Ainduced hepatitis by inhibiting apoptosis. Hepatology 2008; 47: 1644-1654. (Pubitemid 351702747)
23. Tanaka K, Ichiyama K, Hashimoto M, Yoshida H, Takimoto T, Takaesu G et al. Loss of suppressor of cytokine signaling 1 in helper T cells leads to defective Th17 differentiation by enhancing antagonistic effects of IFN-gamma on STAT3 and Smads. J Immunol 2008; 180: 3746-3756.
24. DeKoter RP, Geadah M, Khoosal S, Xu LS, Thillainadesan G, Torchia J et al. Regulation of follicular B cell differentiation by the related E26 transformation-specific transcription factors PU.1, Spi-B, and Spi-C. J Immunol 2010; 185: 7374-7384.
25. Nagasawa M, Schmidlin H, Hazekamp MG, Schotte R, Blom B. Development of human plasmacytoid dendritic cells depends on the combined action of the basic helix-loop-helix factor E2-2 and the Ets factor Spi-B. Eur J Immunol 2008; 38: 2389-2400.