Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Brønstad, Ingeborg ^a   Wolff, Anette S B ^a   Løvås, Kristian ^a,b   Knappskog, Per M ^a,b   Husebye, Eystein S ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; GLUCURONOSYLTRANSFERASE; GLUCURONOSYLTRANSFERASE 2B28; PROTEIN ADAM3A; UNCLASSIFIED DRUG; ADAM3A PROTEIN, HUMAN; UDP GLUCURONOSYLTRANSFERASE, UGT2B28; UDP-GLUCURONOSYLTRANSFERASE, UGT2B28;

ADDISON DISEASE; ADOLESCENT; ADULT; AGED; ARTICLE; AUTOIMMUNE DISEASE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DOSAGE; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; QUALITY CONTROL; REAL TIME POLYMERASE CHAIN REACTION; DNA MICROARRAY; GENETIC ASSOCIATION; GENETICS; HUMAN GENOME; MIDDLE AGED;

ADAM PROTEINS; ADDISON DISEASE; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DOSAGE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 80051801926     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-111     Document Type: Article

References (32)

1. Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med 2009, 265(5):514-529. 10.1111/j.1365-2796.2009.02090.x, 19382991.
2. Erichsen MM, Lovas K, Skinningsrud B, Wolff AB, Undlien DE, Svartberg J, Fougner KJ, Berg TJ, Bollerslev J, Mella B, et al. Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry. J Clin Endocrinol Metab 2009, 94(12):4882-4890. 10.1210/jc.2009-1368, 19858318.
3. Myhre AG, Undlien DE, Lovas K, Uhlving S, Nedrebo BG, Fougner KJ, Trovik T, Sorheim JI, Husebye ES. Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical features. J Clin Endocrinol Metab 2002, 87(2):618-623. 10.1210/jc.87.2.618, 11836294.
4. Park YS, Sanjeevi CB, Robles D, Yu L, Rewers M, Gottlieb PA, Fain P, Eisenbarth GS. Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease. Tissue Antigens 2002, 60(2):155-163. 10.1034/j.1399-0039.2002.600206.x, 12392510.
5. Gambelunghe G, Falorni A, Ghaderi M, Laureti S, Tortoioli C, Santeusanio F, Brunetti P, Sanjeevi CB. Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease. J Clin Endocrinol Metab 1999, 84(10):3701-3707. 10.1210/jc.84.10.3701, 10523017.
6. Blomhoff A, Lie BA, Kemp EH, Weetman AP, Akselsen HE, Myhre AG, Husebye ES, Undlien DE. Polymorphisms in the CTLA4 gene region confer susceptibility to Addison's disease. J Clin Endocrinol Metab 2004,
7. Skinningsrud B, Husebye ES, Gervin K, Lovas K, Blomhoff A, Wolff AB, Kemp EH, Egeland T, Undlien DE. Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. Eur J Hum Genet 2008, 16(8):977-982. 10.1038/ejhg.2008.33, 18301444.
8. Ghaderi M, Gambelunghe G, Tortoioli C, Brozzetti A, Jatta K, Gharizadeh B, De Bellis A, Pecori Giraldi F, Terzolo M, Betterle C, et al. MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency. J Clin Endocrinol Metab 2006, 91(10):4107-4111. 10.1210/jc.2006-0855, 16849401.
9. Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Wolff AB, Lovas K, Egeland T, Undlien DE. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. J Clin Endocrinol Metab 2008, 93(9):3310-3317.
10. Mitchell AL, Cordell HJ, Soemedi R, Owen K, Skinningsrud B, Wolff AB, Ericksen M, Undlien D, Husebye E, Pearce SH. Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility. J Clin Endocrinol Metab 2009, 94(12):5139-5145. 10.1210/jc.2009-1404, 19850680.
11. Magitta NF, Boe Wolff AS, Johansson S, Skinningsrud B, Lie BA, Myhr KM, Undlien DE, Joner G, Njolstad PR, Kvien TK, et al. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes Immun 2009, 10(2):120-124. 10.1038/gene.2008.85, 18946481.
12. Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007, 39(6):721-723. 10.1038/ng2046, 2742197, 17529978.
13. Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 2008, 111(3):1029-1038.
14. Ptacek T, Li X, Kelley JM, Edberg JC. Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. Cytogenet Genome Res 2008, 123(1-4):142-147. 10.1159/000184701, 2826785, 19287148.
15. Mamtani M, Rovin B, Brey R, Camargo JF, Kulkarni H, Herrera M, Correa P, Holliday S, Anaya JM, Ahuja SK. CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus. Ann Rheum Dis 2008, 67(8):1076-1083. 10.1136/ard.2007.078048, 17971457.
16. McKinney C, Merriman ME, Chapman PT, Gow PJ, Harrison AA, Highton J, Jones PB, McLean L, O'Donnell JL, Pokorny V, et al. Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis 2008, 67(3):409-413.
17. Grayson BL, Smith ME, Thomas JW, Wang L, Dexheimer P, Jeffrey J, Fain PR, Nanduri P, Eisenbarth GS, Aune TM. Genome-wide analysis of copy number variation in type 1 diabetes. PLoS One 2010, 5(11):e15393. 10.1371/journal.pone.0015393, 2981564, 21085585.
18. The Database of Genomic Variants (DGV). , http://projects.tcag.ca/variation/
19. Parajes S, Quinterio C, Dominguez F, Loidi L. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency. Clin Chem 2007, 53(9):1577-1584. 10.1373/clinchem.2007.087361, 17634211.
20. Levesque E, Turgeon D, Carrier JS, Montminy V, Beaulieu M, Belanger A. Isolation and characterization of the UGT2B28 cDNA encoding a novel human steroid conjugating UDP-glucuronosyltransferase. Biochemistry 2001, 40(13):3869-3881. 10.1021/bi002607y, 11300766.
21. Menard V, Eap O, Harvey M, Guillemette C, Levesque E. Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphism. Hum Mutat 2009, 30(9):1310-1319. 10.1002/humu.21054, 19572376.
22. Gossens K, Naus S, Hollander GA, Ziltener HJ. Deficiency of the metalloproteinase-disintegrin ADAM8 is associated with thymic hyper-cellularity. PLoS One 2010, 5(9):e12766. 10.1371/journal.pone.0012766, 2939894, 20856819.
23. Tian L, Wu X, Chi C, Han M, Xu T, Zhuang Y. ADAM10 is essential for proteolytic activation of Notch during thymocyte development. Int Immunol 2008, 20(9):1181-1187. 10.1093/intimm/dxn076, 18635581.
24. Primakoff P, Myles DG. The ADAM gene family: surface proteins with adhesion and protease activity. Trends Genet 2000, 16(2):83-87. 10.1016/S0168-9525(99)01926-5, 10652535.
25. Yang ZF, Ho DW, Lau CK, Lam CT, Lum CT, Poon RT, Fan ST. Allograft inflammatory factor-1 (AIF-1) is crucial for the survival and pro-inflammatory activity of macrophages. Int Immunol 2005, 17(11):1391-1397. 10.1093/intimm/dxh316, 16157606.
26. Onengut-Gumuscu S, Ewens KG, Spielman RS, Concannon P. A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 2004, 5(8):678-680. 10.1038/sj.gene.6364138, 15526003.
27. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004, 36(4):337-338. 10.1038/ng1323, 15004560.
28. Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004, 53(11):3020-3023. 10.2337/diabetes.53.11.3020, 15504986.
29. Klein W, Tromm A, Folwaczny C, Hagedorn M, Duerig N, Epplen JT, Schmiegel WH, Griga T. A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene. Int J Colorectal Dis 2004, 19(2):153-156. 10.1007/s00384-003-0531-y, 13680285.
30. Miterski B, Bohringer S, Klein W, Sindern E, Haupts M, Schimrigk S, Epplen JT. Inhibitors in the NFkappaB cascade comprise prime candidate genes predisposing to multiple sclerosis, especially in selected combinations. Genes Immun 2002, 3(4):211-219. 10.1038/sj.gene.6363846, 12058256.
31. Hegazy DM, O'Reilly DA, Yang BM, Hodgkinson AD, Millward BA, Demaine AG. NFkappaB polymorphisms and susceptibility to type 1 diabetes. Genes Immun 2001, 2(6):304-308. 10.1038/sj.gene.6363776, 11607785.
32. Jiang Y, Oliver P, Davies KE, Platt N. Identification and characterization of murine SCARA5, a novel class A scavenger receptor that is expressed by populations of epithelial cells. J Biol Chem 2006, 281(17):11834-11845. 10.1074/jbc.M507599200, 16407294.