Expression of humoral autoimmunity is related to androgen receptor CAG repeat length in men with systemic lupus erythematosus

Journal of Clinical Immunology

Volumn 31, Issue 4, 2011, Pages 567-573

  Tessnow, Alex H ^a   Olsen, Nancy J ^b   Kovacs, William J ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

Androgens; Autoimmunity; Genetics; Receptors

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; AUTOANTIBODY; CELL NUCLEUS ANTIGEN; EXTRACTABLE NUCLEAR ANTIGEN; EXTRACTABLE NUCLEAR ANTIGEN ANTIBODY; IMMUNOGLOBULIN G ANTIBODY; IMMUNOGLOBULIN M ANTIBODY; UNCLASSIFIED DRUG;

ANDROGEN RECEPTOR GENE; ANTIBODY BLOOD LEVEL; ARTICLE; AUTOIMMUNITY; CAG REPEAT; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; GENE; GENETIC VARIABILITY; HORMONE SENSITIVITY; HUMAN; HUMORAL IMMUNITY; MALE; PRIORITY JOURNAL; PROTEIN MICROARRAY; SYSTEMIC LUPUS ERYTHEMATOSUS;

AUTOIMMUNITY; BASE COMPOSITION; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; RECEPTORS, ANDROGEN; SIGNAL TRANSDUCTION; TRINUCLEOTIDE REPEATS;

EID: 80555135416     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9519-5     Document Type: Article

References (42)

1. Roubinian J, Talal N, Siiteri PK, Sadakian JA. Sex hormone modulation of autoimmunity in NZB/NZW mice. Arthritis Rheum. 1979;22:1162-9. (Pubitemid 10163780)
2. Roubinian JR, Papoian R, Talal N. Androgenic hormones modulate autoantibody responses and improve survival in murine lupus. J Clin Invest. 1977;59:1066-70. (Pubitemid 8131060)
3. Roubinian JR, Talal N, Greenspan JS, Goodman JR, Siiteri PK. Effect of castration and sex hormone treatment on survival, antinucleic acid antibodies, and glomerulonephritis in NZB/NZW F1 mice. J Exp Med. 1978;147:1568-83. (Pubitemid 8372952)
4. Oktenli C, Yesilova Z, Kocar IH, Musabak U, Ozata M, Inal A, et al. Study of autoimmunity in Klinefelter's syndrome and idiopathic hypogonadotropic hypogonadism. J Clin Immunol.2002;22:137-43. (Pubitemid 34596937)
5. Bizzarro A, Valentini G, Di Martino G, DaPonte A, De Bellis A, Iacono G. Influence of testosterone therapy on clinical and immunological features of autoimmune diseases associated with Klinefelter's syndrome. J Clin Endocrinol Metab. 1987;64:32-6. (Pubitemid 17015874)
6. Jimenez-Balderas FJ, Tapia-Serrano R, Fonseca ME, Arellano J, Beltran A, Yanez P, et al. High frequency of association of rheumatic/ autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction. Arthritis Res. 2001;3:362-7. (Pubitemid 33077116)
7. Kocar IH, Yesilova Z, Ozata M, Turan M, Sengul A, Ozdemir I. The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndrome. Clin Exp Immunol. 2000;121:448-52.
8. Olsen NJ, Kovacs WJ. Case report: Testosterone treatment of systemic lupus erythematosus in a patient with Klinefelter's syndrome. Am J Med Sci. 1995;310:158-60.
9. Inman RD, Jovanovic L,Markenson JA, Longcope C, Dawood MY, Lockshin MD. Systemic lupus erythematosus in men. Genetic and endocrine features. Arch Intern Med. 1982;142:1813-5. (Pubitemid 12036215)
10. MillerMH,UrowitzMB,Gladman DD, KillingerDW. Systemic lupus erythematosus in males. Medicine (Baltimore). 1983;62:327-34. (Pubitemid 13021487)
11. Mok CC, Lau CS. Profile of sex hormones in male patients with systemic lupus erythematosus. Lupus. 2000;9:252-7. (Pubitemid 30261066)
12. Sequeira JF, Keser G, Greenstein B, Wheeler MJ, Duarte PC, Khamashta MA, et al. Systemic lupus erythematosus: Sex hormones in male patients. Lupus. 1993;2:315-7.
13. Canale D, Caglieresi C, Moschini C, Liberati CD, Macchia E, Pinchera A, et al. Androgen receptor polymorphism (CAG repeats) and androgenicity. Clin Endocrinol (Oxf). 2005;63:356-61. (Pubitemid 41233456)
14. Zitzmann M. Mechanisms of disease: Pharmacogenetics of testosterone therapy in hypogonadal men. Nat Clin Pract Urol.2007;4:161-6. (Pubitemid 46416281)
15. McPhaulMJ. Androgen receptormutations and androgen insensitivity. Mol Cell Endocrinol. 2002;198:61-7.
16. McPhaul MJ. Molecular defects of the androgen receptor. Recent Prog Horm Res. 2002;57:181-94.
17. Tilley WD, Marcelli M, Wilson JD, McPhaul MJ. Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci USA. 1989;86:327-31. (Pubitemid 19036379)
18. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352:77-9. (Pubitemid 21896702)
19. Beilin J, Ball EM, Favaloro JM, Zajac JD. Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: Specificity in prostate and non-prostate cell lines. J Mol Endocrinol. 2000;25:85-96. (Pubitemid 30617076)
20. Irvine RA, Ma H, Yu MC, Ross RK, Stallcup MR, Coetzee GA. Inhibition of p160-mediated coactivation with increasing androgen receptor polyglutamine length. Hum Mol Genet. 2000;9:267-74. (Pubitemid 30052750)
21. Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L, Yong EL. Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J Clin Endocrinol Metab. 1987;82:3777-82.
22. Chamberlain NL, Driver ED, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res. 1994;22:3181-6.
23. Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab. 2005;90:5041-6. (Pubitemid 41262252)
24. Lapauw B, Goemaere S, Crabbe P, Kaufman JM, Ruige JB. Is the effect of testosterone on body composition modulated by the androgen receptor gene CAG repeat polymorphism in elderly men? Eur J Endocrinol. 2007;156:395-401. (Pubitemid 46561912)
25. Zitzmann M, Brune M, Kornmann B, Gromoll J, von Eckardstein S, von Eckardstein A, et al. The CAG repeat polymorphism in the AR gene affects high density lipoprotein cholesterol and arterial vasoreactivity. J Clin Endocrinol Metab. 2001;86:4867-73. (Pubitemid 33020534)
26. Zitzmann M, Nieschlag E. Androgen receptor gene CAG repeat length and body mass index modulate the safety of long-term intramuscular testosterone undecanoate therapy in hypogonadal men. J Clin Endocrinol Metab. 2007;92:3844-53. (Pubitemid 47607632)
27. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1982;25:1271-7. (Pubitemid 13221242)
28. Wandstrat AE, Carr-Johnson F, Branch V, Gray H, Fairhurst AM, Reimold A, et al. Autoantibody profiling to identify individuals at risk for systemic lupus erythematosus. J Autoimmun. 2006;27:153-60. (Pubitemid 46048594)
29. Li QZ, Zhou J, Wandstrat AE, Carr-Johnson F, Branch V, Karp DR, et al. Protein array autoantibody profiles for insights into systemic lupus erythematosus and incomplete lupus syndromes. Clin Exp Immunol. 2007;147:60-70. (Pubitemid 44915556)
30. Li QZ, Xie C, Wu T, Mackay M, Aranow C, Putterman C, et al. Identification of autoantibody clusters that best predict lupus disease activity using glomerular proteome arrays. J Clin Invest.2006;115:3428-39. (Pubitemid 43121831)
31. Cohn DA. Sensitivity to androgen. A possible factor in sex differences in the immune response. Clin Exp Immunol.1979;38:218-27. (Pubitemid 10196187)
32. Gladman DD, Ibanez D, Urowitz MB. Systemic lupus erythematosus disease activity index 2000. J Rheumatol.2002;29:288-91. (Pubitemid 34118775)
33. Bombardier C, Gladman DD, Urowitz MB, Caron D, Chang CH. Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum. 1992;35:630-40.
34. Gladman DD, Urowitz MB, Goldsmith CH, Fortin P, Ginzler E, Gordon C, et al. The reliability of the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index in patients with systemic lupus erythematosus. Arthritis Rheum. 1997;40:809-13. (Pubitemid 27199995)
35. Buchanan G, Yang M, Cheong A, Harris JM, Irvine RA, Lambert PF, et al. Structural and functional consequences of glutamine tract variation in the androgen receptor. Hum Mol Genet.2004;13:1677-92. (Pubitemid 39173438)
36. Altuwaijri S, Chuang KH, Lai KP, Lai JJ, Lin HY, Young FM, et al. Susceptibility to autoimmunity and B cell resistance to apoptosis in mice lacking androgen receptor in B cells. Mol Endocrinol. 2009;23:444-53.
37. Honjo T, Kinoshita K, Muramatsu M. Molecular mechanism of class switch recombination: Linkage with somatic hypermutation. Annu Rev Immunol. 2002;20:165-96. (Pubitemid 34293423)
38. Pauklin S, Sernandez IV, Bachmann G, Ramiro AR, Petersen-Mahrt SK. Estrogen directly activates AID transcription and function. J Exp Med. 2009;206:99-111.
39. Pauklin S, Petersen-Mahrt SK. Progesterone inhibits activationinduced deaminase by binding to the promoter. J Immunol.2009;183:1238-44.
40. Mai T, Zan H, Zhang J, Hawkins JS, Xu Z, Casali P. Estrogen receptors bind to and activate the HOXC4/HoxC4 promoter to potentiate HoxC4-mediated activation-induced cytosine deaminase induction, immunoglobulin class switch DNA recombination, and somatic hypermutation. J Biol Chem. 2010;285:37797-810.
41. Park SR, Zan H, Pal Z, Zhang J, Al-Qahtani A, Pone EJ, et al. HoxC4 binds to the promoter of the cytidine deaminase AID gene to induce AID expression, class-switch DNA recombination and somatic hypermutation. Nat Immunol. 2009;10:540-50.
42. Olsen NJ, Gu X, Kovacs WJ. Bone marrow stromal cells mediate androgenic suppression of B lymphocyte development. J Clin Invest. 2001;108:1697-704. (Pubitemid 33144879)