Increased Tumor Necrosis Factor (TNF)-α and Its Promoter Polymorphisms Correlate with Disease Progression and Higher Susceptibility towards Vitiligo

PLoS ONE

Volumn 7, Issue 12, 2012, Pages

  Laddha, Naresh C ^a   Dwivedi, Mitesh ^a   Begum, Rasheedunnisa ^a  

^a M S UNIVERSITY OF BARODA   (India)

Author keywords

[No Author keywords available]

Indexed keywords

TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENOTYPE; HAPLOTYPE; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PATHOGENESIS; PROMOTER REGION; RISK FACTOR; SEX DIFFERENCE; VITILIGO;

ADULT; AGE OF ONSET; DISEASE PROGRESSION; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; TUMOR NECROSIS FACTOR-ALPHA; VITILIGO;

EID: 84871430726     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0052298     Document Type: Article

References (66)

1. Taieb A, Picardo M, (2009) Vitiligo. N. Engl. J. Med. 360: 160-169.
2. Spritz RA, (2008) The genetics of generalized vitiligo. Curr. Dir. Autoimmun. 10: 244-257.
3. Das SK, Majumder PP, Chakraborty R, Majumdar TK, Haldar B, (1985) Studies on vitiligo: Epidemiological profile in Calcutta, India. Genet. Epidemiol. 2: 71-78.
4. Alkhateeb A, Fain PR, Thody A, Bennett DC, Spritz RA, (2003) Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their relatives. Pigment Cell Res. 16: 208-214.
5. Laberge G, Mailloux CM, Gowan K, Holland P, Bennett DC, et al. (2005) Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res. 18: 300-305.
6. Shajil EM, Chatterjee S, Agrawal D, Bagchi T, Begum R, (2006a) Vitiligo: Pathomechanisms and genetic polymorphism of susceptible genes. Ind. J. Exp. Biol. 44: 526-539.
7. Kemp EH, Waterman EA, Weetman AP, (2001) Immunological pathomechanisms in vitiligo. Expert. Rev. Mol. Med. 23: 1-22.
8. Rosenberg SA, (1997) Cancer vaccines based on the identification of genes encoding cancer regression antigens. Immunol. Today. 18: 175-182.
9. Spritz RA, (2011) Recent progress in the genetics of generalized vitiligo. J Genet and Genom. 38: 271-278.
10. Spritz RA, (2007) The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 20: 271-278.
11. Spritz RA, (2010) The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma. Genome Medicine. 2: 78.
12. Gupta S, Gollapudi S, (2006) Molecular mechanisms of TNF-a-induced apoptosis in 136 naive and memory T cell subsets. Autoimmun Rev. 5: 264-268.
13. Alghamdi KM, Khurrum H, Taieb A, Ezzedine K, (2012) Treatment of generalized vitiligo with anti-TNF-α Agents. J Drugs Dermatol. 11: 534-539.
14. Spriggs DR, Deutsch S, Kufe DW, (1992) Genomic structure, induction, and production of TNF-alpha. Immunol Ser. 56: 3-34.
15. Shi YY, He L, (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 15: 97-98.
16. Barrett JC, Fry B, Maller J, Dally MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 21: 263-265.
17. Faul F, Erdfelder E, Lang AG, Buchner A, (2007) G*Power 3: A flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav. Res. Methods. 39: 175-191.
18. Nordlund JJ, (1997) The epidemiology and genetics of vitiligo. Clin Dermatol. 15: 875-878.
19. Kim SM, Chung HS, Hann SK, (1998) The genetics of vitiligo in Korean patients. Int J Dermatol. 37: 908-910.
20. Shajil EM, Agrawal D, Vagadia K, Marfatia YS, Begum R, (2006b) Vitiligo: Clinical profiles in Vadodara, Gujarat. Ind. J. Dermatol. 51: 100-104.
21. Shajil EM (2007) Biochemical basis and genetic association studies of selected single nucleotide polymorphisms in catalase and glutathione peroxidase genes in vitiligo. Ph.D. thesis. The M. S. University of Baroda, Vadodara, Gujarat, India.
22. Singh A, Sharma P, Kar HK, Sharma VK, Tembhre MK, et al. (2012) HLA alleles and amino acid signatures of the peptide binding pockets of HLA molecules in Vitiligo. J Invest. Dermatol. 132: 124-134.
23. Dwivedi M, Laddha NC, Imran M, Shah BJ, Begum R, (2011) Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) in isolated vitiligo: a genotype-phenotype correlation. Pigment cell Melanoma Res. 24: 737-740.
24. Imran M, Laddha NC, Dwivedi M, Mansuri MS, Singh J, et al. (2012) Interleukin-4 genetic variants correlate with its transcript and protein levels in vitiligo patients. Brit J Dermatol. 167: 314-323.
25. Dwivedi M, Gupta K, Gulla KC, Laddha NC, Hajela K, et al. (2009) Lack of genetic association of promoter and structural variants of Mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. Brit J Dermatol. 161: 63-69.
26. Dwivedi M, Laddha NC, Shajil EM, Shah BJ, Begum R, (2008) The ACE gene I/D polymorphism is not associated with generalized Vitiligo Susceptibility in Gujarat population. Pigment cell Melanoma Res. 21: 407-408.
27. Laddha NC, Dwivedi M, Shajil EM, Prajapati H, Marfatia YS, et al. (2008) Association of PTPN22 1858C/T polymorphism with vitiligo susceptibility in Gujarat population. J Dermatol Sci. 49: 260-262.
28. Feldmann M, Brennan FM, Maini R, (1998) Cytokines in autoimmune disorders. Int Rev Immunol. 17: 217-228.
29. Moretti S, Spallanzani A, Amato L, Hautmann G, Gallerani I, et al. (2002) New insights into the pathogenesis of vitiligo: imbalance of epidermal cytokines at sites of lesions. Pigment Cell Res. 15: 87-92.
30. Locksley RM, Killeen N, Lenardo MJ, (2001) The TNF and TNF receptor superfamilies: integrating mammalian biology. Cell. 104: 487-501.
31. Wajkowicz-Kalijska A, van den Wijngaard RM, Tigges BJ, Westerhof W, Ogg GS, et al. (2003) Immunopolarization of CD4+ and CD8+ T cells to Type-1-like is associated with melanocyte loss in human vitiligo. Lab Invest. 83: 683-695.
32. Grimes PE, Morris R, Avaniss-Aghajani E, Soriano T, Meraz M, et al. (2004) Topical tacrolimus therapy for vitiligo: therapeutic responses and skin messenger RNA expression of proinflammatory cytokines. J Am Acad Dermatol. 51: 52-61.
33. Huang CL, Nordlund JJ, Boissy R, (2002) Vitiligo. A manifestation of apoptosis. Am J Clin Dermatol. 3: 301-308.
34. Yohn JJ, Critelli M, Lyons MB, Norris DA, (1990) Modulation of melanocyte intercellular adhesion molecule-1 by immune cytokines. J Invest Dermatol. 90: 233-237.
35. Al Badri AM, (1993) Abnormal expression of MHC class ll and ICAM-l by melanocytes in vitiligo. J Pathol. 169: 203-206.
36. Morelli JG, Norris DA, (1993) Influence of inflammatory mediators and cytokines on human melanocyte function. J Invest Dermatol. 100: 191-195.
37. Martinez-Esparza M, Jimenez-Cervantes C, Solano F, Lozano JA, Garcia-Borron JC, (1998) Mechanisms of melanogenesis inhibition by tumor necrosis factor-α in B16-F10 mouse melanoma cells. Eur J Biochem. 255: 139-146.
38. Whitacre CC, (2001) Sex differences in autoimmune disease. Nat. Immunol. 2: 777-780.
39. Panchanathan R, Choubey D, (2012) Murine BAFF expression is up-regulated by estrogen and interferons: Implications for sex bias in the development of autoimmunity. Mol Immunol. 53: 15-23.
40. Afshan G, Afzal N, Qureshi S, (2012) CD4+CD25(hi) regulatory T cells in healthy males and females mediate gender difference in the prevalence of autoimmune diseases. Clin Lab. 58: 567-571.
41. Sharma S, Ghosh B, Sharma SK, (2008) Association of TNF polymorphisms with sarcoidosis, its prognosis and tumour necrosis factor (TNF)-alpha levels in Asian Indians. Clin Exp Immunol. 151: 251-259.
42. Suárez A, López P, Mozo L, Gutiérrez C, (2005) Differential effect of IL10 and TNF{alpha} genotypes on determining susceptibility to discoid and systemic lupus erythematosus. Ann Rheum Dis. 64: 1605-1610.
43. Skoog T, van't Hooft FM, Kallin B, Jovinge S, Boquist S, et al. (1999) A common functional polymorphism (C->A substitution at position -863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha. Hum Mol Genet. 8: 1443-1449.
44. Fong CL, Siddiqui AH, Mark DF, (1994) Identification and characterization of a novel repressor site in the human tumor necrosis factor alpha gene. Nucleic Acids Res. 22: 1108-1114.
45. Bayley JP, de Rooij H, van den Elsen PJ, Huizinga TW, Verweij CL, (2001) Functional analysis of linker-scan mutants spanning the -376, -308, -244, and -238 polymorphic sites of the TNFalpha promoter. Cytokine. 14: 316-323.
46. Kroeger KM, Carville KS, Abraham LJ, (1997) The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription. Mol Immunol. 34: 391-399.
47. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW, (1997) Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A. 94: 3195-3199.
48. Namian AM, Shahbaz S, Salmanpoor R, Namazi MR, Dehghani F, et al. (2009) Association of interferon-gamma and tumor necrosis factor alpha polymorphisms with susceptibility to vitiligo in Iranian patients. Arch Dermatol Res. 301: 21-25.
49. Yazici AC, Erdal ME, Kaya TI, Ikizoglu G, Savasoglu K, et al. (2006) Lack of association with TNF-a-308 promoter polymorphism in patients with vitiligo. Arch Dermatol Res. 298: 46-49.
50. Kim JJ, Lee SB, Park JK, Yoo YD, (2010) TNF-alpha-induced ROS production triggering apoptosis is directly linked to Romo1 and Bcl-X(L). Cell Death Differ. 17: 1420-1434.
51. Agrawal D, Shajil EM, Marfatia YS, Begum R, (2004) Study on the antioxidant status of vitiligo patients of different age groups in Baroda. Pigment Cell Res. 17: 289-294.
52. Shajil EM, Begum R, (2006) Antioxidant status of segmental and non segmental vitiligo. Pigment Cell Res. 19: 179-180.
53. Schallreuter KU, Wood JM, Berger J, (1991) Low catalase levels in the epidermis of patients with vitiligo. J Invest Dermatol. 97: 1081-1085.
54. Elliot MJ, Mani RN, Feldmann M, (1994) Repeated therapy with monoclonal antibody to tumour necrosis factor-α in patients with rheumatoid arthiritis. Lancet. 344: 1125-1127.
55. Jacob CO, Fronek Z, Lewis GD, Koo M, Hansen JA, et al. (1990) Heritable major histocomptibility complex class 2 associated difference in production of TNF-α relevance to genetic predisposition to systemic lupus erythematosus. PNAS. 87: 1233-1237.
56. van Dullemenn HM, van Daventer SJ, Hommes DW, Bijl HA, Jansen J, et al. (1995) Treatment of Crohn's disease with anti TNF factor chimeric monoclonal antibody. Gasenterology. 109: 129-135.
57. Mc Guire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D, (1994) Variation in TNF-α promoter region associated with susceptibility to central malaria. Nature. 371: 508-510.
58. Carbera M, Shaw MA, Sharples C, Williams H, Castes M, et al. (1995) Polymorphism in TNF genes associated with mucocutaneous leishmaniasis. J.Exp.Med. 182: 1259-1264.
59. Kumar R, Goswami R, Agarwal S, Israni N, Singh SK, et al. (2007) Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India. Tissue Antigens. 69: 557-567.
60. Noble JA, Valdes AM, Lane JA, Green AE, Erlich HA, (2006) Linkage disequilibrium with predisposing DR3 haplotypes accounts for apparent effects of tumor necrosis factor and lymphotoxin-alpha polymorphisms on type 1 diabetes susceptibility. Hum. Immunol. 67: 999-1004.
61. Rahman P, Siannis F, Butt C, Farewell V, Peddle L, et al. (2006) TNFalpha polymorphisms and risk of psoriatic arthritis. Ann Rheum Dis. 65: 919-923.
62. Kamali-Sarvestani E, Ghayomi MA, Nekoee A, (2007) Association of TNF-alpha -308 G/A and IL-4-589 C/T gene promoter polymorphisms with asthma susceptibility in the south of Iran. J Investig Allergol Clin Immunol. 17: 361-366.
63. Ferguson LR, Huebner C, Petermann I, Gearry RB, Barclay ML, et al. (2008) Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk. World J Gastroenterol. 14: 4652-4661.
64. Li C, Wang G, Gao Y, Liu L, Gao T, (2007) TNF-alpha gene promoter -238G>A and -308G>A polymorphisms alter risk of psoriasis vulgaris: a meta-analysis. J Invest Dermatol. 127: 1886-1892.
65. Simmonds MJ, Heward JM, Howson JM, Foxall H, Nithiyananthan R, et al. (2004) A systematic approach to the assessment of known TNF-alpha polymorphisms in Graves' disease. Genes Immun. 5: 267-273.
66. Simon JA, Burgos-Vargas R, (2008) Vitiligo improvement in a patient with ankylosing spondylitis treated with infliximab. Dermatology. 216: 234-235.