Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP

Journal of Investigative Dermatology

Volumn 131, Issue 2, 2011, Pages 371-381

  Birlea, Stanca A ^a   Jin, Ying ^a,b   Bennett, Dorothy C ^c   Herbstman, Deborah M ^d   Wallace, Margaret R ^d   McCormack, Wayne T ^d   Kemp, E Helen ^e   Gawkrodger, David J ^f   Weetman, Anthony P ^e   Picardo, Mauro ^g   Leone, Giovanni ^h   Taïeb, Alain ^h   Jouary, Thomas ^h   Ezzedine, Khaled ^h   Van Geel, Nanja ⁱ   Lambert, Jo ⁱ   Overbeck, Andreas ^j   Fain, Pamela R ^a,b   Spritz, Richard A ^a,b  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b Children's Hospital Colorado   (United States)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

^f ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^g SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^h HÔPITAL SAINT ANDRÉ   (France)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

^j Lumiderm   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOL METHYLTRANSFERASE; CD4 ANTIGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FAS ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; STAT4 PROTEIN; THYMIC STROMAL LYMPHOPOIETIN; TRANSCRIPTION FACTOR FOXP3; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; TUMOR NECROSIS FACTOR; X BOX BINDING PROTEIN 1;

AIRE GENE; ARTICLE; AUTOIMMUNE DISEASE; C12ORF10 GENE; CAT GENE; CLEC11A GENE; CONTROLLED STUDY; DDR1 GENE; EDN1 GENE; ESR1 GENE; FBXO11 MSH6 GENE; FOXD3 GENE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENOME ANALYSIS; GSTM1 GENE; GSTT1 GENE; HUMAN; IL1RN GENE; KITLG GENE; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MBL2 GENE; META ANALYSIS; NFE2L2 GENE; PDGFRA KIT GENE; PRIORITY JOURNAL; PTGS2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TAP1 PSMB8 GENE; TSLP GENE; TXNDC5 GENE; UVRAG GENE; VDR GENE; VITILIGO;

EID: 78651400849     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.337     Document Type: Article

References (71)

1. Abanmi A, Al Harthi F, Zouman A et al. (2008) Association of Interleukin-10 gene promoter polymorphisms in Saudi patients with vitiligo. Dis Markers 24:51-7
2. Abdollahi MR, Huang S, Rodriguez S et al. (2008) Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). Dis Markers 24:11-7
3. Akhtar S, Gavalas NG, Gawkrodger DJ et al. (2005) An insertion/deletion polymorphism in the gene encoding angiotensin converting enzyme is not associated with generalized vitiligo in an English population. Arch Dermatol Res 297:94-8
4. Alkhateeb A, Fain PR, Spritz RA (2005) Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol 125:388-91
5. Alkhateeb A, Fain PR, Thody A et al. (2003) Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res 16:208-14
6. Alkhateeb A, Stetler GL, Old W et al. (2002) Mapping of an autoimmunity susceptibility locus(AIS1) to chromosome 1p31.3-p32.2. Hum Mol Genet 11:661-6
7. Barrett JC, Fry B, Maller J et al. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-5
8. Birlea S, Birlea M, Cimponeriu D et al. (2006) Autoimmune diseases and vitamin D receptor Apa-I polymorphism are associated with vitiligo in a small inbred Romanian community. Acta Derm Venereol 86:209-14
9. Birlea SA, Laberge GS, Procopciuc LM et al. (2009) CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. Pigment Cell Melanoma Res 22:230-4
10. Birlea SA, Spritz RA, Norris DA (2010) Vitiligo. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ (eds) Fitzpatrick's Dermatology in General Medicine, 7th edn. McGraw-Hill: New York
11. Blomhoff A, Kemp EH, Gawkrodger DJ et al. (2005) CTLA4 polymorphisms are associated with vitiligo in patients with concomitant autoimmune diseases. Pigment Cell Res 18:55-8
12. Casp CB, She JX, McCormack WT (2002) Genetic association of the catalase gene (CAT) with vitiligo susceptibility. Pigment Cell Res 15:62-6
13. Casp CB, She JX, McCormack WT (2003) Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo. Genes Immun 4:492-9
14. Chen JJ, Huang W, Gui JP et al. (2005) A novel linkage to generalized vitiligo on 4q13-q21 identified in a genome-wide linkage analysis of Chinese families. Am J Hum Genet 76:1057-65
15. Cheong KA, Chae SC, Kim YS et al. (2009) Association of thymic stromal lymphopoietin gene 847C4T polymorphism in generalized vitiligo. Exp Dermatol 18:1073-5
16. Cordell HJ, Clayton DG (2002) A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes. Am J Hum Genet 70:124-41
17. Deeba F, Syed R, Quareen J et al. (2010) CTLA-4 A49G gene polymorphism is not associated with vitiligo in South Indian population. Indian J Dermatol 55:29-32
18. Dwivedi M, Gupta K, Gulla KC et al. (2009) Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. Br J Dermatol 161:63-9
19. Dwivedi M, Laddha NC, Shajil EM et al. (2008) The ACE gene I/ D polymorphism is not associated with generalized vitiligo susceptibility in Gujarat population. Pigment Cell Melanoma Res 21:407-8
20. Em S, Laddha NC, Chatterjee S et al. (2007) Association of catalase T/C exon 9 and glutathione peroxidase codon 200 polymorphisms in relation to their activities and oxidative stress with vitiligo susceptibility in Gujarat population. Pigment Cell Res 20:405-7
21. Fain PR, Gowan K, LaBerge GS et al. (2003) A genome-wide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. Am J Hum Genet 72:1560-4
22. Freedman ML, Reich D, Penney KL et al. (2004) Assessing the impact of population stratification on genetic association studies. Nat Genet 36:388-93
23. Gavalas NG, Akhtar S, Gawkrodger DJ et al. (2006) Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo. Biochem Biophys Res Commun 345:1586-91
24. Guan CP, Zhou MN, Xu AE et al. (2008) The susceptibility to vitiligo is associated with NF-E2-related factor2 (Nrf2) gene polymorphisms: a study on Chinese Han population. Exp Dermatol 17:1059-62
25. Hirschhorn JN, Lohmueller K, Byrne E et al. (2002) A comprehensive review of genetic association studies. Genet Med 4:45-60
26. Hu K, Yang P, Jiang Z et al. (2010) STAT4 polymorphism in a Chinese Han population with Vogt-Koyanagi-Harada syndrome and Behçet's disease. Hum Immunol 71:723-6
27. Hutyrová B, Pantelidis P, Drábek J et al. (2002) Interleukin-1 gene cluster polymorphisms in sarcoidosis and idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 165:148-51
28. Itirli G, PehliVan M, Alper S et al. (2005) Exon-3 polymorphism of CTLA-4 gene in Turkish patients with vitiligo. J Dermatol Sci 38:225-7
29. Jeong KH, Shin MK, Uhm YK et al. (2010a) Association of TXNDC5 gene polymorphisms and susceptibility to nonsegmental vitiligo in the Korean population. Br J Dermatol 162:759-64
30. Jeong TJ, Shin MK, Uhm YK et al. (2010b) Association of UVRAG polymorphisms with susceptibility to non-segmental vitiligo in a Korean sample. Exp Dermatol 19:e323-5
31. Jin Y, Bennett DC, Amadi-Myers A et al. (2007) Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE. Pigment Cell Res 20:402-4
32. Jin Y, Birlea SA, Fain PR et al. (2010a) Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. New Engl J Med 362:1686-97
33. Jin Y, Birlea SA, Fain PR et al. (2010b) Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet 42:576-8
34. Jin SY, Park HH, Li GZ et al. (2004a) Association of estrogen receptor 1 intron 1 C/T polymorphism in Korean vitiligo patients. J Dermatol Sci 35:181-6
35. Jin SY, Park HH, Li GZ et al. (2004b) Association of angiotensin converting enzyme gene I/D polymorphism of vitiligo in Korean population. Pigment Cell Res 17:84-6
36. Kemp EH, Ajjan RA, Waterman EA et al. (1999) Analysis of a microsatellite polymorphism of the cytotoxic T-lymphocyte antigen-4 gene in patients with vitiligo. Br J Dermatol 140:73-8
37. Kim HJ, Choi CP, Uhm YK etal. (2007) The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population. Exp Dermatol 16:561-6
38. Kim HJ, Uhm YK, Yun JY etal. (2010) Association between polymorphisms of discoidin domain receptor tyrosine kinase 1 (DDR1) and non-segmental vitiligo in the Korean population. Eur J Dermatol 20:231-2
39. Kim S, Hagemann A, DeMichele A (2009) Immuno-modulatory gene polymorphisms and outcome in breast and ovarian cancer. Immunol Invest 38:324-40
40. Kristiansen OP, Karlsen AE, Larsen ZM et al. (2004) Identification of a type 1 diabetes- associated CD4 promoter haplotype with high constitutive activity. Scand J Immunol 59:582-91
41. LaBerge G, Mailloux CM, Gowan K et al. (2005) Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res 18:300-5
42. LaBerge GS, Bennett DC, Fain PR et al. (2008) PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol 28:1757-62
43. Lan CC, Ko YC, Tu HP et al. (2009) Association study between keratinocyte-derived growth factor gene polymorphisms and susceptibility to vitiligo vulgaris in a Taiwanese population: potential involvement of stem cell factor. Br J Dermatol 160:1180-7
44. Le Poole IC, Sarangarajan R, Zhao Y et al. (2001) "VIT1" a novel gene associated with vitiligo. Pigment Cell Res 14:475-84
45. Li K, Li C, Gao L etal. (2009) Afunctional single-nucleotide polymorphism in the catechol-O-methyltransferase gene alter vitiligo risk in a Chinese population. Arch Dermatol Res 301:681-7
46. Li M, Gao Y, Li C etal. (2009) Association of COX2 functional polymorphisms and the risk of vitiligo in Chinese populations. J Dermatol Sci 53: 176-81
47. Li M, Sun D, Li C et al. (2008) Functional polymorphisms of the FAS gene associated with risk of vitiligo in Chinese populations: a case-control analysis. J Invest Dermatol 128:2820-4
48. Li Y, Ding J, Abecasis GR et al. (2006) Rapid haplotype reconstruction and missing genotype inference. Am J Hum Genet 79:S2290
49. Liang Y, Yang S, Zhou Y etal. (2007) Evidence for two susceptibility loci on chromasomes 22q12 and 6p21-p22 in chinese generalized vitiligo families. J Invest Dermatol 127:2552-7
50. Liu L, Li C, Gao J et al. (2009) Genetic polymorphisms of glutathione S-transferase and risk of vitiligo in the Chinese population. J Invest Dermatol 12:2646-52
51. Liu L, Li C, Gao J et al. (2010) Promoter variant in the catalase gene is associated with vitiligo in Chinese people. J Invest Dermatol 130:2647-53
52. Namian AM, Shahbaz S, Salmanpoor R et al. (2009) Association of interferon-gamma and tumor necrosis factor alpha polymorphisms with susceptibility to vitiligo in Iranian patients. Arch Dermatol Res 301:21-5
53. Onay H, PehliVan M, Alper S et al. (2007) Might there be a link between mannose binding lectin and vitiligo? Eur J Dermatol 17:146-8
54. Park HH, Ha E, Uhm YK et al. (2006) Association study between catalase gene polymorphisms and the susceptibility to vitiligo in Korean population. Exp Dermatol 15:377-80
55. PehliVan S, Ozkinay F, Alper S et al. (2009) Association between IL4 (-590) ACE (I)/(D) CCR5 (Delta32) CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo. Eur J Dermatol 19:126-8
56. Philips MA, Kingo K, Karelson M et al. (2010) Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1. BMC Med Genet 11:56
57. Purcell S, Cherny SS, Sham PC (2003) Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-50
58. Purcell S, Neale B, Todd-Brown K et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-75
59. Quan C, Ren YQ, Xiang LH et al. (2010) Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet 42:614-8
60. Rahner N, Höefler G, Högenauer C et al. (2008) Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer vitiligo and systemic lupus erythematosus. Am J Med Genet A 146A:1314-9
61. Ren Y, Yang S, Xu S et al. (2009) Genetic variation of promoter sequence modulates XBP1 expression and genetic risk for vitiligo. PLoS Genet 5:e1000523
62. Silva De Castro CC, do Nascimento LM, Walker G et al. (2010) Genetic variants of the DDR1 gene are associated with vitiligo in two independent Brazilian population samples. J Invest Dermatol 130:1813-8
63. Spritz RA, Gowan K, Bennett DC et al. (2004) Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3) confirmation of SLEV1 on chromosome 17 and their roles in an autoimmune diathesis. Am J Hum Genet 74:188-91
64. Spritz RA (2010) Genetics. In: Vitiligo (Picardo M, Taieb A, eds), Heidelberg: Springer-Verlag, pp 155-62
65. Tazi-Ahnini R, McDonagh AJ, Wengraf DA et al. (2008) The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. Br J Dermatol 159:591-6
66. Uhm YK, Yoon SH, Kang IJ et al. (2007) Association of glutathione S-transferase gene polymorphisms (GSTM1 and GSTT1) of vitiligo in Korean population. Life Sci 81:223-7
67. Yazici AC, Erdal ME, Kaya TI et al. (2006) Lack of association with TNF-alpha-308 promoter polymorphism in patients with vitiligo. Arch Dermatol Res 298:46-9
68. Yun JY, Uhm YK, Kim HJ et al. (2010) Transforming growth factor beta receptor II (TGFBR2) polymorphisms and the association with nonsegmental vitiligo in the Korean population. Int J Immunogenet 37:289-91
69. Xu S, Zhou Y, Yang S et al. (2010) Platelet-derived growth factor receptor alpha gene mutations in vitiligo vulgaris. Acta Derm Venereol 90:131-5
70. Zamani M, Tabatabaiefar MA, Mosayyebi S et al. (2009) Possible association of the CD4 gene polymorphism with vitiligo in an Iranian population. Clin Exp Dermatol 35:521-4
71. Zheng G, Joo J, Zhang C et al. (2007) Testing association for markers on the X chromosome. Genet Epidemiol 31:834-43