Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset

Journal of Investigative Dermatology

Volumn 131, Issue 6, 2011, Pages 1308-1312

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

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

^b ST GEORGE S HOSPITAL   (United Kingdom)

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

^d UNIVERSITY OF SHEFFIELD   (United Kingdom)

^e ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^f SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^g HÔPITAL SAINT ANDRÉ   (France)

^h GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁱ Lumiderm   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2;

ADULT; ARTICLE; FEMALE; GENE; GENE IDENTIFICATION; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; VITILIGO;

EID: 79956004046     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.12     Document Type: Article

References (29)

1. 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 (Pubitemid 36597056)
2. Bacanu SA, Devlin B, Roeder K (2002) Association studies for quantitative traits in structured populations. Genet Epidemiol 22:78-93 (Pubitemid 34019893)
3. Barrett JC, Fry B, Maller J et al. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-5 (Pubitemid 40202029)
4. Birlea SA, Jin Y, Bennett DC et al. (2011) Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol 131:371-81
5. Bugawan TL, Klitz W, Blair A et al. (2000) High-resolution HLA class I typing in the CEPH families: analysis of linkage disequilibrium among HLA loci. Tissue Antigens 56:392-404
6. Cox DR (1972) Regression models and life tables. J Roy Stat Soc Ser B 34:187-220
7. Cui J, Taylor KE, Destefano AL et al. (2009) Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis. Mol Med 15:136-43
8. De Bakker PI, Ferreira MA, Jia X et al. (2008) Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol Genet 17:R122-8
9. Fain PR, Babu SR, Bennett DC et al. (2005) HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. Pigment Cell Res 19:51-7
10. Feng BJ, Sun LD, Soltani-Arabshahi R et al. (2009) Multiple loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet 5:e1000606
11. Goeman JJ (2010) L1 penalized estimation in the Cox proportional hazards model. Biometrical J 52:70-84
12. He C, Hamon S, Li D et al. (2009) MHC fine mapping of human type 1 diabetes using the T1DGC data. Diabetes Obes Metab 11(Suppl 1):53-9
13. Ioannidis JPA, Thomas G, Daly MJ (2009) Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 10:318-29
14. 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
15. Jin Y, Birlea SA, Fain PR et al. (2010b) Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet 42:576-8
16. 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 (Pubitemid 41032889)
17. Lange K, Cantor R, Horvath S et al. (2001) MENDEL version 4.0: a complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 69(Suppl):A1886
18. Majumder PP, Nordlund JJ, Nath SK (1993) Pattern of familial aggregation of vitiligo. Arch Dermatol 129:994-8 (Pubitemid 23238604)
19. Orozco G, Eerligh P, Sánchez E et al. (2005) Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. Hum Immunol 66:1235-41
20. Pathan S, Gowdy RE, Cooney R et al. (2009) Confirmation of the novel association at the BTNL2 locus with ulcerative colitis. Tissue Antigens 74:322-9
21. Price AL, Patterson NJ, Plenge RM et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-9 (Pubitemid 44141658)
22. Purcell S, Neale B, Todd-Brown K et al. (2007) PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 81:559-75 (Pubitemid 47330214)
23. 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
24. Rezaei N, Gavalas NG, Weetman AP et al. (2006) Autoimmunity as an aetiological factor in vitiligo. J Eur Acad Dermatol Venereol 21:865-76 (Pubitemid 47103715)
25. Simmonds MJ, Heward JM, Barrett JC et al. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clin Endocrinol (Oxf) 65:429-32 (Pubitemid 44414264)
26. Spritz RA (2008) The genetics of generalized vitiligo. Curr Dir Autoimmun 10:244-57
27. Spritz RA (2010) The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma. Genome Med 2:78
28. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-89 (Pubitemid 32289743)
29. Valentonyte R, Hampe J, Huse K et al. (2005) Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 37:357-64