Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B)

Journal of Investigative Dermatology

Volumn 133, Issue 6, 2013, Pages 1677-1679

  Ferrara, Tracey M ^a   Jin, Ying ^a,b   Gowan, Katherine ^a   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)

Author keywords

[No Author keywords available]

Indexed keywords

GRANZYME B; PERFORIN;

ALLELE; APOPTOSIS; CYTOTOXIC T LYMPHOCYTE; GENE LINKAGE DISEQUILIBRIUM; GENERALIZED VITILIGO; GENETIC ASSOCIATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; LETTER; PRIORITY JOURNAL; PROTEIN DEGRADATION; REPLICATION STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TARGET CELL; VITILIGO;

EID: 84878614887     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.5     Document Type: Letter

References (18)

1. Darrah E, Rosen A (2010) Granzyme B cleavage of autoantigens in autoimmunity. Cell Death Diff 17:624-32
2. Donn R, Ellison S, Lamb R et al. (2008) Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. Arthritis Rheum 58:869-74
3. Ewen CL, Kane KP, Bleackley RC (2012) A quarter century of granzymes. Cell Death Diff 19:28-35
4. Gaafar A, Aljurf MD, Al-Sulaiman A et al. (2009) Defective gd T-cell function and granzyme B gene polymorphism in a cohort of newly diagnosed breast cancer patients. Exp Hematol 37:838-48
5. Girnita DM, Webber SA, Brooks MM et al. (2009) Genotypic variation and phenotypic characterization of granzyme B gene polymorphisms. Transplantation 87:1801-6
6. Granville DJ (2010) Granzymes in disease: bench to bedside. Cell Death Diff 17:565-6
7. Jin Y, Birlea SA, Fain PR et al. (2010) Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. New Engl J Med 362:1686-97
8. Jin Y, Birlea SA, Fain PR et al. (2012) Genomewide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet 44:676-80
9. Kucuksezer UC, Duymaz-Tozkier J, Gül A et al. (2009) No association of granzyme B polymorphism with Behçet's disease. Clin Exp Rheumatol 27(2 Suppl 53):S102
10. McIlroy D, Cartron P-F, Tuffery P et al. (2003) A triple-mutated allele of granzyme B incapable of inducing apoptosis. Proc Natl Acad Sci USA 100:2562-7
11. Odake S, Kam CM, Narasimhan L et al. (1991) Human and murine cytotoxic T lymphocyte serine proteases: subsite mapping with peptide thioester substrates and inhibition of enzyme activity and cytolysis by isocoumarins. Biochem 30:2217-27
12. Ogg GS, Dunbar PR, Romero P et al. (1998) High frequency of skin-homing melanocyte-specific cytotoxic T lymphocytes in autoimmune vitiligo. J Exp Med 188:1203-8
13. Picardo M, Taïeb A eds. (2010) Vitiligo. Springer: New York
14. Sattar R, Ali SA, Abbasi A (2003) Bioinformatics of granzymes: sequence comparison and structural studies on granzyme family by homology modeling. Biochem Biophys Res Comm 308:726-35
15. Sercarz EE, Lehmann PV, Ametani A et al. (1993) Dominance and crypticity of T cell antigenic determinants. Annu Rev Immunol 11:729-66
16. Sun J, Bird CH, Thia KY et al. (2004) Granzyme B encoded by the commonly occurring human RAH allele retains pro-apoptotic activity. J Biol Chem 279:16907-11
17. Wee LJ, Er EP, Ng LF et al. (2011) In silico prediction of the granzyme B degradome. BMC Genomics 12:S11
18. Zaitsu M, Yamamoto K, Ishii E et al. (2004) High frequency of QPY allele and linkage disequilibrium of granzyme-B in Epstein-Barr-virusassociated hemophagocytic lymphohistiocytosis. Tissue Antigen 64:611-5