Richard A Spritz

Summary

Affiliation: University of Colorado Denver
Country: USA

Publications

  1. pmc Modern vitiligo genetics sheds new light on an ancient disease
    Richard A Spritz
    Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Dermatol 40:310-8. 2013
  2. pmc Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis
    Richard A Spritz
    Human Medical Genetics Program, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Invest Dermatol 132:268-73. 2012
  3. pmc Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado 80113, USA
    Thyroid 20:745-54. 2010
  4. pmc The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, CO 80045, USA
    Genome Med 2:78. 2010
  5. pmc Recent progress in the genetics of generalized vitiligo
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, CO 80045, USA
    J Genet Genomics 38:271-8. 2011
  6. pmc Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, School of Medicine, University of Colorado, P O Box 6511, Mailstop 8300, Aurora, CO 80045, USA
    N Engl J Med 362:1686-97. 2010
  7. pmc Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1)
    Ying Jin
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:774-83. 2010
  8. pmc CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data
    Stanca A Birlea
    Human Medical Genetics Program, University of Colorado, Denver, Colorado, USA
    Pigment Cell Melanoma Res 22:230-4. 2009
  9. pmc Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset
    Ying Jin
    Human Medical Genetics Program, University of Colorado Denver School of Medicine, Aurora, Colorado 80045, USA
    J Invest Dermatol 131:1308-12. 2011
  10. pmc Common variants in FOXP1 are associated with generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
    Nat Genet 42:576-8. 2010

Collaborators

Detail Information

Publications35

  1. pmc Modern vitiligo genetics sheds new light on an ancient disease
    Richard A Spritz
    Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Dermatol 40:310-8. 2013
    ..This biological framework offers insight into both vitiligo pathogenesis and perhaps avenues towards more effective approaches to treatment and even disease prevention...
  2. pmc Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis
    Richard A Spritz
    Human Medical Genetics Program, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Invest Dermatol 132:268-73. 2012
    ..These results thus validate the hopes and efforts of the early investigators who first attempted to comprehend the genetic basis of vitiligo...
  3. pmc Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado 80113, USA
    Thyroid 20:745-54. 2010
    ....
  4. pmc The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, CO 80045, USA
    Genome Med 2:78. 2010
    ....
  5. pmc Recent progress in the genetics of generalized vitiligo
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, CO 80045, USA
    J Genet Genomics 38:271-8. 2011
    ....
  6. pmc Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, School of Medicine, University of Colorado, P O Box 6511, Mailstop 8300, Aurora, CO 80045, USA
    N Engl J Med 362:1686-97. 2010
    ..Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases...
  7. pmc Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1)
    Ying Jin
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:774-83. 2010
    ..These support the validity of the chromosomes 7 and 9 linkage/association signals and underscore the utility of gene-gene interaction analysis in characterizing the genetic effects of candidate association signals...
  8. pmc CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data
    Stanca A Birlea
    Human Medical Genetics Program, University of Colorado, Denver, Colorado, USA
    Pigment Cell Melanoma Res 22:230-4. 2009
    ..Our results indicate that the association of CTLA4 with vitiligo is weak, and indeed may be secondary, driven by primary genetic association of CTLA4 with other autoimmune diseases that are epidemiologically associated with vitiligo...
  9. pmc Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset
    Ying Jin
    Human Medical Genetics Program, University of Colorado Denver School of Medicine, Aurora, Colorado 80045, USA
    J Invest Dermatol 131:1308-12. 2011
    ....
  10. pmc Common variants in FOXP1 are associated with generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
    Nat Genet 42:576-8. 2010
    ..04x10(-8)) and with variants at 6q27 encompassing CCR6 (rs6902119, combined P=3.94x10(-7))...
  11. pmc Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo
    Ying Jin
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado, USA
    Nat Genet 44:676-80. 2012
    ..81 × 10(-10)). Most vitiligo susceptibility loci encode immunoregulatory proteins or melanocyte components that likely mediate immune targeting and the relationships among vitiligo, melanoma, and eye, skin and hair coloration...
  12. pmc Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 128:2442-50. 2008
    ..This study demonstrates that, contrary to long-held clinical lore, OCA1, not OCA2, is by far the most frequent cause of OCA among Caucasian patients...
  13. pmc NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome
    Cecilia B Levandowski
    Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045, USA
    Proc Natl Acad Sci U S A 110:2952-6. 2013
    ....
  14. ncbi request reprint A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases
    Stanca A Birlea
    FACMG, Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, PO Box 6511, Mail Stop 8300, Aurora, CO 80045, USA
    Arch Dermatol 144:310-6. 2008
    ..To characterize the epidemiology and genetics of vitiligo and associated autoimmune diseases in a population isolate in Romania in which there is a high frequency of these diseases...
  15. ncbi request reprint Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population
    Ying Jin
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, Colorado 80045, USA
    J Invest Dermatol 127:2558-62. 2007
    ..20 compared with individuals carrying a high-risk allele from only one signal. These findings support the involvement of NALP1 in predisposition to generalized vitiligo...
  16. pmc Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8
    Stanca A Birlea
    Human Medical Genetics Program, Department of Dermatology, University of Colorado Denver, Aurora, Colorado 80045, USA
    J Invest Dermatol 130:798-803. 2010
    ..00. SMOC2 encodes a modular extracellular calcium-binding glycoprotein of unknown function. Our findings indicate that SMOC2 is a risk locus for generalized vitiligo and perhaps other autoimmune diseases...
  17. pmc Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP
    Stanca A Birlea
    Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado 80045, USA
    J Invest Dermatol 131:371-81. 2011
    ..Within the major histocompatibility complex (MHC), at 6p21.33, association with TAP1-PSMB8 (rs3819721, P=5.2E-06) seems to derive from linkage disequilibrium with major primary signals in the MHC class I and class II regions...
  18. ncbi request reprint NALP1 in vitiligo-associated multiple autoimmune disease
    Ying Jin
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA
    N Engl J Med 356:1216-25. 2007
    ..The group includes various combinations of generalized vitiligo, autoimmune thyroid disease, latent autoimmune diabetes in adults, rheumatoid arthritis, psoriasis, pernicious anemia, systemic lupus erythematosus, and Addison's disease...
  19. ncbi request reprint Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort
    R Christopher Weatherley-White
    Department of Surgery, University of Colorado School of Medicine, Aurora, 80045, USA
    Am J Med Genet A 155:2422-25. 2011
    ....
  20. ncbi request reprint Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo
    Greggory Laberge
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO, USA
    Pigment Cell Res 18:300-5. 2005
    ..These findings have important implications for autoimmune disease surveillance in families in which multiple members are affected with vitiligo...
  21. doi request reprint The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population
    Greggory S Laberge
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA
    Pigment Cell Melanoma Res 21:206-8. 2008
    ....
  22. doi request reprint PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not
    Greggory S Laberge
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, Colorado 80045, USA
    J Invest Dermatol 128:1757-62. 2008
    ..These results implicate PTPN22 in mediating susceptibility to generalized vitiligo and associated autoimmune diseases, but do not support a role for CTLA4...
  23. ncbi request reprint HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset
    Pamela R Fain
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora, USA
    Pigment Cell Res 19:51-7. 2006
    ..Overall, our results indicate that specific MHC-linked genetic variation contributes to risk of familial vitiligo, although HLA does not completely explain familial clustering of vitiligo-associated autoimmune/autoinflammatory diseases...
  24. doi request reprint A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
    Saunie M Hutton
    Human Medical Genetics Program, University of Colorado Denver, Anshutz Medical Campus, Aurora, Colorado 80045, USA
    Invest Ophthalmol Vis Sci 49:868-72. 2008
    ..The purpose of this study was to characterize the relative prevalence of different genetic forms of AROA, and to characterize a sample repertoire of gene mutations in a large series of Caucasian patients with AROA...
  25. ncbi request reprint The genetics of generalized vitiligo and associated autoimmune diseases
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, PO Box 6511, Mail Stop 8300, Aurora, CO 80045, USA
    Pigment Cell Res 20:271-8. 2007
    ..It is anticipated that the discovery of biological pathways of vitiligo pathogenesis will provide novel targets for future approaches to the treatment and prevention of vitiligo and its associated autoimmune diseases...
  26. ncbi request reprint Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families
    Asem Alkhateeb
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, CO, USA
    Pigment Cell Res 16:208-14. 2003
    ..These results suggest that genomic analysis of families with generalized vitiligo and this specific constellation of associated autoimmune disorders will be important to identify the mechanisms of genetic susceptibility to autoimmunity...
  27. doi request reprint The genetics of generalized vitiligo
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA
    Curr Dir Autoimmun 10:244-57. 2008
    ....
  28. ncbi request reprint Human and mouse disorders of pigmentation
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E Ninth Ave, B161, Denver, Colorado 80262, USA
    Curr Opin Genet Dev 13:284-9. 2003
    ..Our understanding of disorders of pigmentation indicates that these diseases may be most usefully considered as abnormalities of melanocyte development, function, or survival...
  29. ncbi request reprint The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain
    Naoki Oiso
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E 9th Ave, B161, Denver, Colorado 80262, USA
    Mamm Genome 15:307-14. 2004
    ..In humans, seven different HPS genes are known. In the mouse, at least 16 loci associated with HPS-like mutant phenotypes are known, seven of which are homologous to the human HPS loci...
  30. ncbi request reprint The genetics of generalized vitiligo and associated autoimmune diseases
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, P O Box 6511, Mail Stop 8300, Aurora, 80045, USA
    J Dermatol Sci 41:3-10. 2006
    ....
  31. ncbi request reprint Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2
    Asem Alkhateeb
    Human Medical Genetics Program, Department of Medicine, University of Colorado Health Sciences Center, 4200 East Ninth Ave, B161, Denver, CO 80262, USA
    Hum Mol Genet 11:661-7. 2002
    ....
  32. pmc Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation
    Scott W Biggins
    University of Colorado Denver, Division of Gastroenterology and Hepatology, Aurora, CO 80045, United States
    J Hepatol 58:969-76. 2013
    ..We aimed at evaluating the associations of donor and recipient IL28B (rs12979860 and rs8099917) and DDX58 (rs10813831) genotypes with severity of HCV recurrence after liver transplantation...
  33. pmc Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences
    Weiguo Feng
    Department of Craniofacial Biology, University of Colorado Denver, Aurora, Colorado, USA
    PLoS ONE 4:e8066. 2009
    ..Overall, our studies provide a valuable resource for probing orofacial development and a robust dataset for bioinformatic analysis of spatial and temporal gene expression changes during embryogenesis...
  34. ncbi request reprint Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, Aurora 80045, USA
    Cleft Palate Craniofac J 44:374-7. 2007
    ..To investigate the pattern and distribution of nonsyndromic orofacial clefts among patients in the Rift Valley region of northwestern Kenya...
  35. ncbi request reprint "Out, damned spot!"
    Richard A Spritz
    Human Medical Genetics Program, University of Colorado Health Sciences Center, Mail Stop 8300, PO Box 6511, Aurora, CO 80045, USA
    J Invest Dermatol 126:949-51. 2006
    ....