Psoriasis regression analysis of MHC loci identifies shared genetic variants with vitiligo

PLoS ONE

Volumn 6, Issue 11, 2011, Pages

  Zhu, Kun Ju ^a,b   Lv, Yong Mei ^a,b   Yin, Xian Yong ^a,b   Wang, Zai Xing ^a,b   Sun, Liang Dan ^a,b   He, Su Min ^a,b   Cheng, Hui ^a,b   Hu, Da Yan ^a,b   Zhang, Zheng ^a,b   Li, Yang ^a,b   Zuo, Xian Bo ^a,b   Zhou, You Wen ^a,b,c   Yang, Sen ^a,b   Fan, Xing ^a,b   Zhang, Xue Jun ^a,b   Zhang, Feng Yu ^a,b  

^a ANHUI MEDICAL UNIVERSITY   (China)

^b State Key Laboratory Incubation Base of Dermatology   (China)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHINESE; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MODEL; GENETIC VARIABILITY; GENOTYPE; HLA B GENE; HLA C GENE; HLA DQA2 GENE; HUMAN; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; PATHOGENESIS; PROMOTER REGION; PSORIASIS; REGRESSION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VITILIGO; ADOLESCENT; CHROMOSOME 6; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

HLA ANTIGEN; HLA B ANTIGEN; HLA C ANTIGEN; HLA DQ ANTIGEN; HLA DQA2 ANTIGEN; HLA-DQA2 ANTIGEN;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HLA-B ANTIGENS; HLA-C ANTIGENS; HLA-DQ ANTIGENS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS; REGRESSION ANALYSIS; VITILIGO; YOUNG ADULT;

EID: 81355124050     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0023089     Document Type: Article

References (50)

1. Griffiths CE, Barker JN, (2007) Pathogenesis and clinical features of psoriasis. Lancet 370: 263-271.
2. Krueger JG, Bowcock A, (2005) Psoriasis pathophysiology: current concepts of pathogenesis. Ann Rheum Dis 64 (Suppl 2): ii30-36.
3. Zhang X, Wang H, Te-Shao H, Yang S, Chen S, (2002) The genetic epidemiology of psoriasis vulgaris in Chinese Han. Int J Dermatol 41: 663-669.
4. Nestle FO, Kaplan DH, Barker J, (2009) Psoriasis. N Engl J Med 361: 496-509.
5. Sagoo GS, Tazi-Ahnini R, Barker JW, Elder JT, Nair RP, et al. (2004) Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population. J Invest Dermatol 122: 1401-1405.
6. Nair RP, Henseler T, Jenisch S, Stuart P, Bichakjian CK, et al. (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 6: 1349-1356.
7. Trembath RC, Clough RL, Rosbotham JL, Jones AB, Camp RD, et al. (1997) Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet 6: 813-820.
8. Burden AD, Javed S, Bailey M, Hodgins M, Connor M, et al. (1998) Genetics of psoriasis: paternal inheritance and a locus on chromosome 6p. J Invest Dermatol 110: 958-960.
9. Capon F, Trembath RC, Barker JN, (2004) An update on the genetics of psoriasis. Dermatol Clin 22: 339-347, vii.
10. Fernando MM, Stevens CR, Walsh EC, De Jager PL, Goyette P, et al. (2008) Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 4: e1000024.
11. Zhang XJ, Huang W, Yang S, Sun LD, Zhang FY, et al. (2009) Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 41: 205-210.
12. Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, et al. Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet 42: 576-578.
13. Quan C, Ren YQ, Xiang LH, Sun LD, Xu AE, et al. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet 42: 614-618.
14. Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, et al. (2009) Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 41: 199-204.
15. Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, et al. (2004) Gene map of the extended human MHC. Nat Rev Genet 5: 889-899.
16. Elder JT, Nair RP, Henseler T, Jenisch S, Stuart P, et al. (2001) The genetics of psoriasis 2001: the odyssey continues. Arch Dermatol 137: 1447-1454.
17. Rioux JD, Goyette P, Vyse TJ, Hammarstrom L, Fernando MM, et al. (2009) Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci U S A 106: 18680-18685.
18. Feng BJ, Sun LD, Soltani-Arabshahi R, Bowcock AM, Nair RP, et al. (2009) Multiple Loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet 5: e1000606.
19. Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, et al. (2010) Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease. Nat Genet 42: 698-702.
20. Breiman L, (2001) Random Forests. Machine Learning 45: 4:32.
21. Bureau A, Dupuis J, Falls K, Lunetta KL, Hayward B, et al. (2005) Identifying SNPs predictive of phenotype using random forests. Genet Epidemiol 28: 171-182.
22. Epstein MP, Allen AS, Satten GA, (2007) A simple and improved correction for population stratification in case-control studies. Am J Hum Genet 80: 921-930.
23. Setakis E, Stirnadel H, Balding DJ, (2006) Logistic regression protects against population structure in genetic association studies. Genome Res 16: 290-296.
24. Quan C, Ren YQ, Xiang LH, Sun LD, Xu AE, et al. (2010) Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet 42: 614-618.
25. Suomela S, Kainu K, Onkamo P, Tiala I, Himberg J, et al. (2007) Clinical associations of the risk alleles of HLA-Cw6 and CCHCR1*WWCC in psoriasis. Acta Derm Venereol 87: 127-134.
26. Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, et al. (2002) Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet 11: 589-597.
27. Chang YT, Chou CT, Shiao YM, Lin MW, Yu CW, et al. (2006) Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes. Br J Dermatol 155: 663-669.
28. Tiala I, Wakkinen J, Suomela S, Puolakkainen P, Tammi R, et al. (2008) The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice. Hum Mol Genet 17: 1043-1051.
29. de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, et al. (2006) A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 38: 1166-1172.
30. Rudy GB, Lew AM, (1997) The nonpolymorphic MHC class II isotype, HLA-DQA2, is expressed on the surface of B lymphoblastoid cells. J Immunol 158: 2116-2125.
31. Yu LP, Sheehy MJ, (1991) The cryptic HLA-DQA2 ("DX alpha") gene is expressed in human B cell lines. J Immunol 147: 4393-4397.
32. Petukhova L, Duvic M, Hordinsky M, Norris D, Price V, et al. (2010) Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature 466: 113-117.
33. Rowe JR, Neme de Gimenez MH, Emler CA, Sheehy MJ, (1990) HLA-DQA2 (DX alpha) polymorphism and insulin dependent diabetes. Hum Immunol 29: 256-262.
34. Castiblanco J, Anaya JM, (2008) The IkappaBL gene polymorphism influences risk of acquiring systemic lupus erythematosus and Sjogren's syndrome. Hum Immunol 69: 45-51.
35. Greetham D, Ellis CD, Mewar D, Fearon U, an Ultaigh SN, et al. (2007) Functional characterization of NF-kappaB inhibitor-like protein 1 (NFkappaBIL1), a candidate susceptibility gene for rheumatoid arthritis. Hum Mol Genet 16: 3027-3036.
36. Liu Y, Helms C, Liao W, Zaba LC, Duan S, et al. (2008) A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 4: e1000041.
37. Chanda P, Zhang A, Sucheston L, Ramanathan M, (2009) A two-stage search strategy for detecting multiple loci associated with rheumatoid arthritis. BMC Proc 3 (Suppl 7): S72.
38. Hanna J, Wernig M, Markoulaki S, Sun CW, Meissner A, et al. (2007) Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 318: 1920-1923.
39. Kim S, Lim B, Kim J, (2010) EWS-Oct-4B, an alternative EWS-Oct-4 fusion gene, is a potent oncogene linked to human epithelial tumours. Br J Cancer 102: 436-446.
40. Moller E, Stenman G, Mandahl N, Hamberg H, Molne L, et al. (2008) POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands. J Pathol 215: 78-86.
41. Chang YT, Hsu CY, Chou CT, Lin MW, Shiao YM, et al. (2007) The genetic polymorphisms of POU5F1 gene are associated with psoriasis vulgaris in Chinese. J Dermatol Sci 46: 153-156.
42. Gonzalez S, Martinez-Borra J, Del Rio JS, Santos-Juanes J, Lopez-Vazquez A, et al. (2000) The OTF3 gene polymorphism confers susceptibility to psoriasis independent of the association of HLA-Cw*0602. J Invest Dermatol 115: 824-828.
43. Gonzalez S, Brautbar C, Martinez-Borra J, Lopez-Vazquez A, Segal R, et al. (2001) Polymorphism in MICA rather than HLA-B/C genes is associated with psoriatic arthritis in the Jewish population. Hum Immunol 62: 632-638.
44. Choi HB, Han H, Youn JI, Kim TY, Kim TG, (2000) MICA 5.1 allele is a susceptibility marker for psoriasis in the Korean population. Tissue Antigens 56: 548-550.
45. Wei J, Hemmings GP, (2000) The NOTCH4 locus is associated with susceptibility to schizophrenia. Nat Genet 25: 376-377.
46. Ujike H, Takehisa Y, Takaki M, Tanaka Y, Nakata K, et al. (2001) NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder. Neurosci Lett 301: 41-44.
47. Feldmann KA, Pittelkow MR, Roche PC, Kumar R, Grande JP, (2001) Expression of an immediate early gene, IEX-1, in human tissues. Histochem Cell Biol 115: 489-497.
48. Kumar R, Kobayashi T, Warner GM, Wu Y, Salisbury JL, et al. (1998) A novel immediate early response gene, IEX-1, is induced by ultraviolet radiation in human keratinocytes. Biochem Biophys Res Commun 253: 336-341.
49. Huang YH, Wu JY, Zhang Y, Wu MX, (2002) Synergistic and opposing regulation of the stress-responsive gene IEX-1 by p53, c-Myc, and multiple NF-kappaB/rel complexes. Oncogene 21: 6819-6828.
50. Roberson ED, Bowcock AM, (2010) Psoriasis genetics: breaking the barrier. Trends Genet 26: 415-423.