Current understanding of human genetics and genetic analysis of psoriasis

Journal of Dermatology

Volumn 39, Issue 3, 2012, Pages 231-241

  Oka, Akira ^a   Mabuchi, Tomotaka ^b   Ozawa, Akira ^b   Inoko, Hidetoshi ^b  

^a TOKAI UNIVERSITY   (Japan)

^b TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

common disease common variant; genome wide association study; missing heritability; psoriasis; rare variant

Indexed keywords

HLA C ANTIGEN;

ALLELE; CHROMOSOME 17Q; CHROMOSOME 1Q; CHROMOSOME 3Q; DISEASE COURSE; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; OUTCOME ASSESSMENT; PSORIASIS; REVIEW;

CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 3; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS;

EID: 84857560127     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2012.01504.x     Document Type: Review

References (134)

1. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-1080. (Pubitemid 19231815)
2. Ray PN, Belfall B, Duff C, et al. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 1985; 318: 672-675. (Pubitemid 16172419)
3. Mendelian Inheritance in Man. Available at: (Accessed September 7, 2011).
4. Witte JS, Elston RC, Schork NJ,. Genetic dissection of complex traits. Nat Genet 1996; 12: 355-356.
5. Lander ES,. The new genomics: global views of biology. Science 1996; 274: 536-539. (Pubitemid 26360427)
6. Reich DE, Lander ES,. On the allelic spectrum of human disease. Trends Genet 2001; 17: 502-510. (Pubitemid 32763048)
7. Risch N, Merikangas K,. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517. (Pubitemid 26301653)
8. International HapMap Project. Available at:.
9. The International HapMap 3 Consortium. Integrating common and rare genetic variation in diverse human populations. Nature 2010; 467: 52-58.
10. Wade N,. A decade later, genetic map yields few new cures. New York Times 2010; 13 Jun (Page A1).
11. Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362-9367.
12. Maher B,. The case of the missing heritability. Nature 2008; 456: 18-21.
13. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
14. So HC, Gui AH, Cherny SS, Sham PC,. Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol 2011; 35: 310-317.
15. Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40: 955-962.
16. Libioulle C, Louis E, Hansoul S, et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet 2007; 3: e58.
17. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007; 39: 596-604. (Pubitemid 46676115)
18. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447: 661-678.
19. Faraone SV, Perlis RH, Doyle AE, et al. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry 2005; 57: 1313-1323. (Pubitemid 40798551)
20. Franke B, Neale BM, Faraone SV,. Genome-wide association studies in ADHD. Hum Genet 2009; 126: 13-50.
21. van der Sluis S, Verhage M, Posthuma D, Dolan CV,. Phenotypic complexity, measurement bias, and poor phenotypic resolution contribute to the missing heritability problem in genetic association studies. PLoS ONE 2010; 5: e13929.
22. Cavalli-Sforza LL, Feldman MW,. The application of molecular genetic approaches to the study of human evolution. Nat Genet 2003; 33 (Suppl): 266-275. (Pubitemid 36284715)
23. Li JZ, Absher DM, Tang H, et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 2008; 319: 1100-1104. (Pubitemid 351300793)
24. Altshuler D, Daly MJ, Lander ES,. Genetic mapping in human disease. Science 2008; 322: 881-888.
25. Klein RJ, Xu X, Mukherjee S, Willis J, Hayes J,. Successes of genome-wide association studies. Cell 2010; 142: 350-351.
26. Raychaudhuri S,. Mapping rare and common causal alleles for complex human diseases. Cell 2011; 147: 57-69.
27. Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317: 1397-1400. (Pubitemid 47417481)
28. McClellan J, King MC,. Genetic heterogeneity in human disease. Cell 2010; 141: 210-217.
29. Olson A,. Seeking the signs of selection. Science 2002; 298: 1324-1325.
30. Asthana S, Schmidt S, Sunyaev S,. A limited role for balancing selection. Trends Genet 2005; 21: 30-32. (Pubitemid 40178846)
31. Saunders MA, Hammer MF, Nachman MW,. Nucleotide variability at G6pd and the signature of malarial selection in humans. Genetics 2002; 162: 1849-1861. (Pubitemid 36114668)
32. Sulem P, Gudbjartsson DF, Stacey SN, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 2007; 39: 1443-52. (Pubitemid 350191337)
33. Daly AK, Donaldson PT, Bhatnagar P, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet 2009; 41: 816-819.
34. Hedrick PW, Thomson G,. Evidence for balancing selection at HLA. Genetics 1983; 104: 449-456. (Pubitemid 13011682)
35. Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci USA 2008; 105: 1620-1625. (Pubitemid 351346564)
36. Sankaran VG, Menne TF, Xu J, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 2008; 322: 1839-1842.
37. Sankaran VG, Lettre G, Orkin SH, Hirschhorn JN,. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Ann NY Acad Sci 2010; 1214: 47-56.
38. Goldstein DB,. Common genetic variation and human traits. N Engl J Med 2009; 360: 1696-1698.
39. Jonathan K,. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
40. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411: 599-603. (Pubitemid 32531408)
41. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001; 411: 603-606. (Pubitemid 32531409)
42. Cirulli ET, Goldstein DB,. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010; 11: 415-425.
43. Metzker ML,. Metzker sequencing technologies-the next generation. Nat Rev Genet 2010; 11: 31-46.
44. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009; 461: 272-276.
45. Girard SL, Gauthier J, Noreau A, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet 2011; 43: 860-863.
46. Xu B, Roos JL, Dexheimer P, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet 2011; 43: 864-868.
47. O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585-589.
48. Klassen T, Davis C, Goldman A, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011; 145: 1036-1048.
49. Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63.
50. Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109-1112.
51. Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008; 320: 539-543. (Pubitemid 351590668)
52. Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M,. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008; 40: 880-885. (Pubitemid 351913650)
53. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237-241.
54. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008; 455: 232-236.
55. McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41: 1223-1227.
56. Vacic V, McCarthy S, Malhotra D, et al. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 2011; 471: 499-503.
57. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-449. (Pubitemid 46651493)
58. Levy D, Ronemus M, Yamrom B, et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 2011; 70: 886-897.
59. Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160-162.
60. Heinzen EL, Radtke RA, Urban TJ, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010; 86: 707-718.
61. de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133: 23-32.
62. Williams NM, Zaharieva I, Martin A, et al. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 2010; 376: 1401-1408.
63. Levy D, Ehret GB, Rice K, et al. Genome-wide association study of blood pressure and hypertension. Nat Genet 2009; 41: 677-687.
64. Wang Y, O'Connell JR, McArdle PF, et al. Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009; 106: 226-231.
65. Kato N, Takeuchi F, Tabara Y, et al. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. Nat Genet 2011; 43: 531-538.
66. International Consortium for Blood Pressure Genome-Wide Association Studies. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011; 478: 103-109.
67. Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40: 592-599. (Pubitemid 351601207)
68. Nejentsev S, Walker N, Riches D, Egholm M, Todd JA,. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009; 324: 387-389.
69. Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH,. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004; 305: 869-872. (Pubitemid 39038422)
70. Johansen CT, Wang J, Lanktree MB, et al. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet 2010; 42: 684-687.
71. Bochukova EG, Huang N, Keogh J, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010; 463: 666-670.
72. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB,. Rare variants create synthetic genome-wide associations. PLoS Biol 2010; 8: e1000294.
73. Goldstein DB,. The importance of synthetic associations will only be resolved empirically. PLoS Biol 2011; 9: e1001008.
74. Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H,. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet 2010; 86: 730-742.
75. Wray NR, Purcell SM, Visscher PM,. Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol 2011; 9: e1000579.
76. Anderson CA, Soranzo N, Zeggini E, Barrett JC,. Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol 2011; 9: e1000580.
77. Lowes MA, Bowcock AM, Krueger JG,. Pathogenesis and therapy of psoriasis. Nature 2007; 445: 866-873.
78. Di Cesare A, Di Meglio P, Nestle FO,. The IL-23/Th17 axis in the immunopathogenesis of psoriasis. J Invest Dermatol 2009; 129: 1339-1350.
79. Bowcock AM, Krueger JG,. Getting under the skin: the immunogenetics of psoriasis. Nat Rev Immunol 2005; 5: 699-711. (Pubitemid 43090738)
80. Wagner EF, Schonthaler HB, Guinea-Viniegra J, Tschachler E,. Psoriasis: what we have learned from mouse models. Nat Rev Rheumatol 2010; 6: 704-714.
81. Schäfer T,. Epidemiology of psoriasis. Review and the German perspective. Dermatology 2006; 212: 327-337.
82. Yip SY,. The prevalence of psoriasis in the Mongoloid race. J Am Acad Dermatol 1984; 10: 965-968. (Pubitemid 14111149)
83. Raychaudhuri SP, Farber EM,. The prevalence of psoriasis in the world. J Eur Acad Dermatol Venereol 2001; 15: 16-17. (Pubitemid 32842766)
84. Wuepper KD, Coulter SN, Haberman A,. Psoriasis vulgaris: a genetic approach. J Invest Dermatol 1990; 95: 2S-4S.
85. Duffy DL, Spelman LS, Martin NG,. Psoriasis in Australian twins. J Am Acad Dermatol 1993; 29: 428-434. (Pubitemid 23260131)
86. Elder JT, Nair RP, Henseler T, et al. The genetics of psoriasis 2001: the odyssey continues. Arch Dermatol 2001; 137: 1447-1454. (Pubitemid 33069391)
87. Butler MG,. Genetics of hypertension. Current status. J Med Liban 2010; 58: 175-178.
88. Tysk C, Lindberg E, Järnerot G, Flodérus-Myrhed B,. Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut 1988; 29: 990-996.
89. Newton JL, Harney SM, Wordsworth BP, Brown MA,. A review of the MHC genetics of rheumatoid arthritis. Genes Immun 2004; 5: 151-157. (Pubitemid 38967646)
90. Farber EM, Nall ML, Watson W,. Natural history of psoriasis in 61 twin pairs. Arch Dermatol 1974; 109: 207-211.
91. Henseler T, Christophers E,. Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J Am Acad Dermatol 1985; 13: 450-456. (Pubitemid 15016489)
92. Enerbäck C, Martinsson T, Inerot A, et al. Significantly earlier age at onset for the HLA-Cw6-positive than for the Cw6-negative psoriatic sibling. J Invest Dermatol 1997; 109: 695-696. (Pubitemid 27465929)
93. Enerbäck C, Nilsson S, Enlund F, et al. Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients. Arch Dermatol Res 2000; 292: 525-530. (Pubitemid 32003034)
94. Queiro R, Torre JC, González S, López-Larrea C, Tinturé T, López-Lagunas I,. HLA antigens may influence the age of onset of psoriasis and psoriatic arthritis. J Rheumatol 2003; 30: 505-507. (Pubitemid 36301942)
95. Fan X, Yang S, Sun LD, et al. Comparison of clinical features of HLA-Cw*0602-positive and -negative psoriasis patients in a Han Chinese population. Acta Derm Venereol 2007; 87: 335-340.
96. Kim TG, Lee HJ, Youn JI, Kim TY, Han H,. The association of psoriasis with human leukocyte antigens in Korean population and the influence of age of onset and sex. J Invest Dermatol 2000; 114: 309-313. (Pubitemid 30417766)
97. Romphruk AV, Romphruk A, Choonhakarn C, Puapairoj C, Inoko H, Leelayuwat C,. Major histocompatibility complex class I chain-related gene A in Thai psoriasis patients: MICA association as a part of human leukocyte antigen-B-Cw haplotypes. Tissue Antigens 2004; 63: 547-554. (Pubitemid 38750227)
98. Bowcock AM, Cookson WO,. The genetics of psoriasis, psoriatic arthritis and atopic dermatitis. Hum Mol Genet 2004; 13 (Spec No 1): R43-R55. (Pubitemid 38443798)
99. Tomfohrde J, Silverman A, Barnes R, et al. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994; 264: 1141-1145. (Pubitemid 24210675)
100. Matthews D, Fry L, Powles A, Weissenbach J, Williamson R,. Confirmation of genetic heterogeneity in familial psoriasis. J Med Genet 1995; 32: 546-548.
101. Nair RP, Guo SW, Jenisch S, et al. Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus. Hum Hered 1995; 45: 219-230.
102. Enlund F, Samuelsson L, Enerbäck C, et al. Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q. Hum Hered 1999; 49: 2-8. (Pubitemid 29050288)
103. Nair RP, Henseler T, Jenisch S, et al. Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 1997; 6: 1349-1356. (Pubitemid 27351077)
104. Speckman RA, Wright Daw JA, Helms C, et al. Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. Hum Genet 2003; 112: 34-41. (Pubitemid 36869113)
105. Helms C, Cao L, Krueger JG, et al. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 2003; 35: 349-356. (Pubitemid 37486918)
106. Capon F, Helms C, Veal CD, et al. Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis. J Med Genet 2004; 41: 459-460. (Pubitemid 38788043)
107. Stuart P, Nair RP, Abecasis GR, et al. Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage. J Med Genet 2006; 43: 12-17. (Pubitemid 43099990)
108. Hüffmeier U, Traupe H, Burkhardt H, et al. Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. J Invest Dermatol 2005; 124: 107-110. (Pubitemid 40100956)
109. Capon F, Novelli G, Semprini S, et al. Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol 1999; 112: 32-35. (Pubitemid 29024702)
110. Capon F, Semprini S, Chimenti S, et al. Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol 2001; 116: 728-730. (Pubitemid 32467651)
111. de Cid R, Riveira-Munoz E, Zeeuwen PL, et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis population. Nat Genet 2009; 41: 211-215.
112. Riveira-Munoz E, He SM, Escaramís G, et al. Meta-analysis confirms the LCE3C-LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol 2011; 131: 1105-1109.
113. Samuelsson L, Enlund F, Torinsson A, et al. A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach. Hum Genet 1999; 105: 523-529. (Pubitemid 30026028)
114. Enlund F, Samuelsson L, Enerbäck C, et al. Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 1999; 7: 783-790. (Pubitemid 29516237)
115. Hewett D, Samuelsson L, Polding J, et al. Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. Genomics 2002; 79: 305-314. (Pubitemid 34211938)
116. National Human Genome Research Insititute. A Catalog of Genome-wide Association Studies. Available at: (Accessed September 7, 2011).
117. Zhang XJ, Huang W, Yang S, et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009; 41: 205-210.
118. Nair RP, Duffin KC, Helms C, et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-κappaB pathways. Nat Genet 2009; 41: 199-204.
119. Cargill M, Schrodi SJ, Chang M, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 2007; 80: 273-290. (Pubitemid 46175676)
120. Ellinghaus E, Ellinghaus D, Stuart PE, et al. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet 2010; 42: 991-995.
121. Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2, Strange A, Capon F, et al.,. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010; 42: 985-990.
122. Hüffmeier U, Uebe S, Ekici AB, et al. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 2010; 42: 996-999.
123. Stuart PE, Nair RP, Ellinghaus E, et al. Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet 2010; 42: 1000-1004.
124. McClellan J, King MC,. Why it is time to sequence. Cell 2010; 142: 353-355.
125. Lee YA, Rüschendorf F, Windemuth C, et al. Genomewide scan in German families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet 2000; 67: 1020-1024.
126. Chen H, Poon A, Yeung C, et al. A genetic risk score combining ten psoriasis risk loci improves disease prediction. PLoS ONE 2011; 6: e19454.
127. Consensus CDS protein set; CCDS Database
128. Veal CD, Clough RL, Barber RC, et al. Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci. J Med Genet 2001; 38: 7-13. (Pubitemid 32102316)
129. Matthews D, Fry L, Powles A, et al. Evidence that a locus for familial psoriasis maps to chromosome 4q. Nat Genet 1996; 14: 231-233. (Pubitemid 26338812)
130. Zhang XJ, He PP, Wang ZX, et al. Evidence for a major psoriasis susceptibility locus at 6p21(PSORS1) and a novel candidate region at 4q31 by genome-wide scan in Chinese hans. J Invest Dermatol 2002; 119: 1361-1366.
131. International Psoriasis Genetics Consortium. The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs. Am J Hum Genet 2003; 73: 430-437.
132. Asumalahti K, Laitinen T, Lahermo P, et al. Psoriasis susceptibility locus on 18p revealed by genome scan in Finnish families not associated with PSORS1. J Invest Dermatol 2003; 121: 735-740. (Pubitemid 37239115)
133. Liu Y, Helms C, Liao W, et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 2008; 4: e1000041.
134. Capon F, Bijlmakers MJ, Wolf N, et al. Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Mol Genet 2008; 17: 1938-45. (Pubitemid 351865842)