Genome-wide approaches to the etiology of eczema

Current Opinion in Allergy and Clinical Immunology

Volumn 10, Issue 5, 2010, Pages 418-426

  Esparza Gordillo, Jorge ^a,b   Marenholz, Ingo ^a,b   Lee, Young Ae ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

Atopic dermatitis; eczema; genome wide association; rs7927894; susceptibility

Indexed keywords

FILAGGRIN;

ALLELE; CHROMOSOME 11Q; CHROMOSOME 1Q; DISEASE PREDISPOSITION; ECZEMA; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HEREDITY; HOMOZYGOTE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; CELL DIFFERENTIATION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 11; CROHN DISEASE; ECZEMA; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IMMUNITY, MUCOSAL; INTERMEDIATE FILAMENT PROTEINS; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 77956266667     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0b013e32833dc75e     Document Type: Review

References (82)

1. Bieber T. Atopic dermatitis. N Engl J Med 2008; 358:1483-1494.
2. Asher MI, Montefort S, Bjorksten B, et al. Worldwide time trends in the prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and eczema in childhood: ISAAC Phases One and Three repeat multicountry cross-sectional surveys. Lancet 2006; 368:733-743.
3. Moore MM, Rifas-Shiman SL, Rich-Edwards JW, et al. Perinatal predictors of atopic dermatitis occurring in the first six months of life. Pediatrics 2004; 113:468-474.
4. Dold S, Wjst M, von Mutius E, et al. Genetic risk for asthma, allergic rhinitis, and atopic dermatitis. Arch Dis Child 1992; 67:1018-1022.
5. Esparza-Gordillo J, Weidinger S, Folster-Holst R, et al. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet 2009; 41:596-601.
6. Lee YA, Wahn U, Kehrt R, et al. A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 2000; 26:470-473.
7. Cookson WO, Ubhi B, Lawrence R, et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 2001; 27:372-373.
8. Bradley M, Soderhall C, Luthman H, et al. Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population. Hum Mol Genet 2002; 11:1539-1548.
9. Haagerup A, Bjerke T, Schiotz PO, et al. Atopic dermatitis: a total genome-scan for susceptibility genes. Acta Derm Venereol 2004; 84:346-352.
10. Guilloud-Bataille M, Bouzigon E, Annesi-Maesano I, et al. Evidence for linkage of a new region (11 p14) to eczema and allergic diseases. Hum Genet 2008; 122:605-614.
11. Enomoto H, Noguchi E, Iijima S, et al. Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families. BMC Dermatol 2007; 7:5.
12. Soderhall C, Marenholz I, Kerscher T, et al. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol 2007; 5:e242.
13. Castro-Giner F, Bustamante M, Ramon GJ, et al. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). BMC Med Genet 2009; 10:128.
14. Barnes KC. An update on the genetics of atopic dermatitis: scratching the surface in 2009. J Allergy Clin Immunol 2010; 125:16-29.
15. Most recent systematic review on genetic risk factors underlying eczema. Prado-Montes dO, Garcia-Vargas A, Lozano-Inocencio R, et al. Association of beta-defensin 1 single nucleotide polymorphisms with atopic dermatitis. Int Arch Allergy Immunol 2007; 142:211-218.
16. Kim E, Lee JE, Namkung JH, et al. Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. J Dermatol Sci 2009; 54:25-30.
17. Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38:441-446.
18. O'Regan GM, Sandilands A, McLean WH, Irvine AD. Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2009; 124:R2-R6.
19. This review highlights recent advances in the understanding of the effect of filaggrin mutations in eczema and related complex diseases. Walley AJ, Chavanas S, Moffatt MF, et al. Gene polymorphism in Netherton and common atopic disease. Nat Genet 2001; 29:175-178.
20. Kato A, Fukai K, Oiso N, et al. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. Br J Dermatol 2003; 148:665-669.
21. NishioY, Noguchi E, Shibasaki M, et al. Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese. Genes Immun 2003; 4:515-517.
22. Genuneit J, Cantelmo JL, Weinmayr G, et al. A multicentre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2. Clin Exp Allergy 2009; 39:1875-1888.
23. O'Regan GM, Campbell LE, Cordell HJ, et al. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol 2010; 125:170-174.
24. First independent study replicating the 11q13 locus identified in the GWAS for eczema. Nickel RG, Casolaro V, Wahn U, et al. Atopic dermatitis is associated with a functional mutation in the promoter of the C-Cchemokine RANTES. J Immunol 2000; 164:1612-1616.
25. Tanaka K, Roberts MH, Yamamoto N, et al. Upregulating promoter polymorphisms of RANTES relate to atopic dermatitis. Int J Immunogenet 2006; 33:423-428.
26. Gern JE, Reardon CL, Hoffjan S, et al. Effects of dog ownership and genotype on immune development and atopy in infancy. J Allergy Clin Immunol 2004; 113:307-314.
27. Litonjua AA, Belanger K, Celedon JC, et al. Polymorphisms in the 5' region of the CD14 gene are associated with eczema in young children. J Allergy Clin Immunol 2005; 115:1056-1062.
28. Lange J, Heinzmann A, Zehle C, Kopp M. CT genotype of promotor polymorphism C159T in the CD14 gene is associated with lower prevalence of atopic dermatitis and lower IL-13 production. Pediatr Allergy Immunol 2005; 16:456-457.
29. Simpson A, John SL, Jury F, et al. Endotoxin exposure, CD14, and allergic disease: an interaction between genes and the environment. Am J Respir Crit Care Med 2006; 174:386-392.
30. Mao XQ, Shirakawa T, Yoshikawa T, et al. Association between genetic variants of mast-cell chymase and eczema. Lancet 1996; 348:581-583.
31. Tanaka K, Sugiura H, Uehara M, et al. Association between mast cell chymase genotype and atopic eczema: comparison between patients with atopic eczema alone and those with atopic eczema and atopic respiratory disease. Clin Exp Allergy 1999; 29:800-803.
32. Weidinger S, Rummler L, Klopp N, et al. Association study of mast cell chymase polymorphisms with atopy. Allergy 2005; 60:1256-1261.
33. Chae SC, Song JH, Lee YC, et al. The association of the exon 4 variations of Tim-1 gene with allergic diseases in a Korean population. Biochem Biophys Res Commun 2003; 312:346-350.
34. Graves PE, Siroux V, Guerra S, et al. Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain-IL-2-inducible T-cell kinase gene cluster in chromosome 5 q 33. J Allergy Clin Immunol 2005; 116:650-656.
35. Page NS, Jones G, Stewart GJ. Genetic association studies between the T cell immunoglobulin mucin (TIM) gene locus and childhood atopic dermatitis. Int Arch Allergy Immunol 2006; 141:331-336.
36. Kawashima T, Noguchi E, Arinami T, et al. Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families. J Med Genet 1998; 35:502-504.
37. He JQ, Chan-Yeung M, Becker AB, et al. Genetic variants of the IL13 and IL4 genes and atopic diseases in at-risk children. Genes Immun 2003; 4:385-389.
38. Oiso N, Fukai K, Ishii M. Interleukin 4 receptor alpha chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan. Br J Dermatol 2000; 142:1003-1006.
39. Callard RE, Hamvas R, Chatterton C, et al. An interaction between the IL-4Ralpha gene and infection is associated with atopic eczema in young children. Clin Exp Allergy 2002; 32:990-993.
40. Hosomi N, Fukai K, Oiso N, et al. Polymorphisms in the promoter of the interleukin-4 receptor alpha chain gene are associated with atopic dermatitis in Japan. J Invest Dermatol 2004; 122:843-845.
41. Liu X, Nickel R, Beyer K, et al. An IL13 coding region variant is associated with a high total serum IgE level and atopic dermatitis in the German multicenter atopy study (MAS-90). J Allergy Clin Immunol 2000; 106:167-170.
42. Tsunemi Y, Saeki H, Nakamura K, et al. Interleukin-12 p40 gene (IL12B) 3-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris. J Dermatol Sci 2002; 30:161-166.
43. Hummelshoj T, Bodtger U, Datta P, et al. Association between an interleukin-13 promoter polymorphism and atopy. Eur J Immunogenet 2003; 30:355-359.
44. Novak N, Kruse S, Potreck J, et al. Single nucleotide polymorphisms of the IL18 gene are associated with atopic eczema. J Allergy Clin Immunol 2005; 115:828-833.
45. Kim E, Lee JE, Namkung JH, et al. Association of the single-nucleotide polymorphism and haplotype of the interleukin 18 gene with atopic dermatitis in Koreans. Clin Exp Allergy 2007; 37:865-871.
46. Trzeciak M, Glen J, Roszkiewicz J, Nedoszytko B. Association of single nucleotide polymorphism of interleukin-18 with atopic dermatitis. J Eur Acad Dermatol Venereol 2010; 24:78-79.
47. Ahmad-Nejad P, Mrabet-Dahbi S, Breuer K, et al. The toll-like receptor 2 R753Q polymorphism defines a subgroup of patients with atopic dermatitis having severe phenotype. J Allergy Clin Immunol 2004; 113:565-567.
48. Oh DY, Schumann RR, Hamann L, et al. Association of the toll-like receptor 2 A-16934T promoter polymorphism with severe atopic dermatitis. Allergy 2009; 64:1608-1615.
49. Smith FJ, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38:337-342.
50. Henderson J, Northstone K, Lee SP, et al. The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 2008; 121:872-877.
51. Marenholz I, Nickel R, Ruschendorf F, et al. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J Allergy Clin Immunol 2006; 118:866-871.
52. Weidinger S, O'Sullivan M, Illig T, et al. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol 2008; 121:1203-1209.
53. McLean WH, Palmer CN, Henderson J, et al. Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol 2008; 121:1294-1295; author reply 1295-1296; Epub 2008 Apr 8.
54. Bisgaard H, Simpson A, PalmerCN, et al. Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure. PLoS Med 2008; 5:e131.
55. Schuttelaar ML, Kerkhof M, Jonkman MF, et al. Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure. Allergy 2009; 64:1758-1765.
56. Gao PS, Rafaels NM, Hand T, et al. Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum. J Allergy Clin Immunol 2009; 124:507-513; 513.
57. International HapMap Consortium. The International HapMap Project. Nature 2003; 426:789-796.
58. 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.
59. Schreiber S, Rosenstiel P, Albrecht M, et al. Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet 2005; 6:376-388.
60. Baron S, Turck D, Leplat C, et al. Environmental risk factors in paediatric inflammatory bowel diseases: a population based case control study. Gut 2005; 54:357-363.
61. AltinisikJ, Karateke A, Coksuer H, et al. Expression of EMSYgene in sporadic ovarian cancer. Mol Biol Rep 2010. [Epub ahead of print]
62. Brown LA, Irving J, Parker R, et al. Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas. Gynecol Oncol 2006; 100:264-270.
63. Hughes-Davies L, Huntsman D, Ruas M, et al. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell 2003; 115:523-535.
64. Raouf A, Brown L, Vrcelj N, et al. Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY. J Natl Cancer Inst 2005; 97:1302-1306.
65. Wang R, Kozhaya L, Mercer F, et al. Expression of GARP selectively identifies activated human FOXP3+ regulatory T cells. Proc Natl Acad Sci USA 2009; 106:13439-13444.
66. Dixon AL, Liang L, Moffatt MF, et al. A genome-wide association study of global gene expression. Nat Genet 2007; 39:1202-1207.
67. 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.
68. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461:747-753.
69. Ekelund E, Saäf A, Tengvall-Linder M, et al. Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis. Am J Hum Genet 2006; 78:1060-1065.
70. Cookson W, Liang L, Abecasis G, et al. Mapping complex disease traits with global gene expression. Nat Rev Genet 2009; 10:184-194.
71. Moffatt MF, Kabesch M, Liang L, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007; 448:470-473.
72. Verlaan DJ, Ge B, Grundberg E, et al. Targeted screening of cis-regulatory variation in human haplotypes. Genome Res 2009; 19:118-127.
73. Zhernakova A, Van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009; 10:43-55.
74. Wang K, Zhang H, Kugathasan S, et al. Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet 2009; 84:399-405.
75. Schulz F, Marenholz I, Folster-Holst R, et al. A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema. J Allergy Clin Immunol 2007; 120:1097-1102.
76. Moffatt MF, Cookson WO. The genetics of asthma. Maternal effects in atopic disease. Clin Exp Allergy 1998; 28 (Suppl 1):56-61.
77. Conrad ML, Ferstl R, Teich R, et al. Maternal TLR signaling is required for prenatal asthma protection by the nonpathogenic microbe Acinetobacter lwoffii F78. J Exp Med 2009; 206:2869-2877.
78. Hollingsworth JW, Maruoka S, Boon K, et al. In utero supplementation with methyl donors enhances allergic airway disease in mice. J Clin Invest 2008; 118:3462-3469.
79. Verhasselt V, Milcent V, Cazareth J, et al. Breast milk-mediated transfer of an antigen induces tolerance and protection from allergic asthma. Nat Med 2008; 14:170-175.
80. Traherne JA, Hill MR, Hysi P, et al. LD mapping of maternally and nonmater-nally derived alleles and atopy in FcepsilonRI-beta. Hum Mol Genet 2003; 12:2577-2585.
81. Kong A, Steinthorsdottir V, Masson G, et al. Parental origin of sequence variants associated with complex diseases. Nature 2009; 462:868-874.
82. Wallace C, Smyth DJ, Maisuria-Armer M, et al. The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. Nat Genet 2010; 42:68-71.