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  • 1
    Maintz L, Novak N. Getting more and more complex: the pathophysiology of atopic eczema. Eur J Dermatol 2007; 17: 26783.
  • 2
    Cookson WO. The genetics of atopic dermatitis: strategies, candidate genes, and genome screens. J Am Acad Der-matol 2001; 45: S7S9.
  • 3
    Edfors-Lubs ML. Allergy in 7000 twin pairs. Acta Allergol 1971; 26: 24985.
  • 4
    Larsen FS, Holm NV, Henningsen K. Atopic dermatitis. A genetic-epidemiologic study in a population-based twin sample. J Am Acad Dermatol 1986; 15: 48794.
  • 5
    Schultz Larsen FV, Holm NV. Atopic dermatitis in a population based twin series. Concordance rates and heritability estimation. Acta Derm Venereol Suppl (Stockh) 1985; 114: 159.
  • 6
    Strachan DP, Wong HJ, Spector TD. Concordance and interrelationship of atopic diseases and markers of allergic sensitization among adult female twins. J Allergy Clin Immunol 2001; 108: 9017.
  • 7
    Barnes KC. An update on the genetics of atopic dermatitis: scratching the surface in 2009. J Allergy Clin Immunol 2010; 125: 1629.
  • 8
    Enomoto H, Noguchi E, Iijima S, Takahashi T, Hayakawa K, Ito M, Kano T, Aoki T, Suzuki Y, Koga M, Tamari M, Shiohara T, Otsuka F, Arinami T. Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families. BMC Dermatol 2007; 7: 5.
  • 9
    Bradley M, Soderhall C, Wahlgren C F, Luthman H, Nordenskjold M, Kockum I. The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis. Acta Derm Venereol 2001; 81: 3402.
  • 10
    Christensen U, Moller-Larsen S, Nyegaard M, Haagerup A, Hedemand A, Brasch-Andersen C, Kruse TA, Corydon TJ, Deleuran M, Borglum AD. Linkage of atopic dermatitis to chromosomes 4q22, 3p24 and 3q21. Hum Genet 2009; 126: 54957.
  • 11
    Guilloud-Bataille M, Bouzigon E, nnesi-Maesano I, Bousquet J, Charpin D, Gormand F, Hochez J, Just J, Lemainque A, Le MN, Matran R, Neukirch F, Oryszczyn MP, Paty E, Pin I, Vervloet D, Kauffmann F, Lathrop M, Demenais F, Dizier MH. Evidence for linkage of a new region (11p14) to eczema and allergic diseases. Hum Genet 2008; 122: 60514.
  • 12
    Haagerup A, Bjerke T, Schiotz PO, Dahl R, Binderup HG, Tan Q, Kruse TA. Atopic dermatitis – a total genomescan for susceptibility genes. Acta Derm Venereol 2004; 84: 34652.
  • 13
    Esparza-Gordillo J, Weidinger S, Folster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illig T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee Ya, Ruether A. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet 2009; 41: 596601.
  • 14
    O’Regan GM, Campbell LE, Cordell HJ, Irvine AD, McLean WH, Brown SJ. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol 2010; 125: 1704.
  • 15
    Rodriguez E, Baurecht H, Herberich E, Wagenpfeil S, Brown SJ, Cordell HJ, Irvine AD, Weidinger S. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol 2009; 123: 136170.
  • 16
    Strid J, Strobel S. Skin barrier dysfunction and systemic sensitization to allergens through the skin. Curr Drug Targets Inflamm Allergy 2005; 4(5): 53141.
  • 17
    Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, de PY, Hovnanian A. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000; 25: 1412.
  • 18
    Folster-Holst R, Stoll M, Koch WA, Hampe J, Christophers E, Schreiber S. Lack of association of SPINK5 polymorphisms with nonsyndromic atopic dermatitis in the population of Northern Germany. Br J Dermatol 2005; 152: 13657.
  • 19
    Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, Chen H, Rodriguez E, O’Regan GM, Watson R, Liao H, Zhao Y, Barker JN, Allen M, Reynolds N, Meggitt S, Northstone K, Smith GD, Strobl C, Stahl C, Kneib T, Klopp N, Bieber T, Behrendt H, Palmer CN, Wichmann HE, Ring J, Illig T, McLean WH, Irvine AD. Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol 2008; 122: 5608.
  • 20
    O’Regan GM, Sandilands A, McLean WH, Irvine AD. Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2008; 122(4): 68993.
  • 21
    Candi E, Schmidt R, Melino G. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 2005; 6: 32840.
  • 22
    Mildner M, Jin J, Eckhart L, Kezic S, Gruber F, Barresi C, Stremnitzer C, Buchberger M, Mlitz V, Ballaun C, Sterniczky B, Fodinger D, Tschachler E. Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model. J Invest Dermatol 2010; 130: 228694.
  • 23
    O’Regan GM, Irvine AD. The role of filaggrin in the atopic diathesis. Clin Exp Allergy 2010; 40: 96572.
  • 24
    Jungersted JM, Scheer H, Mempel M, Baurecht H, Cifuentes L, Hogh JK, Hellgren LI, Jemec GB, Agner T, Weidinger S. Stratum corneum lipids, skin barrier function and filaggrin mutations in patients with atopic eczema. Allergy 2010; 65: 9118.
  • 25
    Fallon PG, Sasaki T, Sandilands A, Campbell LE, Saunders S P, Mangan NE, Callanan JJ, Kawasaki H, Shiohama A, Kubo A, Sundberg J P, Presland RB, Fleckman P, Shimizu N, Kudoh J, Irvine AD, Amagai M, McLean WH. A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 2009; 41: 6028.
  • 26
    Novak N, Baurecht H, Schafer T, Rodriguez E, Wagenpfeil S, Klopp N, Heinrich J, Behrendt H, Ring J, Wichmann E, Illig T, Weidinger S. Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel. J Invest Dermatol 2008; 128: 14305.
  • 27
    Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O’Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38: 337– 42.
  • 28
    Baurecht H, Irvine AD, Novak N, Illig T, Buhler B, Ring J, Wagenpfeil S, Weidinger S. Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol 2007; 120: 140612.
  • 29
    Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A. Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. J Eur Acad Dermatol Venereol 2010; 24: 60710.
  • 30
    Weidinger S, Rodriguez E, Stahl C, Wagenpfeil S, Klopp N, Illig T, Novak N. Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. J Invest Dermatol 2007; 127: 7246.
  • 31
    Bisgaard H, Simpson A, Palmer CN, Bonnelykke K, McLean I, Mukhopad-hyay S, Pipper CB, Halkjaer LB, Lipworth B, Hankinson J, Woodcock A, Custovic A. 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.
  • 32
    Schuttelaar ML, Kerkhof M, Jonkman MF, Koppelman GH, Brunekreef B, de Jongste JC, Wijga A, McLean WH, Postma DS. Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure. Allergy 2009; 64: 175865.
  • 33
    Cramer C, Link E, Horster M, Koletzko S, Bauer C P, Berdel D, von BA, Lehmann I, Herbarth O, Borte M, Schaaf B, Behrendt H, Chen CM, Sausenthaler S, Illig T, Wichmann HE, Heinrich J, Kramer U. Elder siblings enhance the effect of filaggrin mutations on childhood eczema: results from the 2 birth cohort studies LISAplus and GINIplus. J Allergy Clin Immunol 2010; 125: 125460.
  • 34
    Henderson J, Northstone K, Lee S P, Liao H, Zhao Y, Pembrey M, Mukho-padhyay S, Smith GD, Palmer CN, McLean WH, Irvine AD. The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 2008; 121: 8727.
  • 35
    Gao PS, Rafaels NM, Hand T, Murray T, Boguniewicz M, Hata T, Schneider L, Hanifin JM, Gallo RL, Gao L, Beaty TH, Beck LA, Barnes KC, Leung DY. Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum. J Allergy Clin Immunol 2009; 124: 50713.
  • 36
    Soderhall C, Marenholz I, Kerscher T, Ruschendorf F, Esparza-Gordillo J, Worm M, Gruber C, Mayr G, Albrecht M, Rohde K, Schulz H, Wahn U, Hubner N, Lee YA. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol 2007; 5: e242.
  • 37
    Harazin M, Parwez Q, Petrasch-Parwez E, Epplen JT, Arinir U, Hoffjan S, Stemmler S. Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease. J Dermatol 2010; 37: 7402.
  • 38
    Weidinger S, Klopp N, Rummler L, Wagenpfeil S, Baurecht HJ, Gauger A, Darsow U, Jakob T, Novak N, Schafer T, Heinrich J, Behrendt H, Wichmann HE, Ring J, Illig T. Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults. Clin Exp Allergy 2005; 35: 86672.
  • 39
    Mrabet-Dahbi S, Dalpke AH, Niebuhr M, Frey M, Draing C, Brand S, Heeg K, Werfel T, Renz H. The Toll-like receptor 2 R753Q mutation modifies cytokine production and Toll-like receptor expression in atopic dermatitis. J Allergy Clin Immunol 2008; 121: 10139.
  • 40
    Niebuhr M, Langnickel J, Sigel S, Werfel T. Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with atopic dermatitis and the TLR2 R753Q polymorphism. Exp Dermatol 2010; 19: e296–e298.
  • 41
    Amad-Nejad P, Mrabet-Dahbi S, Breuer K, Klotz M, Werfel T, Herz U, Heeg K, Neumaier M, Renz H. The toll-like receptor 2 R753Q polymorphism defines a subgroup of patients with atopic dermatitis having severe phenotype. J Allergy Clin Immunol 2004; 113: 5657.
  • 42
    Oh DY, Schumann RR, Hamann L, Neumann K, Worm M, Heine G. Association of the toll-like receptor 2 A-16934T promoter polymorphism with severe atopic dermatitis. Allergy 2009; 64: 160815.
  • 43
    Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006; 118: 2149.
  • 44
    Novak N, Yu CF, Bussmann C, Maintz L, Peng WM, Hart J, Hagemann T, az-Lacava A, Baurecht HJ, Klopp N, Wagenpfeil S, Behrendt H, Bieber T, Ring J, Illig T, Weidinger S. Putative association of a TLR9 promoter polymorphism with atopic eczema. Allergy 2007; 62: 76672.
  • 45
    Novak N, Kruse S, Kraft S, Geiger E, Kluken H, Fimmers R, Deichmann KA, Bieber T. Dichotomic nature of atopic dermatitis reflected by combined analysis of monocyte immunophenotyping and single nucleotide polymorphisms of the interleukin-4/interleukin-13 receptor gene: the dichotomy of extrinsic and intrinsic atopic dermatitis. J Invest Dermatol 2002; 119: 8705.
  • 46
    He JQ, Chan-Yeung M, Becker AB, mich-Ward H, Ferguson AC, Manfreda J, Watson W T, Sandford AJ. Genetic variants of the IL13 and IL4 genes and atopic diseases in at-risk children. Genes Immun 2003; 4: 3859.
  • 47
    Liu X, Nickel R, Beyer K, Wahn U, Ehrlich E, Freidhoff LR, Bjorksten B, Beaty TH, Huang SK. 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(1 Pt 1): 16770.
  • 48
    Tsunemi Y, Saeki H, Nakamura K, Sekiya T, Hirai K, Kakinuma T, Fujita H, Asano N, Tanida Y, Wakugawa M, Torii H, Tamaki K. Interleukin-13 gene polymorphism G4257A is associated with atopic dermatitis in Japanese patients. J Dermatol Sci 2002; 30: 1007.
  • 49
    Weidinger S, Klopp N, Wagenpfeil S, Rummler L, Schedel M, Kabesch M, Schafer T, Darsow U, Jakob T, Behrendt H, Wichmann HE, Ring J, Illig T. Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults. J Med Genet 2004; 41: 65863.
  • 50
    Schedel M, Carr D, Klopp N, Woitsch B, Illig T, Stachel D, Schmid I, Fritzsch C, Weiland SK, von ME, Kabesch M. A signal transducer and activator of transcription 6 haplotype influences the regulation of serum IgE levels. J Allergy Clin Immunol 2004; 114: 11005.
  • 51
    Weidinger S, Gieger C, Rodriguez E, Baurecht H, Mempel M, Klopp N, Gohlke H, Wagenpfeil S, Ollert M, Ring J, Behrendt H, Heinrich J, Novak N, Bieber T, Krämer U, Berdel D, von Berg A, Bauer C P, Herbarth O, Koletzko S, Prokisch H, Mehta D, Meitinger T, Depner M, von Mutius E, Liang L, Moffatt M, Cookson W, Kabesch M, Wichmann HE, Illig T. Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus. PLoS Genet 2008; 4: e1000166.
  • 52
    Chen CM, Weidinger S, Klopp N, Sausenthaler S, Bischof W, Herbarth O, Bauer M, Borte M, Schaaf B, Lehmann I, Behrendt H, Kramer U, Berdel D, von BA, Bauer C P, Koletzko S, Illig T, Wichmann HE, Heinrich J. Common variants in FCER1A influence total serum IgE levels from cord blood up to six years of life. Allergy 2009; 64: 132732.
  • 53
    Mahachie John JM, Baurecht H, Rodriguez E, Naumann A, Wagenpfeil S, Klopp N, Mempel M, Novak N, Bieber T, Wichmann HE, Ring J, Illig T, Cattaert T, Van SK, Weidinger S. Analysis of the high affinity IgE receptor genes reveals epistatic effects of FCER1A variants on eczema risk. Allergy 2010; 65: 87582.
  • 54
    Kennedy MJ, Loehle JA, Griffin AR, Doll MA, Kearns GL, Sullivan JE, Hein DW. Association of the histamine N-methyltransferase C314T (Thr105Ile) polymorphism with atopic dermatitis in Caucasian children. Pharmacotherapy 2008; 28: 1495501.
  • 55
    Yu B, Shao Y, Zhang J, Dong XL, Liu WL, Yang H, Liu L, Li MH, Yue CF, Fang ZY, Zhang C, Hu X P, Chen BC, Wu Q, Chen YW, Zhang W, Wan J. Polymorphisms in human histamine receptor H4 gene are associated with atopic dermatitis. Br J Dermatol 2010; 162: 103843.
  • 56
    Naumann A, Söderhäll C, Fölster-Holst R, Baurecht H, Harde V, Müller-Wehling K, Rodríguez E, Ruether A, Franke A, Wagenpfeil S, Novak N, Mempel M, Kalali BN, Allgaeuer M, Koch J, Gerhard M, Melén E, Wahlgren C F, Kull I, Stahl C, Pershagen G, Lauener R, Riedler J, Doekes G, Scheynius A, Illig T, von Mutius E, Schreiber S, Kere J, Kabesch M, Weidinger S. A comprehensive analysis of the COL29A1 gene does not support a role in eczema. J Allergy Clin Immunol 2011; DOI: 10.1016/j.jaci.2010.12.1123.