Filaggrin loss-of-function variants are associated with atopic comorbidity in pediatric inflammatory bowel disease

Inflammatory Bowel Diseases

Volumn 15, Issue 10, 2009, Pages 1492-1498

  Van Limbergen, J ^a,b   Russell, R K ^c   Nimmo, E R ^a   Zhao, Y ^d   Liao, H ^e   Drummond, H E ^a   Davies, G ^a   Gillett, P M ^b   McGrogan, P ^d   Bisset, W M ^e   Mahdi, G ^e   Wilson, D C ^a,b   Brown, S J ^f   McLean, W H I ^d   Satsangi, J ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e ROYAL ABERDEEN CHILDREN S HOSPITAL   (United Kingdom)

^f ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Asthma; Eczema; Filaggrin; Inflammatory bowel disease; Pediatrics

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; FILAGGRIN;

ALLERGIC RHINITIS; ARTICLE; ASTHMA; ATOPY; BODY MASS; CHILD; COMORBIDITY; CONTROLLED STUDY; CROHN DISEASE; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ECZEMA; ENTERITIS; FOOD ALLERGY; GENE DELETION; GENE FREQUENCY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAY FEVER; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NULL ALLELE; ONSET AGE; PEDIATRICS; PRIORITY JOURNAL; PROTEIN FUNCTION; ULCERATIVE COLITIS;

ADOLESCENT; ASTHMA; CASE-CONTROL STUDIES; CHILD; COHORT STUDIES; COMORBIDITY; ECZEMA; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HUMANS; HYPERSENSITIVITY; INFLAMMATORY BOWEL DISEASES; INTERMEDIATE FILAMENT PROTEINS; MALE;

EID: 70450191414     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.20926     Document Type: Article

References (58)

1. Kim SC, Ferry GD. Inflammatory bowel diseases in pediatric and adolescent patients: clinical, therapeutic, and psychosocial considerations. Gastroenterology. 2004;126:1550-1560. (Pubitemid 38649872)
2. Stone MA, Mayberry JF, Baker R. Prevalence and management of inflammatory bowel disease: a cross-sectional study from central England. Eur J Gastroenterol Hepatol. 2003;15:1275-1280. (Pubitemid 39049669)
3. Griffiths AM. Specificities of inflammatory bowel disease in childhood. Best Pract Res Clin Gastroenterol. 2004;18:509-523. (Pubitemid 38667463)
4. Armitage EL, Aldhous MC, Anderson N, et al. Incidence of juvenile-onset Crohn's disease in Scotland: association with northern latitude and affluence. Gastroenterology. 2004;127:1051-1057. (Pubitemid 39345874)
5. Sawczenko A, Sandhu BK, Logan RFA, et al. Prospective survey of childhood inflammatory bowel disease in the British Isles. Lancet. 2001;357:1093-1094. (Pubitemid 32322542)
6. Van Limbergen J, Russell RK, Nimmo ER, et al. Genetics of the innate immune response in inflammatory bowel disease. Inflamm Bowel Dis. 2007;13:338-355. (Pubitemid 46465916)
7. Van Limbergen J, Russell RK, Nimmo ER, et al. The genetics of inflammatory bowel disease. Am J Gastroenterol. 2007;102:2820-2831.
8. 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.
9. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet. 2008;40:695-701. (Pubitemid 351748875)
10. Russell RK, Drummond HE, Nimmo ER, et al. Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe disease. Inflamm Bowel Dis. 2005;11:955-964.
11. Russell RK, Drummond HE, Wilson DC, et al. Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis. Genes Immun. 2008;9:556-560.
12. Palmer CNA. 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.
13. Sandilands A, Terron-Kwiatkowski A, Hull PR, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet. 2007;39:650-654. (Pubitemid 46676107)
14. Baurecht H. Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol. 2007;120:1406-1412. (Pubitemid 350216605)
15. Smith FJD. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38:337-342. (Pubitemid 43315757)
16. Mischke D, Korge BP, Marenholz I, et al. Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol. 1996;106:989-992. (Pubitemid 26153502)
17. Cookson WO. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet. 2001;27:372-373. (Pubitemid 32268416)
18. van Heel DA, Fisher SA, Kirby A, et al. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet. 2004;13:763-770.
19. O'Regan GM, Sandilands A, McLean WHI, et al. Filaggrin in atopic dermatitis. J Allergy Clin Immunol. 2008;122:689-693.
20. McGrath JA, Uitto J. The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med. 2008;14:20-27.
21. Galli SJ, Tsai M, Piliponsky AM. The development of allergic inflammation. Nature. 2008;454:445-454.
22. Hobbs EA, Van Limbergen JE, Russell RK, et al. A detailed investigation into epidemiological risk factors for childhood onset inflammatory bowel disease in scotland. Gut. 2008;57:A150-A151.
23. Bernstein CN, Wajda A, Blanchard JF. The clustering of other chronic inflammatory diseases in inflammatory bowel disease: a population-based study. Gastroenterology. 2005;129:827-836. (Pubitemid 41242675)
24. Feeney MA, Murphy F, Clegg AJ, et al. A case-control study of childhood environmental risk factors for the development of inflammatory bowel disease. Eur J Gastroenterol Hepatol. 2002;14:529-534. (Pubitemid 34518185)
25. Gilat T, Hacohen D, Lilos P, et al. Childhood factors in ulcerative colitis and Crohn's disease. An international cooperative study. Scand J Gastroenterol. 1987;22:1009-1024. (Pubitemid 17152843)
26. Lennard-Jones JE. Classification of inflammatory bowel disease. Scand J Gastroenterol. 1989;24:2-6.
27. Silverberg MS, Satsangi J, Ahmad T, et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol. 2005;19:5A-36A.
28. Van Limbergen J, Russell RK, Drummond HE, et al. Definition of phenotypic characteristics of childhood-onset inflammatory bowel disease. Gastroenterology. 2008;135:1114-1122.
29. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
30. Gauderman WJ. Candidate gene association studies for a quantitative trait, using parent-offspring trios. Genet Epidemiol. 2003;25:327-338.
31. Gauderman WJ, Morrison JM. QUANTO 1.1: A computer program for power and sample size calculations for genetic epidemiology studies. 2006 http://hydra.usc.edu/gxe
32. Armitage E, Drummond HE, Wilson DC, et al. Increasing incidence of both juvenile-onset Crohn's disease and ulcerative colitis in Scotland. Eur J Gastroenterol Hepatol. 2001;13:1439-1447. (Pubitemid 33151496)
33. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575. (Pubitemid 47330214)
34. Ruether A, Stoll M, Schwarz T, et al. Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany. Br J Dermatol. 2006;155:1093-1094. (Pubitemid 44564539)
35. Huffmeier U, Boiers U, Lascorz J, et al. Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis. Ann Rheum Dis. 2008;67:131-133.
36. Giardina E, Paolillo N, Sinibaldi C, et al. R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients. Dermatology. 2008;216:83-84. (Pubitemid 350158743)
37. Zhao Y, Terron-Kwiatkowski A, Liao H, et al. Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol. 2007;127:1878-1882. (Pubitemid 47075371)
38. Szekanecz Z, Soos L, Szabo Z, et al. Anti-citrullinated protein antibodies in rheumatoid arthritis: as good as it gets? Clin Rev Allergy Immunol. 2008;34:26-31.
39. Weichenthal M, Ruether A, Schreiber S, et al. Filaggrin R501X and 2282del4 mutations are not associated with chronic plaque-type psoriasis in a German cohort. J Invest Dermatol. 2007;127:1535-1537. (Pubitemid 46763002)
40. Palmer CN. 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.
41. Palmer CN. Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol. 2007;120:64-68.
42. McLean WH, Palmer CN, Henderson J, et al. Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol. 2008;121:1294-1295.
43. Marenholz I. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J Allergy Clin Immunol. 2006;118:866-871. (Pubitemid 44498766)
44. 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.
45. Nomura T. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol. 2007;119:434-440. (Pubitemid 46210082)
46. Brown SJ, Sandilands A, Zhao Y, et al. Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema. J Invest Dermatol. 2008;128:1591-1594. (Pubitemid 351693196)
47. Ekelund E, Lieden A, Link J, et al. Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families. Acta Dermatovenereol. 2008;88:15-19. (Pubitemid 351212128)
48. Brown SJ, Relton CL, Liao H, et al. Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol. 2008;121:940-946.
49. Rogers AJ, Celedon JC, Lasky-Su JA, et al. Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma. J Allergy Clin Immunol. 2007;120:1332-1337. (Pubitemid 350216611)
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. Morar N, Cookson WO, Harper JI, et al. Filaggrin mutations in children with severe atopic dermatitis. J Invest Dermatol. 2007;127:1667-1672. (Pubitemid 46933399)
52. Weidinger S. Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. J Invest Dermatol. 2007;127:724-726. (Pubitemid 46271042)
53. Stemmler S, Parwez Q, Petrasch-Parwez E, et al. Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis. J Invest Dermatol. 2007;127:722-724. (Pubitemid 46271041)
54. Barker JN. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol. 2007;127:564-567.
55. Hubiche T, Ged C, Benard A, et al. Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. Acta Dermatovenereol. 2007;87:499-505.
56. Shamssain M. Trends in the prevalence and severity of asthma, rhinitis and atopic eczema in 6- to 7- and 13- to 14-yr-old children from the north-east of England. Pediatr Allergy Immunol. 2007;18:149-153. (Pubitemid 46333724)
57. De Benedetto A, Qualia CM, Baroody FM, et al. Filaggrin expression in oral, nasal, and esophageal mucosa. J Invest Dermatol. 2008;128:1594-1597. (Pubitemid 351693198)
58. Ying S, Meng Q, Corrigan CJ, et al. Lack of filaggrin expression in the human bronchial mucosa. J Allergy Clin Immunol. 2006;118:1386-1388. (Pubitemid 44854127)