603
Views
109
CrossRef citations to date
0
Altmetric
Research Article

Two SNPs in NLRP3 gene are involved in the predisposition to type-1 diabetes and celiac disease in a pediatric population from northeast Brazil

, , , , &
Pages 583-589 | Received 25 Aug 2009, Accepted 07 Dec 2009, Published online: 07 Apr 2010

References

  • Martinon F, Mayor A, Tschopp J. The inflammasomes: Guardians of the body. Annu Rev Immunol. 2009; 27:229–265.
  • Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Söderkvist P, Särndahl E. Gene polymorphisms in the NLRP3 inflammasome are associated with interleukin-1 production and severe inflammation. Arthritis Rheum. 2008; 58 3: 888–894.
  • Kastbom A, Johansson M, Verma D, Söderkvist P, Rantapää-Dahlqvist S. The CARD8 p.C10X polymorphism associates with the inflammatory activity in early rheumatoid arthritis. Ann Rheum Dis. 2009 May 13 [Epub ahead of print].
  • Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C, Baba N, Libioulle C, Belaiche J, Bitton A, Gaudet D, Cohen A, Langelier D, Fortin PR, Wither JE, Sarfati M, Rutgeerts P, Rioux JD, Vermeire S, Hudson TJ, Franchimont D. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet. 2009; 41 1: 71–76.
  • Omi T, Kumada M, Kamesaki T, Okuda H, Munkhtulga L, Yanagisawa Y, Utsumi N, Gotoh T, Hata A, Soma M, Umemura S, Ogihara T, Takahashi N, Tabara Y, Shimada K, Mano H, Kajii E, Miki T, Iwamoto S. An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension. Eur J Hum Genet. 2006; 14 12: 1295–1305.
  • Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NLRP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007; 356:1216–1225.
  • Jin Y, Birlea SA, Fain PR, Spritz RA. Genetic variations in NLRP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol. 2007; 127:2558–2562.
  • Magitta NF, Bøe Wolff AS, Johansson S, Skinningsrud B, Lie BA, Myhr KM, Undlien DE, Joner G, Njølstad PR, Kvien TK, Førre Ø, Knappskog PM, Husebye ES. A coding polymorphism in NLRP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes Immun. 2009; 10 2: 120–124.
  • Hitomi Y, Ebisawa M, Tomikawa M, Imai T, Komata T, Hirota T, Harada M, Sakashita M, Suzuki Y, Shimojo N, Kohno Y, Fujita K, Miyatake A, Doi S, Enomoto T, Taniguchi M, Higashi N, Nakamura Y, Tamari M. Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma. J Allergy Clin Immunol. 2009; 124 4: 779–85.e6.
  • Hanifin JM, Rajka G. Diagnostic features of atopic dermatitis. Acta Derm Venereol (Stockh). 1980; 92:4.
  • Consensus report of the European task force on atopic dermatitis. Severity scoring of atopic dermatitis: The scorad index. Dermatology. 1993; 186:23–31.
  • Cox DG, Canzian F. Genotype transposer: Automated genotype manipulation for linkage disequilibrium analysis. Bioinformatics. 2001; 17 8: 738–739.
  • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics. 2005; 21:263–265.
  • Alves-Silva J, da Silva Santos M, Guimarães PE, Ferreira AC, Bandelt HJ, Pena SD, Prado VF. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet. 2000; 67 2: 444–461.
  • O'Sullivan BJ, Thomas HE, Pai S, Santamaria P, Iwakura Y, Steptoe RJ, . IL-1 β breaks tolerance through expansion of CD25+ effector T cells. J Immunol. 2006; 176 12: 7278–7287.
  • Mollah ZU, Pai S, Moore C, O'Sullivan BJ, Harrison MJ, Peng J, Phillips K, Prins JB, Cardinal J, Thomas R. Abnormal NF-kappa B function characterizes human type 1 diabetes dendritic cells and monocytes. J Immunol. 2008; 180 5: 3166–3175.
  • Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD. Fine structure mapping of CIAS1: Identification of an ancestral haplot ype and a common FCAS mutation, L353P. Hum Genet. 2003; 112:209–216.
  • Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007; 56 4: 1273–1285.
  • Caroli F, Pontillo A, D'Osualdo A, Travan L, Ceccherini I, Crovella S, . Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford). 2007; 46 3: 473–478.
  • Shaker M, Edwards S, Chionuma H, Shamansky E, Hoffman HM. Association between celiac sprue and cryopyrin associated autoinflammatory disorders: A case report. Pediatr Rheumatol Online J. 2007; 5:12.
  • Garner CP, Ding YC, Steele L, Book L, Leiferman K, Zone JJ, Neuhausen SL. Genome-wide linkage analysis of 160 North American families with celiac disease. Genes Immun. 2007; 8 2: 108–114.
  • Rioux JD, Karinen H, Kocher K, McMahon SG, Kärkkäinen P, Janatuinen E, Heikkinen M, Julkunen R, Pihlajamäki J, Naukkarinen A, Kosma VM, Daly MJ, Lander ES, Laakso M. Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci. Am J Med Genet A. 2004; 130:345–350.
  • van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, . A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet. 2007; 39 7: 827–829.
  • Kummer JA, Broekhuizen R, Everett H, Agostini L, Kuijk L, Martinon F, van Bruggen R, Tschopp J. Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. J Histochem Cytochem. 2007; 55 5: 443–452.
  • Macaluso F, Nothnagel M, Parwez Q, Petrasch-Parwez E, Bechara FG, Epplen JT, Hoffjan S. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. Exp Dermatol. 2007; 16:692–698.
  • Miceli-Richard C, Lesage S, Rybojad M, Prieur A-M, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot J-P. CARD15 mutations in Blau syndrome. Nature Genet. 2001; 29:19–20.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.