Dalbeth N, Haskard D. Mechanisms of inflammation in gout. Rheumatol. 2005;44:1090–6.
Article
CAS
Google Scholar
Emmerson BT, Nagel SL, Duffy DL, Martin NG. Genetic control of the renal clearance of urate: a study of twins. Ann Rheum Dis. 1992;51:375–7.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gibson T, Waterworth R, Hatfield P, Robinson G, Bremner K. Hyperuricaemia, gout and kidney function in New Zealand Maori men. Br J Rheumatol. 1984;23:276–82.
Article
CAS
PubMed
Google Scholar
Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013;45:145–54.
Article
PubMed Central
PubMed
Google Scholar
Merriman TR, Choi HK, Dalbeth N. The genetic basis of gout. Rheum Dis Clin North Am. 2014;40:279–90.
Article
PubMed
Google Scholar
Phipps-Green A, Merriman M, Topless R, Altaf S, Montgomery G, Franklin C, et al. Twenty-eight loci that influence serum urate levels: analysis of association with gout. Ann Rheum Dis. 2014. doi:10.1136/annrheumdis-2014-205877.
Campion EW, Glynn RJ, DeLabry LO. Asymptomatic hyperuricemia. Risks and consequences in the Normative Aging Study. Am J Med. 1987;82:421–6.
Article
CAS
PubMed
Google Scholar
Shi Y, Mucsi AD, Ng G. Monosodium urate crystals in inflammation and immunity. Immunological Rev. 2010;233:203–17.
Article
CAS
Google Scholar
Ryan JG, Goldbach-Mansky R. The spectrum of autoinflammatory diseases: recent bench to bedside observations. Curr Op Rheumatol. 2008;20:66–75.
Article
Google Scholar
Liu-Bryan R, Terkeltaub R. Tophus biology and pathogenesis of monosodium urate crystal–induced inflammation. Gout and Other Crystal Arthropathies. 2011;2011:59.
Google Scholar
Duewell P, Kono H, Rayner KJ, Sirois CM, Vladimer G, Bauernfeind FG, et al. NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals. Nature. 2010;464:1357–61.
Article
PubMed Central
CAS
PubMed
Google Scholar
Martinon F, Mayor A, Tschopp J. The inflammasomes: guardians of the body. Ann Rev Immunol. 2009;27:229–65.
Article
CAS
Google Scholar
Razmara M, Srinivasula SM, Wang L, Poyet J-L, Geddes BJ, DiStefano PS, et al. CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis. J Biol Chem. 2002;277:13952–8.
Article
CAS
PubMed
Google Scholar
Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20:319–25.
Article
CAS
PubMed
Google Scholar
Ito S, Hara Y, Kubota T. CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction. Arthritis Res Ther. 2014;16:R52.
Article
PubMed Central
PubMed
Google Scholar
Paramel G, Sirsjö A, Fransén K. Role of genetic alterations in the NLRP3 and CARD8 genes in health and disease. Mediators Inflamm. 2015;2015:846782.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chen Y, Ren X, Li C, Xing S, Fu Z, Yuan Y, et al. CARD8 rs2043211 polymorphism is associated with gout in a Chinese male population. Cell Physiol Biochem. 2015;35:1394–400.
Article
CAS
PubMed
Google Scholar
Liu-Bryan R, Scott P, Sydlaske A, Rose DM, Terkeltaub R. Innate immunity conferred by Toll-like receptors 2 and 4 and myeloid differentiation factor 88 expression is pivotal to monosodium urate monohydrate crystal-induced inflammation. Arthritis Rheum. 2005;52:2936–46.
Article
CAS
PubMed
Google Scholar
Qing Y-F, Zhou J-G, Zhang Q-B, Wang D-S, Li M, Yang Q-B, et al. Association of TLR4 gene rs2149356 polymorphism with primary gouty arthritis in a case-control study. PLoS One. 2013;8:64845.
Article
Google Scholar
Meng D-M, Zhou Y-J, Wang L, Ren W, Cui L-L, Han L, et al. Polymorphisms in the NLRP3 gene and risk of primary gouty arthritis. Mol Med Rep. 2013;7:1761–6.
CAS
PubMed
Google Scholar
Winnard D, Wright C, Taylor WJ, Jackson G, Te Karu L, Gow PJ, et al. National prevalence of gout derived from administrative health data in Aotearoa New Zealand. Rheumatology (Oxford). 2012;51:901–9.
Article
Google Scholar
Kuo C-F, Grainge MJ, Zhang W, Doherty M. Global epidemiology of gout: prevalence, incidence and risk factors. Nature Rev Rheumatol. 2015. doi:10.1038/nrrhuem.2015.91.
Liote F, Merriman T, Nasi S, So A. 4th European Crystal Netrowk meeting, Paris 8-9th March 2013. Arthritis Res Ther. 2013;15:304.
Article
PubMed Central
PubMed
Google Scholar
Wallace SL, Robinson H, Masi AT, Decker JL, McCarty DJ, Yu TF. Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum. 1977;20:895–900.
Article
CAS
PubMed
Google Scholar
Stocker SL, McLachlan AJ, Savic RM, Kirkpatrick CM, Graham GG, Williams KM, et al. The pharmacokinetics of oxypurinol in people with gout. Br J Clin Pharmacol. 2012;74:477–89.
Article
PubMed Central
CAS
PubMed
Google Scholar
www.ncbi.nim.nih/gov/dbgap. The database of Genotypes and Phenotypes.
Hollis-Moffatt JE, Phipps-Green AJ, Chapman B, Jones GT, van Rij A, Gow PJ, et al. The renal urate transporter SLC17A1 locus: confirmation of association with gout. Arthritis Res Ther. 2012;14:R92.
Article
PubMed Central
CAS
PubMed
Google Scholar
Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26:2190–1.
Article
PubMed Central
CAS
PubMed
Google Scholar
Cordell HJ. Detecting gene-gene interactions that underlie human diseases. Nature Rev Genet. 2009;10:392–404.
Article
PubMed Central
CAS
PubMed
Google Scholar
Phipps-Green AJH-MJ, Dalbeth N, Merriman ME, Topless R, Gow PJ, Harrison AA, et al. A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Maori, case and control sample sets. Hum Mol Genet. 2010;19:4813–9.
Article
CAS
PubMed
Google Scholar
Roberts R, Topless R, Phipps-Green A, Gearry R, Barclay M, Merriman T. Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease. Genes Immun. 2010;11:351–6.
Article
CAS
PubMed
Google Scholar
Busso N, So A. Mechanisms of inflammation in gout. Arthritis Res Ther. 2010;12:206.
Article
PubMed Central
PubMed
Google Scholar
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs2043211.
Mathews RJ, Robinson JI, Battellino M, Wong C, Taylor JC, Eyre S, et al. Evidence of NLRP3-inflammasome activation in rheumatoid arthritis (RA); genetic variants within the NLRP3-inflammasome complex in relation to susceptibility to RA and response to anti-TNF treatment. Ann Rheum Dis. 2014;73:1202–10.
Article
CAS
PubMed
Google Scholar
Roberts RL, Van Rij AM, Phillips LV, Young S, McCormick S, Merriman TR, et al. Interaction of the inflammasome genes CARD8 and NLRP3 in abdominal aortic aneurysms. Atherosclerosis. 2011;218:123–6.
Article
CAS
PubMed
Google Scholar
Joosten LA, Netea MG, Mylona E, Koenders MI, Malireddi RK, Oosting M, et al. Engagement of fatty acids with Toll-like receptor 2 drives interleukin-1β production via the ASC/caspase 1 pathway in monosodium urate crystal-induced gouty arthritis. Arthritis Rheum. 2010;62:3237–48.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lee K-A, Ki C-S, Kim H-J, Sohn K-M, Kim J-W, Kang WK, et al. Novel interleukin 1β polymorphism increased the risk of gastric cancer in a Korean population. J Gastoenterol. 2004;39:429–33.
Article
CAS
Google Scholar
Chen H, Wilkins LM, Aziz N, Cannings C, Wyllie DH, Bingle C, et al. Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context. Hum Mol Genet. 2006;15:519–29.
Article
CAS
PubMed
Google Scholar
Landvik NE, Hart K, Haugen A, Zienolddiny S. Functional analysis of a lung cancer risk haplotype in the IL1B gene regulatory region. J Hum Genet. 2012;57:747–52.
Article
CAS
PubMed
Google Scholar
Landvik NE, Hart K, Skaug V, Stangeland LB, Haugen A, Zienolddiny S. A specific interleukin-1B haplotype correlates with high levels of IL1B mRNA in the lung and increased risk of non-small cell lung cancer. Carcinogenesis. 2009;30:1186–92.
Article
CAS
PubMed
Google Scholar
Delgado-Lista J, Garcia-Rios A, Perez-Martinez P, Solivera J, Yubero-Serrano EM, Fuentes F, et al. Interleukin 1B variant-1473G/C (rs1143623) influences triglyceride and interleukin 6 metabolism. J Clin Endocrinol Metab. 2011;96:E816–20.
Article
PubMed Central
CAS
PubMed
Google Scholar
LeVan TD, Bloom JW, Bailey TJ, Karp CL, Halonen M, Martinez FD, et al. A common single nucleotide polymorphism in the CD14 promoter decreases the affinity of Sp protein binding and enhances transcriptional activity. J Immunol. 2001;167:5838–44.
Article
CAS
PubMed
Google Scholar
Mertens J, Bregadze R, Mansur A, Askar E, Bickeböller H, Ramadori G, et al. Functional impact of endotoxin receptor CD14 polymorphisms on transcriptional activity. J Mol Med. 2009;87:815–24.
Article
PubMed Central
CAS
PubMed
Google Scholar
LeVan TD, Michel O, Dentener M, Thorn J, Vertongen F, Beijer L, et al. Association between CD14 polymorphisms and serum soluble CD14 levels: Effect of atopy and endotoxin inhalation. J Allergy Clin Immunol. 2008;121:434–40.
Article
CAS
PubMed
Google Scholar
Baldini M, Carla Lohman I, Halonen M, Erickson RP, Holt PG, Martinez FD. A Polymorphism in the 5’ flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E. Am J Resp Cell Mol Biol. 1999;20:976–83.
Article
CAS
Google Scholar
Hitomi Y, Ebisawa M, Tomikawa M, Imai T, Komata T, Hirota T, et al. Associations of functional NLRP3 polymorphisms with susceptibility to food-induced anaphylaxis and aspirin-induced asthma. J Allergy Clin Immunol. 2009;124:779–85.
Article
CAS
PubMed
Google Scholar
Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Söderkvist P, Särndahl E. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? Arthritis Rheum. 2008;58:888–94.
Article
CAS
PubMed
Google Scholar
Verma D, Särndahl E, Andersson H, Eriksson P, Fredrikson M, Jönsson J-I, et al. The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1β and IL-18 production. PLoS One. 2012;7:e34977.
Article
PubMed Central
CAS
PubMed
Google Scholar
Pontillo A, Vendramin A, Catamo E, Fabris A, Crovella S. The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease. Am J Gastroenterol. 2011;106:539–44.
Article
CAS
PubMed
Google Scholar
Fontalba AM-TV, Gutierrez O, Pipaon C, Benito N, Balsa A, Blanco R, et al. Deficiency of the NF-kappaB inhibitor caspase activating and recruitment domain 8 in patients with rheumatoid arthritis is associated with disease severity. J Immunol. 2007;179:4867–73.
Article
CAS
PubMed
Google Scholar
Bagnall RD, Roberts RG, Mirza MM, Torigoe T, Prescott NJ, Mathew CG. Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation. Eur J Hum Genet. 2008;16:619–25.
Article
CAS
PubMed
Google Scholar
Lacruz-Guzmán D, Torres-Moreno D, Pedrero F, Romero-Cara P, García-Tercero I, Trujillo-Santos J, et al. Influence of polymorphisms and TNF and IL1β serum concentration on the infliximab response in Crohn’s disease and ulcerative colitis. Eur J Clin Pharmacol. 2013;69:431–8.
Article
PubMed
Google Scholar
Harrison P, Pointon J, Chapman K, Roddam A, Wordsworth B. Interleukin-1 promoter region polymorphism role in rheumatoid arthritis: a meta-analysis of IL-1B-511A/G variant reveals association with rheumatoid arthritis. Rheumatol. 2008;47:1768–70.
Article
CAS
Google Scholar
Potaczek D, Nastalek M, Okumura K, Wojas‐Pelc A, Undas A, Nishiyama C. An association of TLR2–16934A > T polymorphism and severity/phenotype of atopic dermatitis. J Eur Acad Dermatol Venerol. 2011;25:715–21.
Article
CAS
Google Scholar
Wang Z, Hu J, Fan R, Zhou J, Zhong J. Association between CD14 gene C-260 T polymorphism and inflammatory bowel disease: a meta-analysis. PLoS One. 2012;7:e45144.
Article
PubMed Central
CAS
PubMed
Google Scholar
Zhao L, Bracken MB. Association of CD14-260 (-159) C > T and asthma: a systematic review and meta-analysis. BMC Med genet. 2011;12:93.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wang Y, Sun C, Li T, Xu H, Zhou Y, Dan H, et al. Integrative approach detected association between genetic variants of microRNA binding sites of TLRs pathway genes and OSCC susceptibility in Chinese Han population. PLoS One. 2014;7:e101965.
Roger S, Mei Z-Z, Baldwin JM, Dong L, Bradley H, Baldwin SA, et al. Single nucleotide polymorphisms that were identified in affective mood disorders affect ATP-activated P2X 7 receptor functions. J Psychiatric Res. 2010;44:347–55.
Article
Google Scholar
Li Y, Grupe A, Rowland C, Nowotny P, Kauwe JS, Smemo S, et al. DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Hum Mol Genet. 2006;15:2560–8.
Article
CAS
PubMed
Google Scholar
Ferreira NE, Omae S, Pereira A, Rodrigues MV, Miyakawa AA, Campos LC, et al. Thioredoxin interacting protein genetic variation is associated with diabetes and hypertension in the Brazilian general population. Atherosclerosis. 2012;221:131–6.
Article
CAS
PubMed
Google Scholar
Meng D-M, Zhou Y-J, Wang L, Ren W, Cui L-L, Han L, et al. Erratum: Polymorphisms in the NLRP3 gene and risk of primary gouty arthritis. Mol Med Rep. 2013;8:1888.
CAS
Google Scholar