Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

Scientific Reports

Volumn 3, Issue , 2013, Pages

  Matsuo, Hirotaka ^a   Ichida, Kimiyoshi ^b,c   Takada, Tappei ^d   Nakayama, Akiyoshi ^a,e   Nakashima, Hiroshi ^a   Nakamura, Takahiro ^a,f   Kawamura, Yusuke ^a   Takada, Yuzo ^a   Yamamoto, Ken ^g   Inoue, Hiroki ^a   Oikawa, Yuji ^h   Naito, Mariko ⁱ   Hishida, Asahi ⁱ   Wakai, Kenji ⁱ   Okada, Chisa ^a   Shimizu, Seiko ^a   Sakiyama, Masayuki ^a   Chiba, Toshinori ^a   Ogata, Hiraku ^a   Niwa, Kazuki ^h   Hosoyamada, Makoto ^j   Mori, Atsuyoshi ^k   Hamajima, Nobuyuki ⁱ   Suzuki, Hiroshi ^d   Kanai, Yoshikatsu ^l   Sakurai, Yutaka ^a   Hosoya, Tatsuo ^c   Shimizu, Toru ^m   Shinomiya, Nariyoshi ^a   more..

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b TOKYO UNIVERSITY OF PHARMACY AND LIFE SCIENCES   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^e Japan Air Self Defense Force   (Japan)

^f INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

^g KYUSHU UNIVERSITY   (Japan)

^h TOHO UNIVERSITY   (Japan)

ⁱ NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^j TEIKYO UNIVERSITY   (Japan)

^k Seirei Preventive Health Care Center   (Japan)

^l OSAKA UNIVERSITY   (Japan)

^m Midorigaoka Hospital   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCG2 PROTEIN, HUMAN; TUMOR PROTEIN;

ADOLESCENT; ADULT; CASE CONTROL STUDY; GENETICS; GOUT; HUMAN; MALE; ONSET AGE; YOUNG ADULT; ARTICLE;

ADOLESCENT; ADULT; AGE OF ONSET; ATP-BINDING CASSETTE TRANSPORTERS; CASE-CONTROL STUDIES; GOUT; HUMANS; MALE; NEOPLASM PROTEINS; YOUNG ADULT;

EID: 84879659544     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep02014     Document Type: Article

References (41)

1. Feig, D. I., Kang, D. H. & Johnson, R. J. Uric acid and cardiovascular risk. N. Engl. J. Med. 359, 1811-1821 (2008).
2. Cannon, P. J., Stason, W. B., Demartini, F. E., Sommers, S. C. & Laragh, J. H. Hyperuricemia in primary and renal hypertension. N. Engl. J. Med. 275, 457-464 (1966).
3. Forman, J. P., Choi, H.&Curhan, G. C. Uric acid and insulin sensitivity and risk of incident hypertension. Arch. Intern. Med. 169, 155-162 (2009).
4. Tuttle, K. R., Short, R. A. & Johnson, R. J. Sex differences in uric acid and risk factors for coronary artery disease. Am. J. Cardiol. 87, 1411-1414 (2001). (Pubitemid 32523032)
5. Lin, Y. H. et al. Gouty arthritis in acute cerebrovascular disease. Cerebrovasc. Dis. 28, 391-396 (2009).
6. Talaat, K. M. & el-Sheikh, A. R. The effect of mild hyperuricemia on urinary transforming growth factor beta and the progression of chronic kidney disease. Am. J. Nephrol. 27, 435-440 (2007). (Pubitemid 47481999)
7. Doherty, M. New insights into the epidemiology of gout. Rheumatology (Oxford). 48 Suppl 2, ii2-ii8 (2009).
8. Tanaka, E. et al. Recent trend in the onset age of gouty arthritis in Japan [in Japanese]. Gout Nucleic Acid Metab 28, 7-11 (2004).
9. Yu, K. H. & Luo, S. F. Younger age of onset of gout in Taiwan. Rheumatology (Oxford). 42, 166-170 (2003).
10. Bleyer, A. J. & Hart, T. C. Genetic factors associated with gout and hyperuricemia. Adv Chronic Kidney Dis 13, 124-130 (2006).
11. Cheng, L. S. et al. Genomewide scan for gout in Taiwanese aborigines reveals linkage to chromosome 4q25. Am. J. Hum. Genet. 75, 498-503 (2004). (Pubitemid 39115318)
12. Dehghan, A. et al. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 372, 1953-1961 (2008).
13. Kolz, M. et al. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 5, e1000504 (2009).
14. Kamatani, Y. et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat. Genet. 42, 210-215 (2010).
15. Woodward, O. M. et al. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc. Natl. Acad. Sci. U. S. A. 106, 10338-10342 (2009).
16. Matsuo, H. et al. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci. Transl. Med. 1, 5ra11 (2009).
17. Ichida, K. et al. Decreased extra-renal urate excretion is a common cause of hyperuricemia. Nat. Commun. 3, 764 (2012).
18. Phipps-Green,A. J. et al.Astrong 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. 19, 4813-4819 (2010).
19. Yamagishi, K. et al. The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people. Rheumatology (Oxford). 49, 1461-1465 (2010).
20. Lee, C. C. et al. Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science 239, 1288-1291 (1988).
21. Enomoto, A. et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417, 447-452 (2002). (Pubitemid 34563537)
22. Li, S. et al. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet. 3, e194 (2007).
23. Matsuo, H. et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am. J. Hum. Genet. 83, 744-751 (2008).
24. Connelly, J. J. et al. GATA2 is associated with familial early-onset coronary artery disease. PLoS Genet. 2, e139 (2006).
25. Samani, N. J. et al. Genomewide association analysis of coronary artery disease. N. Engl. J. Med. 357, 443-453 (2007). (Pubitemid 47204873)
26. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
27. Ikram,M. A. et al. Genomewide association studies of stroke. N. Engl. J. Med. 360, 1718-1728 (2009).
28. Scott, L. J. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316, 1341-1345 (2007). (Pubitemid 46871655)
29. Lambert, J. C. et al.Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat. Genet. 41, 1094-1099 (2009).
30. Manolio, T. A., Brooks, L. D.& Collins, F. S.AHapMap harvest of insights into the genetics of common disease. J. Clin. Invest. 118, 1590-1605 (2008). (Pubitemid 351632361)
31. Kathiresan, S. et al.Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat. Genet. 41, 334-341 (2009).
32. Khachaturian, A. S., Corcoran, C. D., Mayer, L. S., Zandi, P. P. & Breitner, J. C. Apolipoprotein E epsilon4 count affects age at onset of Alzheimer disease, but not lifetime susceptibility: The Cache County Study. Arch. Gen. Psychiatry 61, 518-524 (2004). (Pubitemid 38620851)
33. Zaka, R. & Williams, C. J. New developments in the epidemiology and genetics of gout. Curr. Rheumatol. Rep. 8, 215-223 (2006). (Pubitemid 44623971)
34. Torres, R. J. & Puig, J. G. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2, 48 (2007).
35. Becker, M. A.,Meyer, L. J., Wood, A. W. & Seegmiller, J. E. Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. Science 179, 1123-1126 (1973).
36. Hart, T. C. et al.Mutations of theUMODgene are responsible formedullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J. Med. Genet. 39, 882-892 (2002). (Pubitemid 36009149)
37. Kamatani, N. et al. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family. Arthritis Rheum. 43, 925-929 (2000).
38. Wu, E. Q. et al. Disease-related and all-cause health care costs of elderly patients with gout. J Manag Care Pharm 14, 164-175 (2008). (Pubitemid 351453817)
39. Wallace, S. L. et al. Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum. 20, 895-900 (1977).
40. Matsuo, H. et al. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. Arch. Neurol. 56, 721-726 (1999). (Pubitemid 29266473)
41. Margraf, R. L., Mao, R. & Wittwer, C. T. Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument. J Mol Diagn 10, 123-128 (2008). (Pubitemid 351428393)