A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility

Human Cell

Volumn 26, Issue 4, 2013, Pages 133-136

  Nakayama, Akiyoshi ^a,b   Matsuo, Hirotaka ^a   Shimizu, Takuya ^c   Ogata, Hiraku ^a   Takada, Yuzo ^a   Nakashima, Hiroshi ^a   Nakamura, Takahiro ^a   Shimizu, Seiko ^a   Chiba, Toshinori ^a   Sakiyama, Masayuki ^a   Ushiyama, Chisaki ^d   Takada, Tappei ^e   Inoue, Katsuhisa ^f   Kawai, Sayo ^g   Hishida, Asahi ^g   Wakai, Kenji ^g   Hamajima, Nobuyuki ^g   Ichida, Kimiyoshi ^f   Sakurai, Yutaka ^a   Kato, Yukio ^c   Shimizu, Toru ^h   Shinomiya, Nariyoshi ^a   more..

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b Japan Air Self Defense Force   (Japan)

^c KANAZAWA UNIVERSITY   (Japan)

^d TOHO UNIVERSITY   (Japan)

^e UNIVERSITY OF TOKYO HOSPITAL   (Japan)

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

^g NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h Midorigaoka Hospital   (Japan)

Author keywords

Carnitine; Gouty arthritis; Gut urate excretion; Single nucleotide polymorphism (SNP); Solute carrier (SLC) family transporter

Indexed keywords

MONOCARBOXYLATE TRANSPORTER; MONOCARBOXYLATE TRANSPORTER 9; UNCLASSIFIED DRUG; URATE;

ADULT; ARTICLE; BODY MASS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GOUT; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RENAL OVERLOAD GOUT; RHEUMATOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; URIC ACID URINE LEVEL;

AGED; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GOUT; HUMANS; HYPERURICEMIA; INTESTINES; KIDNEY; MALE; MIDDLE AGED; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION, MISSENSE; RISK; URIC ACID;

EID: 84889049702     PISSN: 09147470     EISSN: 17490774     Source Type: Journal    
DOI: 10.1007/s13577-013-0073-8     Document Type: Article

References (17)

1. Feig DI, Kang DH, Johnson RJ. Uric acid and cardiovascular risk. N Engl J Med. 2008;359(17): 1811-21.
2. Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, et al. Decreased extra-renal urate excretion is a common cause of hyperuricemia. Nat Commun. 2012;3: 764.
3. Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, et al. Meta-analysis of 28, 141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009;5(6): e1000504.
4. van der Harst P, Bakker SJ, de Boer RA, Wolffenbuttel BH, Johnson T, Caulfield MJ, et al. Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms. Hum Mol Genet. 2010;19(2): 387-95.
5. 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(3): 895-900.
6. Hamajima N, J-MICC Study Group. The Japan Multi-Institutional Collaborative Cohort Study (J-MICC Study) to detect gene-environment interactions for cancer. Asian Pac J Cancer Prev. 2007;8(2): 317-23.
7. Becker MA. Hyperuricemia and gout. In: Scriver CR, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic & molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 2513-35.
8. Wortmann RL. Gout and hyperuricemia. Curr Opin Rheumatol. 2002;14(3): 281-6.
9. Wortmann RL. Disorders of purine and pyrimidine metabolism. In: Fauci AS, Braunwald E, Kasper D, Hauser SL, Long DL, Jameson JL, et al, editors. Harrison's Principles of Internal Medicine. 17th ed. New York: McGraw-Hill; 2008. p. 2444-9.
10. Urano W, Taniguchi A, Anzai N, Inoue E, Kanai Y, Yamanaka M, et al. Sodium-dependent phosphate cotransporter type 1 sequence polymorphisms in male patients with gout. Ann Rheum Dis. 2010;69(6): 1232-4.
11. The guideline revising committee of Japanese Society of Gout and Nucleic Acid Metabolism. Diagnosis of hyperuricemia and gout. In: The guideline revising committee of Japanese Society of Gout and Nucleic Acid Metabolism, editor. Guideline for the management of hyperuricemia and gout. 2nd ed. Osaka: Medical Review; 2010. p. 60-72.
12. Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet. 2008;83(6): 744-51.
13. Margraf RL, Mao R, Wittwer CT. Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument. J Mol Diagn. 2008;10(2): 123-8.
14. Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, 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. 2009;1(5): 5ra11.
15. Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, et al. Common dysfunctional variants in ABCG2 are a major cause of early-onset gout. Sci Rep. 2013;3: 2014.
16. Polašek O, Jerončić I, Mulić R, Klišmanić Z, Pehlić M, Zemunik T, et al. Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series. Croat Med J. 2010;51(1): 32-9.
17. Gunjača G, Boban M, Pehlić M, Zemunik T, Budimir D, Kolčić I, et al. Predictive value of 8 genetic loci for serum uric acid concentration. Croat Med J. 2010;51(1): 23-31.