Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 378-382

  Hamajima, Nobuyuki ^a   Okada, Rieko ^a   Kawai, Sayo ^a   Hishida, Asahi ^a   Morita, Emi ^a   Yin, Guang ^a   Wakai, Kenji ^a   Matsuo, Hirotaka ^b   Inoue, Hiroki ^b   Takada, Yuzo ^b   Asai, Yatami ^c   Mori, Atsuyoshi ^c   Naito, Mariko ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^c Seirei Social Welfare Community   (Japan)

Author keywords

ABCG2 Q126X; Hypouricemia; Polymerase chain reaction with confronting two pair primers; Serum uric acid; SLC22A12 W258X; SLC2A9 rs11722228

Indexed keywords

BREAST CANCER RESISTANCE PROTEIN; CREATININE; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 9; UNCLASSIFIED DRUG; URIC ACID;

ADULT; AGED; ALLELE; ARTICLE; CREATININE BLOOD LEVEL; DNA POLYMORPHISM; ETHNIC GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; GLUCOSE TRANSPORT SYSTEM; GROUPS BY AGE; HUMAN; HYPERURICEMIA; JAPANESE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEX DIFFERENCE; URIC ACID BLOOD LEVEL;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CREATININE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; INTRONS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; URIC ACID;

EID: 79960832712     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.001     Document Type: Article

References (31)

1. Woodward O., Kottgen A., Coresh J., Boerwinkle E., Guggino W., Kottgen M. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc. Natl. Acad. Sci. USA 2009, 106:10338-10342.
2. Matsuo H., Takada T., Ichida K., Nakamura T., Nakayama A., Ikebuchi Y., Ito K., Kusanagi Y., Chiba T., Tadokoro S., Takada Y., Oikawa Y., Ioue H., Suzuki K., Okada R., Nishiyama J., Domoto H., Watanabe S., Fujita M., Morimoto Y., Naito M., Nishio K., Hishida A., Wakai K., Asai Y., Niwa K., Kamakura K., Nonoyama S., Sakurai Y., Hosoya T., Kanai Y., Suzuki H., Hamajima N., Shinomiya N. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a functional-based genetic analysis in a Japanese population. Sci. Transl. Med. 2009, 1:5ra11.
3. Yamagishi K., Tanigawa T., Kitamura A., Kottgen A., Folsom A.R., Iso H., CIRCS Investigators The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people. Rheumatology 2010, 49:1461-1465.
4. Taniguchi A., Kamatani N. Control of renal uric acid excretion and gout. Curr. Opin. Rheumatol. 2008, 20:192-197.
5. Enomoto A., Kimura H., Chairoungdua A., Shigeta Y., Jutabha P., Cha S.H., Hosoyamada M., Takeda M., Sekine T., Igarashi T., Matsuo H., Kikuchi Y., Oda T., Ichida K., Hosoya T., Shimokata K., Niwa T., Kanai Y., Endou H. Molecular identification of a renal urate-anion exchanger that regulates blood urate levels. Nature 2002, 417:447-452.
6. Komoda F., Sekine T., Inatomi J., Enomoto A., Endou H., Ota T., Matsuyama T., Ogata T., Ikeda M., Awazu M., Muroya K., Kamimaki I., Igarashi T. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatr. Nephrol. 2004, 19:728-733.
7. Ichida K., Hosoyamada M., Hisatome I., Enomoto A., Hikita M., Endou H., Hosoya T. Clinical and molecular analysis of patients with renal hypouricemia in Japan- influence of URAT1 gene on urinary urate excretion. J. Am. Soc. Nephrol. 2004, 15:164-173.
8. Iwai N., Mino Y., Hosoyamada M., Tago N., Kokubo Y., Endou H. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int. 2004, 66:935-944.
9. Matsuo H., Chiba T., Nagamori S., Nakayama A., Domoto H., Phetdee K., Wiriyasermkul P., Kikuchi Y., Oda T., Nishiyama J., Nakamura T., Morimoto Y., Kamakura K., Sakurai Y., Nonoyama S., Kanai Y., Shinomiya N. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am. J. Hum. Genet. 2008, 83:744-751.
10. Dinour D., Gray N.K., Campbell S., Shu X., Sawyer L., Richardson W., Rechavi G., Amariglio N., Ganon L., Sela B.A., Bahat H., Goldman M., Weissgarten J., Millar M.R., Wright A.F., Holtzman E.J. Homozygous SLC2A9 mutations cause severe renal hypouricemia. J. Am. Soc. Nephrol. 2010, 21:64-72.
11. B. Stiburkova, K. Ichida, I. Sebesta, Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia, Mol. Genet. Metab. 102 (2011) 430-435.
12. Kolz M., Johnson T., Sanna S., Teumer A., Vitart V., Perola M., Mangino M., Albrecht E., Wallace C., Farrall M., Johansson A., Nyholt D.R., Aulchenko Y., Beckmann J.S., Bergmann S., Bochud M., Brown M., Campbell H., EUROSPAN Consortium, Connell J., Dominiczak A., Homuth G., Lamina C., McCarthy M.I., ENGAGE Consortium, Meitinger T., Mooser V., Munroe P., Nauck M., Peden J., Prokisch H., Salo P., Salomaa V., Samani N.J., Schlessinger D., Uda M., Völker U., Waeber G., Waterworth D., Wang-Sattler R., Wright A.F., Adamski J., Whitfield J.B., Gyllensten U., Wilson J.F., Rudan I., Pramstaller P., Watkins H., PROCARDIS Consortium, Doering A., Wichmann H.E., KORA Study, Spector T.D., Peltonen L., Völzke H., Nagaraja R., Vollenweider P., Caulfield M., WTCCC, Illig T., Gieger C. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009, 5:e1000504.
13. Charles B.A., Shriner D., Doumatey A., Chen G., Zhou J., Huang H., Herbert A., Gerry N.P., Christman M.F., Adeyemo A., Rotimi C.N. A genome-wide association study of serum uric acid in African Americans. BMC Med. Genomics 2011, 4:17.
14. Kamatani Y., Matsuda K., Okada Y., Kubo M., Hosono N., Daigo Y., Nakamura Y., Kamatani N. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat. Genet. 2010, 42:210-215.
15. The J-MICC Study Group 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, 8:317-323.
16. Asai Y., Naito M., Suzuki M., Tomoda A., Kuwabara M., Fukada Y., Okamoto A., Oishi S., Ikeda K., Nakamura T., Misu Y., Katase S., Tokumasu S., Nishio K., Ishida Y., Hishida A., Morita E., Kawai S., Okada R., Wakai K., Tamakoshi A., Hamajima N. Baseline data of Shizuoka area in the Japan Multi-institutional Collaborative Cohort Study (J-MICC Study). Nagoya J. Med. Sci. 2009, 71:137-144.
17. Hamajima N., Saito T., Matsuo K., Kozaki K., Takahashi T., Tajima K. Polymerase chain reaction with confronting two-pair primers for polymorphism genotyping. Jpn. J. Cancer Res. 2000, 91:865-868.
18. Hamajima N., Naito M., Hishida A., Okada R., Asai Y., Wakai K. Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population. BMC Med. Genet. 2011, 12:33.
19. Burack R.C., Keller J.B., Higgins M.W. Cardiovascular risk factors and obesity: are baseline levels of blood pressure, glucose, cholesterol and uric acid elevated prior to weight gain?. J. Chronic Dis. 1985, 38:865-872.
20. Benedek T.G. Correlations of serum uric acid and lipid concentrations in normal, gouty, and atherosclerotic men. Ann. Intern. Med. 1967, 66:851-861.
21. Alderman M. Uric acid in hypertension and cardiovascular disease. Can. J. Cardiol. 1999, 15(Suppl F):20F-22F.
22. Bengtsson C., Tibblin E. Serum uric acid levels in women: an epidemiological survey with special reference to women with high serum uric acid values. Acta Med. Scand. 1974, 196:93-102.
23. Rathmann W., Funkhouser E., Dyer A.R., Roseman J.M. Relations of hyperuricemia with the various components of the insulin resistance syndrome in young black and white adults: the CARDIA study. Coronary Artery Risk Development in Young Adults. Ann. Epidemiol. 1998, 8:250-261.
24. Nakashima M., Uematsu T., Kosuge K., Kanamaru M. Pilot study of the uricosuric effect of DuP-753, a new angiotensin II receptor antagonist, in healthy subjects. Eur. J. Clin. Pharmacol. 1992, 42:333-335.
25. Golbahar J., Aminzadeh M.A., Al-Shboul Q.M., Kassab S., Rezaian G.R. Association of methylenetetrahydrofolate reductase (C677T) polymorphism with hyperuricemia. Nutr. Metab. Cardiovasc. 2007, 17:462-467.
26. Itou S., Goto Y., Suzuki K., Kawai S., Naito M., Ito Y., Hamajima N. Significant association between methylentetrahydrofolate reductase 677T allele and hyperuricemia among adult Japanese subjects. Nutr. Res. 2009, 29:710-715.
27. Tobara Y., Kohara K., Kawamoto R., Hiura Y., Nishimura K., Morisaki T., Kokubo Y., Okamura T., Tomoike H., Iwai N., Miki T. Association of four genetic loci with uric acid levels and reduced renal function: the J-SHIPP Suita Study. Am. J. Nephrol. 2010, 32:279-286.
28. Brandstätter A., Kiechl S., Kollerits B., Hunt S.C., Coassin S., Willeit J., Adams T.D., Illig T., Hopkins P.N., Kronenberg F. Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI. Diabetes Care 2008, 31:1662-1667.
29. Brandstätter A., Lamina C., Kiechl S., Hunt S.C., Coassin S., Paulweber B., Kramer F., Summerer M., Willeit J., Kedenko L., Adams T.D., Kronenberg F. Sex and age interaction with genetic association of atherogenic uric acid concentrations. Atherosclerosis 2010, 210:474-478.
30. Döring A., Gieger C., Mehta D., Gohlke H., Prokisch H., Coassin S., Fischer G., Henke K., Klopp N., Kronenberg F., Paulweber B., Pfeufer A., Rosskopf D., Völzke H., Illig T., Meitinger T., Wichmann H.E., Meisinger C. SLC2C9 influences uric acid concentrations with pronounced sex-specific effects. Nat. Genet. 2008, 40:430-436.
31. Hak A.E., Choi H.K. Menopause, postmenopausal hormone use and serum uric acid levels in US women - the Third National Health and Nutrition Examination Survey. Arthritis Res. Ther. 2008, 10:R116.