Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 gene with serum uric acid and gout in 4 US populations: the PAGE Study.

MedStar author(s):
Citation: American Journal of Epidemiology. 177(9):923-32, 2013 May 1.PMID: 23552988Institution: MedStar Health Research InstituteForm of publication: Journal ArticleMedline article type(s): Journal Article | Research Support, N.I.H., ExtramuralSubject headings: *ATP-Binding Cassette Transporters/ge [Genetics] | *Genetic Predisposition to Disease | *Genetics, Population | *Genome-Wide Association Study | *Gout/ge [Genetics] | *Neoplasm Proteins/ge [Genetics] | *Uric Acid/bl [Blood] | Adult | African Americans/ge [Genetics] | Age Distribution | Comorbidity | European Continental Ancestry Group/ge [Genetics] | Female | Gout/bl [Blood] | Gout/eh [Ethnology] | Hormone Replacement Therapy/sn [Statistics & Numerical Data] | Humans | Indians, North American/ge [Genetics] | Male | Mexican Americans/ge [Genetics] | Middle Aged | Polymorphism, Genetic | Postmenopause | Sex Distribution | United StatesYear: 2013Local holdings: Available online from MWHC library: 1996 - present, Available in print through MWHC library: 1996 - 2006ISSN:
  • 0002-9262
Name of journal: American journal of epidemiologyAbstract: A loss-of-function mutation (Q141K, rs2231142) in the ATP-binding cassette, subfamily G, member 2 gene (ABCG2) has been shown to be associated with serum uric acid levels and gout in Asians, Europeans, and European and African Americans; however, less is known about these associations in other populations. Rs2231142 was genotyped in 22,734 European Americans, 9,720 African Americans, 3,849 Mexican Americans, and 3,550 American Indians in the Population Architecture using Genomics and Epidemiology (PAGE) Study (2008-2012). Rs2231142 was significantly associated with serum uric acid levels (P = 2.37 x 10(-67), P = 3.98 x 10(-5), P = 6.97 x 10(-9), and P = 5.33 x 10(-4) in European Americans, African Americans, Mexican Americans, and American Indians, respectively) and gout (P = 2.83 x 10(-10), P = 0.01, and P = 0.01 in European Americans, African Americans, and Mexican Americans, respectively). Overall, the T allele was associated with a 0.24-mg/dL increase in serum uric acid level (P = 1.37 x 10(-80)) and a 1.75-fold increase in the odds of gout (P = 1.09 x 10(-12)). The association between rs2231142 and serum uric acid was significantly stronger in men, postmenopausal women, and hormone therapy users compared with their counterparts. The association with gout was also significantly stronger in men than in women. These results highlight a possible role of sex hormones in the regulation of ABCG2 urate transporter and its potential implications for the prevention, diagnosis, and treatment of hyperuricemia and gout.All authors: Best LG, Brown-Gentry KD, Cole SA, Crawford DC, Deelman E, Fornage M, Franceschini N, Gaffo AL, Glenn KR, Heiss G, Jenny NS, Jorgensen NW, Kao WH, Kottgen A, Li Q, Liu K, Matise TC, North KE, Spencer KL, Umans JG, Voruganti VS, Zhang LFiscal year: FY2013Digital Object Identifier: Date added to catalog: 2014-08-21
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Item type Current library Collection Call number Status Date due Barcode
Journal Article MedStar Authors Catalog Article 23552988 Available 23552988

Available online from MWHC library: 1996 - present, Available in print through MWHC library: 1996 - 2006

A loss-of-function mutation (Q141K, rs2231142) in the ATP-binding cassette, subfamily G, member 2 gene (ABCG2) has been shown to be associated with serum uric acid levels and gout in Asians, Europeans, and European and African Americans; however, less is known about these associations in other populations. Rs2231142 was genotyped in 22,734 European Americans, 9,720 African Americans, 3,849 Mexican Americans, and 3,550 American Indians in the Population Architecture using Genomics and Epidemiology (PAGE) Study (2008-2012). Rs2231142 was significantly associated with serum uric acid levels (P = 2.37 x 10(-67), P = 3.98 x 10(-5), P = 6.97 x 10(-9), and P = 5.33 x 10(-4) in European Americans, African Americans, Mexican Americans, and American Indians, respectively) and gout (P = 2.83 x 10(-10), P = 0.01, and P = 0.01 in European Americans, African Americans, and Mexican Americans, respectively). Overall, the T allele was associated with a 0.24-mg/dL increase in serum uric acid level (P = 1.37 x 10(-80)) and a 1.75-fold increase in the odds of gout (P = 1.09 x 10(-12)). The association between rs2231142 and serum uric acid was significantly stronger in men, postmenopausal women, and hormone therapy users compared with their counterparts. The association with gout was also significantly stronger in men than in women. These results highlight a possible role of sex hormones in the regulation of ABCG2 urate transporter and its potential implications for the prevention, diagnosis, and treatment of hyperuricemia and gout.

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