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Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 gene with serum uric acid and gout in 4 US populations: the PAGE Study.
Thursday,2015-09-03 16:14 America/Los_Angeles — zdrager
| Title | Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 gene with serum uric acid and gout in 4 US populations: the PAGE Study. |
| Publication Type | Journal Article |
| Year of Publication | 2013 |
| Authors | Zhang, L, Spencer, KL, V Voruganti, S, Jorgensen, NW, Fornage, M, Best, LG, Brown-Gentry, KD, Cole, SA, Crawford, DC, Deelman, E, Franceschini, N, Gaffo, AL, Glenn, KR, Heiss, G, Jenny, NS, Köttgen, A, Li, Q, Liu, K, Matise, TC, North, KE, Umans, JG, Kao, LWH |
| Journal | Am J Epidemiol |
| Volume | 177 |
| Issue | 9 |
| Pagination | 923-32 |
| Date Published | 2013 May 1 |
| ISSN | 1476-6256 |
| Keywords | Adult, African Americans, Age Distribution, ATP-Binding Cassette Transporters, Comorbidity, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genetics, Population, Genome-Wide Association Study, Gout, Hormone Replacement Therapy, Humans, Indians, North American, Male, Mexican Americans, Middle Aged, Neoplasm Proteins, Polymorphism, Genetic, Postmenopause, Sex Distribution, United States, Uric Acid |
| Abstract | <p>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 × 10(-67), P = 3.98 × 10(-5), P = 6.97 × 10(-9), and P = 5.33 × 10(-4) in European Americans, African Americans, Mexican Americans, and American Indians, respectively) and gout (P = 2.83 × 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 × 10(-80)) and a 1.75-fold increase in the odds of gout (P = 1.09 × 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.</p> |
| DOI | 10.1093/aje/kws330 |
| Alternate Journal | Am. J. Epidemiol. |
| PubMed ID | 23552988 |
| PubMed Central ID | PMC4023295 |
| Grant List | M01-RR00425 / RR / NCRR NIH HHS / United States N01-HC-45133 / HC / NHLBI NIH HHS / United States N01-HC-48047 / HC / NHLBI NIH HHS / United States N01-HC-48048 / HC / NHLBI NIH HHS / United States N01-HC-48049 / HC / NHLBI NIH HHS / United States N01-HC-48050 / HC / NHLBI NIH HHS / United States N01-HC-55015 / HC / NHLBI NIH HHS / United States N01-HC-55016 / HC / NHLBI NIH HHS / United States N01-HC-55018 / HC / NHLBI NIH HHS / United States N01-HC-55019 / HC / NHLBI NIH HHS / United States N01-HC-55020 / HC / NHLBI NIH HHS / United States N01-HC-55021 / HC / NHLBI NIH HHS / United States N01-HC-55022 / HC / NHLBI NIH HHS / United States N01-HC-95095 / HC / NHLBI NIH HHS / United States R01 DK092238 / DK / NIDDK NIH HHS / United States R01 HL087652 / HL / NHLBI NIH HHS / United States U01 HL 65521 / HL / NHLBI NIH HHS / United States U01 HL041652 / HL / NHLBI NIH HHS / United States U01 HL41642 / HL / NHLBI NIH HHS / United States U01 HL41652 / HL / NHLBI NIH HHS / United States U01 HL41654 / HL / NHLBI NIH HHS / United States U01 HL65520 / HL / NHLBI NIH HHS / United States U01HG004790 / HG / NHGRI NIH HHS / United States U01HG004798 / HG / NHGRI NIH HHS / United States U01HG004798-01 / HG / NHGRI NIH HHS / United States U01HG004801 / HG / NHGRI NIH HHS / United States U01HG004801-01 / HG / NHGRI NIH HHS / United States U01HG004802 / HG / NHGRI NIH HHS / United States U01HG004803 / HG / NHGRI NIH HHS / United States U01HL080295 / HL / NHLBI NIH HHS / United States |