ABCMdb

PMID: 23544272

Hinohara Y, Naito M, Okada R, Yin G, Higashibata T, Tamura T, Kawai S, Morita E, Wakai K, Matsuo H, Mori A, Hamajima N
No association between MTHFR C677T and serum uric acid levels among Japanese with ABCG2 126QQ and SLC22A12 258WW.
Nagoya J Med Sci. 2013 Feb;75(1-2):93-100., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCG2 p.Gln126* This study examined the association with the polymorphism, taking into account the genotypes of ABCG2 Q126X and SLC22A12 W258X. Login to comment 11 ABCG2 p.Gln126* The present study indicated no association between SUA and MTHFR C677T genotype, after the influences of ABCG2 Q126X and SLC22A12 W258X were removed. Login to comment 12 ABCG2 p.Gln141Lys ABCG2 p.Gln126* Key Words: Serum uric acid, Urate transporter polymorphisms, MTHFR C677T INTRODUCTION It is well known that serum uric acid (SUA) levels are associated with various factors such as sex, age, body mass index (BMI), dietary habit and drinking habit.1-3) In addition, there is evidence that genetic traits influence SUA concentrations; the heritability was estimated to be up to 73%.4) A recent genome-wide association study performed in Japan showed strong associations of SUA with genetic polymorphisms of SLC22A12 coding uric acid transporter 1 (URAT1), Received: January 13, 2013; accepted: January 24, 2013 Corresponding author: Yukako Hinohara MD, MPH Department of Preventive Medicine, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan Phone: +81 52 744 2132, Fax: +81 52 744 2971, E-mail address: y.hinohara@soumu.go.jp SLC2A9 coding glucose transporter 9 (GLUT9), and ABCG2 coding ATP-binding cassette subfamily G member 2 (ABCG2),5) which were also reported to have associations in European ancestry.6) Among the polymorphisms, SLC22A12 W258X,7,8) SLC2A9 R380W and R198C,9) and ABCG2 Q126X and Q141K10,11) were confirmed to have associations with SUA, although the association of ABCG2 Q141K was relatively weak. Login to comment 14 ABCG2 p.Gln126* Although not detected in the genome-wide association study, methylenetetrahydrofolate reductase (MTHFR) C677T was reported to have associations with SUA.12-14) A recent meta-analysis on the association with six studies (two from Iran, two from China, one from Korea, and one from Japan) demonstrated that the summary odds ratio (OR) was 1.879 (95% confidence interval (CI), 1.596-2.213).15) The present study investigated the association of MTHFR C677T with SUA levels among Japanese health checkup examinees, after taking into account the genotypes of SLC22A12 W258X and ABCG2 Q126X. Login to comment 62 ABCG2 p.Gln126* A systematic review showed that the ethnicity may affect the relationship between the MTHFR mutation and SUA levels.33) In conclusion, though some limitations remain, the present study indicated no association between SUA and MTHFR C677T genotype among Japanese, after the influences of ABCG2 Q126X and SLC22A12 W258X were removed. Login to comment