ABCMdb

PMID: 20858603

Phipps-Green AJ, Hollis-Moffatt JE, Dalbeth N, Merriman ME, Topless R, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Merriman TR
A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Maori, case and control sample sets.
Hum Mol Genet. 2010 Dec 15;19(24):4813-9. Epub 2010 Sep 21., 2010-12-15 [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCG2 p.Gln141Lys ABCG2 p.Gln141Lys A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Ma¯ori, case and control sample sets Amanda J. Phipps-Green1, Jade E. Hollis-Moffatt1, Nicola Dalbeth3, Marilyn E. Merriman1, Ruth Topless1, Peter J. Gow4, Andrew A. Harrison5, John Highton2, Peter B.B. Jones3, Lisa K. Stamp6 and Tony R. Merriman1,* 1 Department of Biochemistry and 2 Department of Medicine, University of Otago, Dunedin, New Zealand, 3 Department of Medicine, University of Auckland, Auckland, New Zealand, 4 Department of Rheumatology, Middlemore Hospital, Auckland, New Zealand, 5 Department of Medicine, University of Otago, Wellington, New Zealand and 6 Department of Medicine, University of Otago, Christchurch, New Zealand Received June 24, 2010; Revised September 8, 2010; Accepted September 16, 2010 Genetic variation in ABCG2 (rs2231142, Q141K), encoding a uric acid transporter, is associated with gout in diverse populations. Login to comment 22 ABCG2 p.Gln141Lys In addition, a missense single nucleotide polymorphism (SNP) (rs2231142; Q141K) in ABCG2 has been associated with hyperuricaemia and gout in Caucasian, Han Chinese, Japanese and African-American samples (4,7-10). Login to comment 23 ABCG2 p.Gln141Lys In addition, a missense single nucleotide polymorphism (SNP) (rs2231142; Q141K) in ABCG2 has been associated with hyperuricaemia and gout in Caucasian, Han Chinese, Japanese and African-American samples (4,7-10). Login to comment 24 ABCG2 p.Gln141Lys The lysine allele of Q141K, which explains the genetic association in Caucasian populations, encodes a transporter with 50% reduced activity (7,9). Login to comment 25 ABCG2 p.Gln141Lys ABCG2 p.Gln141Lys The lysine allele of Q141K, which explains the genetic association in Caucasian populations, encodes a transporter with 50% reduced activity (7,9). Login to comment 26 ABCG2 p.Gln141Lys Given the very high rate of gout in NZ Ma¯ori and Pacific Island people, here we tested whether or not ABCG2 [rs2231142 (Q141K)] conferred a strong risk for gout in case-control samples drawn from these populations, and in an NZ Caucasian case-control sample set. Login to comment 59 ABCG2 p.Gln141Lys DISCUSSION Association of rs2231142 (Q141K) with serum urate levels and gout in Caucasian and Japanese is established (4,7,9,10), and has been reported in Han Chinese and African-American sample sets (4,8). Login to comment 60 ABCG2 p.Gln141Lys DISCUSSION Association of rs2231142 (Q141K) with serum urate levels and gout in Caucasian and Japanese is established (4,7,9,10), and has been reported in Han Chinese and African-American sample sets (4,8). Login to comment 63 ABCG2 p.Gln141Lys Analysis of association of rs2231142 (ABCG2: Q141K) in NZ Ma¯ori, Pacific Island and Caucasian case-control samples Genotype, no. Login to comment 64 ABCG2 p.Gln141Lys Analysis of association of rs2231142 (ABCG2: Q141K) in NZ Ma¯ori, Pacific Island and Caucasian case-control samples Genotype, no. Login to comment 74 ABCG2 p.Gln141Lys Given the associations of ABCG2 Q141K reported in sample sets drawn from diverse populations (Caucasian, Japanese, Han Chinese, African-American, Pacific Island; Table 1) (4,7-10), the lack of association observed in NZ Ma¯ori is notable. Login to comment 96 ABCG2 p.Gln141Lys Given that ABCG2 Q141K determines serum urate levels, where a gender effect is observed (4), and that gout is a condition of extreme serum urate levels in both men and women, a gender effect of ABCG2 in gout would not be expected since all cases, whether male or female, are already hyperuricaemic. Login to comment 108 ABCG2 p.Gln126* ABCG2 p.Gln126* However, this needs to be confirmed by re-sequencing ABCG2 in this population group and genotyping all variants in gout cases and controls, in a fashion analogous to that done previously in a Japanese sample set (9), in which a genetically independent variant (Q126X; rs72552713) also confers risk to gout (OR ¼ 4.25). Login to comment