ABCMdb

PMID: 24777469

Lv X, Zhang Y, Zeng F, Yin A, Ye N, Ouyang H, Feng D, Li D, Ling W, Zhang X
The association between the polymorphism rs2231142 in the ABCG2 gene and gout risk: a meta-analysis.
Clin Rheumatol. 2014 Dec;33(12):1801-5. doi: 10.1007/s10067-014-2635-x. Epub 2014 Apr 29., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCG2 p.Gln141Lys We searched "rs2231142 or Q141K and gout" in four databases and scholar searching website until 1 June, 2013 and included data from 52,010 participants in meta-analysis and subgroup analysis. Login to comment 8 ABCG2 p.Gln141Lys Q141K . Login to comment 10 ABCG2 p.Gln141Lys Single-nucleotide polymorphism (SNP) rs2231142, known as Q141K in ABCG2, leading to a change from glutamine to lysine, is reported to be associated with gout in several populations, such as Atherosclerosis Risk in Communities (ARIC) Study [2], European Americans [3], African Americans [3], Mexican Americans [3], Americans Indians [3], German [4], Chinese [5, 6], Japanese [7], and New Zealand Pacific Islanders [8], but not in New Zealand Maoris [8]. Login to comment 17 ABCG2 p.Gln141Lys Ling Guangdong Provincial Key Laboratory of Food, Nutrition and Health, Department of Nutrition, School of Public Health, Sun Yat-Sen University (Northern Campus), 74 Zhongshan Road 2, Guangzhou 510080, China Clin Rheumatol (2014) 33:1801-1805 DOI 10.1007/s10067-014-2635-x Methods Literature search Two researchers (Xiaofei Lv and Yuan Zhang) retrieved studies in PubMed (January 1966-June 2013), ISI Web of Knowledge (1950-2013), and OVID (Sun Yat-sen University Journals@Ovid and Journals@Ovid Full Text, 1860-2013) by using the terms "rs2231142 and gout" and "Q141K and gout." Login to comment 47 ABCG2 p.Gln141Lys SNP rs2231142, the Q141K mutation in ABCG2 gene, was reported to be associated with gout by reducing renal urate secretion. Login to comment 62 ABCG2 p.Gln141Lys It is already discovered that the Q141K (rs2231142) polymorphism is a loss-of-function mutation in two independent functional studies [1, 13]. Login to comment 64 ABCG2 p.Gln141Lys The results showed that Q141K decreased ATPase activity by 1.3 below that of wild-type ABCG2. Login to comment 65 ABCG2 p.Gln141Lys In addition, kinetic analysis of ATPase activity showed that the K(m) value in Q141K was 1.4-fold higher than that of wild-type ABCG2 [14]. Login to comment