ABCMdb

PMID: 23774753

Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Inoue H, Oikawa Y, Naito M, Hishida A, Wakai K, Okada C, Shimizu S, Sakiyama M, Chiba T, Ogata H, Niwa K, Hosoyamada M, Mori A, Hamajima N, Suzuki H, Kanai Y, Sakurai Y, Hosoya T, Shimizu T, Shinomiya N
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
Sci Rep. 2013;3:2014. doi: 10.1038/srep02014., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCG2 p.Gln141Lys ABCG2 p.Gln126* We also showed that genotyping of only two dysfunctional variants, Q126X (rs72552713) and Q141K (rs2231142), is sufficient to estimate the severity of ABCG2 dysfunction; i.e. full function, 3/4 function (mild dysfunction), 1/2 function (moderate dysfunction), and # 1/4 function (severe dysfunction). Login to comment 39 ABCG2 p.Gln141Lys ABCG2 p.Gln126* Table 1 | ABCG2 functions of participants Estimated Function Genotype Combination Number (%) Q126X* (rs72552713) Q141K* (rs2231142) Gout Control #1/4 function T/T C/C 37 (5.2) 22 (1.2) T/C C/A 1/2 function T/C C/C 169 (24.0) 219 (11.6) C/C A/A 3/4 function C/C C/A 331 (47.0) 699 (37.0) Full function C/C C/C 168 (23.8) 947 (50.2) Total 705 (100.0) 1,887 (100.0) * Risk alleles (T for Q126X, A for Q141K) are indicated in bold type at four locations, respectively. Login to comment 73 ABCG2 p.Gln141Lys ABCG2 p.Gln126* Genotyping of Q126X (rs72552713) and Q141K (rs2231142) in ABCG2 gene by high-resolution melting (HRM) analysis was performed with a LightCycler 480 (Roche Diagnostics)41 . Login to comment