ABCMdb

PMID: 16444273

Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N
A SNP in the ABCC11 gene is the determinant of human earwax type.
Nat Genet. 2006 Mar;38(3):324-30. Epub 2006 Jan 29., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC11 p.Gly180Arg We performed an association study of the 118 samples using 37 SNPs within the five-gene interval and found that rs17822931 (538G-A, G180R) in ABCC11 exon 4, rs6500380 (IVS12+7508A-G) in LONPL intron 12 and ss49784070 (IVS14+320A-G) within an Alu-repetitive sequence in LONPL intron 14 showed the lowest P values (o2.0 Â 10-14; Fig. 1). Login to comment 54 ABCC11 p.Gly180Arg Among the SNPs, only rs17822931 is nonsynonymous (G180R); rs6500380 does not create any splicing sites nor affect splicing factor binding motifs or known promoter sequences, and ss49784070 is located within the Alu-repetitive sequence, all supporting rs17822931 as an earwax determinant. Login to comment 88 ABCC11 p.Gly180Arg The G180R substitution in rs17822931 (538G-A) is located at the first transmembrane domain of MRP8. Login to comment