A SNP in the ABCC11 gene is the determinant of human earwax type

Koh Ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida, Aya Ninokata, Toshihisa Ishikawa, Tadashi Kaname, Makoto Bannai, Katsushi Tokunaga, Shunro Sonoda, Ryoichi Komaki, Makoto Ihara, Vladimir A. Saenko, Gabit K. Alipov, Ichiro Sekine, Kazuki Komatsu, Haruo Takahashi, Mitsuko Nakashima, Nadiya Sosonkina, Christophe K. Mapendano, Mohsen GhadamiMasayo Nomura, De Sheng Liang, Nobutomo Miwa, Dae Kwang Kim, Ariuntuul Garidkhuu, Nagato Natsume, Tohru Ohta, Hiroaki Tomita, Akira Kaneko, Mihoko Kikuchi, Graciela Russomando, Kenji Hirayama, Minaka Ishibashi, Aya Takahashi, Naruya Saitou, Jeffery C. Murray, Susumu Saito, Yusuke Nakamura, Norio Niikawa

Research output: Contribution to journalArticlepeer-review

170 Citations (Scopus)

Abstract

Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G → A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. The allele A frequency shows a north-south and east-west downward geographical gradient; worldwide, it is highest in Chinese and Koreans, and a common dry-type haplotype is retained among various ethnic populations. These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G → A SNP is the first example of DNA polymorphism determining a visible genetic trait.

Original languageEnglish
Pages (from-to)324-330
Number of pages7
JournalNature Genetics
Volume38
Issue number3
DOIs
Publication statusPublished - 2006 Mar
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Fingerprint

Dive into the research topics of 'A SNP in the ABCC11 gene is the determinant of human earwax type'. Together they form a unique fingerprint.

Cite this