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

Nat Genet. 2006 Mar;38(3):324-30. doi: 10.1038/ng1733.

Koh-ichiro Yoshiura ¹, 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 Ghadami, Masayo 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

Affiliations

Affiliation

1 Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kyoshi@net.nagasaki-u.ac.jp

PMID: 16444273 DOI: 10.1038/ng1733

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.

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