2. Academic Validation
  3. A SNP in the ABCC11 gene is the determinant of human earwax type

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. [email protected]
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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