Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
. 2006 Mar;38(3):324-30.
doi: 10.1038/ng1733. Epub 2006 Jan 29.

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

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
Comparative Study

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

Koh-ichiro Yoshiura et al. Nat Genet. 2006 Mar.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

Substances

Associated data

LinkOut - more resources